Human Genes Group 7 Flashcards
TRBV7-2
T cell receptor beta variable 7-2 A0A1B0GXF2 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
UPP1
Uridine phosphorylase 1 (UPase 1) (UrdPase 1) (EC 2.2.3) Q16831 FUNCTION: Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate . The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.
TRBV9
T cell receptor beta variable 9 A0A0B4J1U6 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TRBV12-3
T cell receptor beta variable 12-3 (T-cell receptor beta chain V region YT35) P01733 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TXLNB
Beta-taxilin (Muscle-derived protein 77) (hMDP77) Q8N3L3 FUNCTION: Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic.
YAF2
YY1-associated factor 2 Q8IY57 FUNCTION: Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates ‘Lys-9’ of histone H3, suggesting that it is involved in chromatin-remodeling.
UBR1
E3 ubiquitin-protein ligase UBR1 (EC 2.2.27) (N-recognin-1) (RING-type E3 ubiquitin transferase UBR1) (Ubiquitin-protein ligase E3-alpha-1) (Ubiquitin-protein ligase E3-alpha-I) Q8IWV7 FUNCTION: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.
ZBBX
Zinc finger B-box domain-containing protein 1 A8MT70
ZBED4
Zinc finger BED domain-containing protein 4 O75132 SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
ZBTB16
Zinc finger and BTB domain-containing protein 16 (Promyelocytic leukemia zinc finger protein) (Zinc finger protein 145) (Zinc finger protein PLZF) Q05516 FUNCTION: Acts as a transcriptional repressor . May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins .
UBXN10
UBX domain-containing protein 10 (UBX domain-containing protein 3) Q96LJ8 FUNCTION: VCP/p97-binding protein required for ciliogenesis . Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT-B) in cilia . UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 .
UCN2
Urocortin-2 (Stresscopin-related peptide) (Urocortin II) (Ucn II) (Urocortin-related peptide) Q96RP3 FUNCTION: Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress. SUBCELLULAR LOCATION: Secreted.
UCP1
Mitochondrial brown fat uncoupling protein 1 (UCP 1) (Solute carrier family 25 member 7) (Thermogenin) P25874 FUNCTION: Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane . However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity).
ZC3H14
Zinc finger CCCH domain-containing protein 14 (Mammalian suppressor of tau pathology-2) (MSUT-2) (Renal carcinoma antigen NY-REN-37) Q6PJT7 FUNCTION: Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides.
UGT1A6
UDP-glucuronosyltransferase 1-6 (UDPGT 1-6) (UGT1*6) (UGT1-06) (UGT1.6) (EC 2.1.17) (Phenol-metabolizing UDP-glucuronosyltransferase) (UDP-glucuronosyltransferase 1-F) (UGT-1F) (UGT1F) (UDP-glucuronosyltransferase 1A6) P19224 FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).
ZDBF2
DBF4-type zinc finger-containing protein 2 Q9HCK1
ZDHHC17
Palmitoyltransferase ZDHHC17 (EC 2.1.225) (Huntingtin yeast partner H) (Huntingtin-interacting protein 14) (HIP-14) (Huntingtin-interacting protein 3) (HIP-3) (Huntingtin-interacting protein H) (Putative MAPK-activating protein PM11) (Putative NF-kappa-B-activating protein 205) (Zinc finger DHHC domain-containing protein 17) (DHHC-17) Q8IUH5 FUNCTION: Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT (, , , ). May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane . May play a role in Mg(2+) transport .
UGT2B15
UDP-glucuronosyltransferase 2B15 (UDPGT 2B15) (EC 2.1.17) (HLUG4) (UDP-glucuronosyltransferase 2B8) (UDPGT 2B8) (UDPGTh-3) P54855 FUNCTION: UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. SUBCELLULAR LOCATION: Microsome membrane .
UFSP1
Inactive Ufm1-specific protease 1 (UfSP1) Q6NVU6
YME1L1
ATP-dependent zinc metalloprotease YME1L1 (EC 3.24.-) (ATP-dependent metalloprotease FtsH1) (Meg-4) (Presenilin-associated metalloprotease) (PAMP) (YME1-like protein 1) Q96TA2 FUNCTION: ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (, ). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (, , ). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins . Required for normal, constitutive degradation of PRELID1 . Catalyzes the degradation of OMA1 in response to membrane depolarization . Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) .
TTC3
E3 ubiquitin-protein ligase TTC3 (EC 2.2.27) (Protein DCRR1) (RING finger protein 105) (RING-type E3 ubiquitin transferase TTC3) (TPR repeat protein D) (Tetratricopeptide repeat protein 3) (TPR repeat protein 3) P53804 FUNCTION: E3 ubiquitin-protein ligase which catalyzes the formation of ‘Lys-48’-polyubiquitin chains (, ). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus . Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation . Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 . Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK (, ). Inhibits cell proliferation .
CCT6A
T-complex protein 1 subunit zeta (TCP-1-zeta) (Acute morphine dependence-related protein 2) (CCT-zeta-1) (HTR3) (Tcp20) P40227 FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis . The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance . The TRiC complex plays a role in the folding of actin and tubulin (Probable).
TIMELESS
Protein timeless homolog (hTIM) Q9UNS1 FUNCTION: Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication, DNA repair and in the regulation of the circadian clock (, , , , ). Required to stabilize replication forks during DNA replication by forming a complex with TIPIN: this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress (, ). TIMELESS promotes TIPIN nuclear localization (, ). Involved in cell survival after DNA damage or replication stress by promoting DNA repair (, , , ). In response to double-strand breaks (DSBs), accumulates at DNA damage sites and promotes homologous recombination repair via its interaction with PARP1 (, ). May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light . Involved in the determination of period length and in the DNA damage-dependent phase advancing of the circadian clock . Negatively regulates CLOCK|NPAS2-ARTNL/BMAL1|ARTNL2/BMAL2-induced transactivation of PER1 possibly via translocation of PER1 into the nucleus . May also play an important role in epithelial cell morphogenesis and formation of branching tubules (By similarity).
TCHHL1
Trichohyalin-like protein 1 (Basalin) (Protein S100-A17) (S100 calcium-binding protein A17) Q5QJ38
ZFP92
Zinc finger protein 92 homolog (Zfp-92) A6NM28 FUNCTION: May be involved in transcriptional regulation.
TTLL13P
Tubulin polyglutamylase TTLL13P (EC 6.-.-) (Tubulin tyrosine ligase-like family member 13 pseudogene) (Tubulin–tyrosine ligase-like protein 13) A6NNM8 FUNCTION: Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity).
WDSUB1
WD repeat, SAM and U-box domain-containing protein 1 Q8N9V3
TTLL8
Protein monoglycylase TTLL8 (EC 6.2.-) (Tubulin–tyrosine ligase-like protein 8) A6PVC2 FUNCTION: Monoglycylase which modifies both tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By similarity).
VASP
Vasodilator-stimulated phosphoprotein (VASP) P50552 FUNCTION: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin-bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation. Cell projection, lamellipodium membrane. Cell projection, filopodium membrane. Note=Targeted to stress fibers and focal adhesions through interaction with a number of proteins including MRL family members. Localizes to the plasma membrane in protruding lamellipodia and filopodial tips. Stimulation by thrombin or PMA, also translocates VASP to focal adhesions. Localized along the sides of actin filaments throughout the peripheral cytoplasm under basal conditions. In pre-apoptotic cells, colocalizes with MEFV in large specks (pyroptosomes).
XCR1
Chemokine XC receptor 1 (G-protein coupled receptor 5) (Lymphotactin receptor) (XC chemokine receptor 1) P46094 FUNCTION: Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level. Receptor for XCL1/Lymphotactin. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
VPS13A
Vacuolar protein sorting-associated protein 13A (Chorea-acanthocytosis protein) (Chorein) Q96RL7 FUNCTION: May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
HERVK_113
Endogenous retrovirus group K member 113 Pro protein (HERV-K113 envelope protein) (HERV-K_19p13.11 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P63121 FUNCTION: Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.
ATP6V1C1
V-type proton ATPase subunit C 1 (V-ATPase subunit C 1) (Vacuolar proton pump subunit C 1) P21283 FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
VAX1
Ventral anterior homeobox 1 Q5SQQ9 FUNCTION: Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity).
VWA5A
von Willebrand factor A domain-containing protein 5A (Breast cancer suppressor candidate 1) (BCSC-1) (Loss of heterozygosity 11 chromosomal region 2 gene A protein) O00534 FUNCTION: May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.
NSRP1
Nuclear speckle splicing regulatory protein 1 (Coiled-coil domain-containing protein 55) (Nuclear speckle-related protein 70) (NSrp70) Q9H0G5 FUNCTION: RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Note=Colocalizes with splicing factors SRSF1 and SRSF2 in speckles.
MTMR12
Myotubularin-related protein 12 (Inactive phosphatidylinositol 3-phosphatase 12) (Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit) (3-PAP) (3-phosphatase adapter protein) Q9C0I1 FUNCTION: Acts as an adapter for the myotubularin-related phosphatases (, , ). Regulates phosphatase MTM1 protein stability and possibly its intracellular location . By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).
NTAN1
Protein N-terminal asparagine amidohydrolase (EC 3.1.121) (Protein NH2-terminal asparagine amidohydrolase) (PNAA) (Protein NH2-terminal asparagine deamidase) (PNAD) (Protein N-terminal Asn amidase) (Protein N-terminal asparagine amidase) (Protein NTN-amidase) Q96AB6 FUNCTION: N-terminal asparagine deamidase that mediates deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by NTAN1/PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N-terminal peptidyl Asn.
MOG
Myelin-oligodendrocyte glycoprotein Q16653 FUNCTION: Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication.
MZT2A
Mitotic-spindle organizing protein 2A (Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A) Q6P582 SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle.
MTMR2
Myotubularin-related protein 2 (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.3.64) Q13614 FUNCTION: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (, , , ). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity).
N4BP2L1
NEDD4-binding protein 2-like 1 Q5TBK1
NUP62CL
Nucleoporin-62 C-terminal-like protein Q9H1M0
AGPAT4
1-acyl-sn-glycerol-3-phosphate acyltransferase delta (EC 2.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 4) (1-AGP acyltransferase 4) (1-AGPAT 4) (Lysophosphatidic acid acyltransferase delta) (LPAAT-delta) Q9NRZ5 FUNCTION: Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Exhibits high acyl-CoA specificity for polyunsaturated fatty acyl-CoA, especially docosahexaenoyl-CoA (22:6-CoA, DHA-CoA) (By similarity).
POTEE
POTE ankyrin domain family member E (ANKRD26-like family C member 1A) (Prostate, ovary, testis-expressed protein on chromosome 2) (POTE-2) Q6S8J3
NFYB
Nuclear transcription factor Y subunit beta (CAAT box DNA-binding protein subunit B) (Nuclear transcription factor Y subunit B) (NF-YB) P25208 FUNCTION: Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5’-CCAAT-3’ box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. SUBCELLULAR LOCATION: Nucleus.
PPP1R12C
Protein phosphatase 1 regulatory subunit 12C (Protein phosphatase 1 myosin-binding subunit of 85 kDa) (Protein phosphatase 1 myosin-binding subunit p85) Q9BZL4 FUNCTION: Regulates myosin phosphatase activity.
PLEKHD1
Pleckstrin homology domain-containing family D member 1 (PH domain-containing family D member 1) A6NEE1
MTNR1B
Melatonin receptor type 1B (Mel-1B-R) (Mel1b receptor) P49286 FUNCTION: High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
RPL23A
60S ribosomal protein L23a (Large ribosomal subunit protein uL23) P62750 FUNCTION: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds a specific region on the 26S rRNA. May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination .
RIMBP3
RIMS-binding protein 3A (RIM-BP3.A) (RIMS-binding protein 3.1) (RIM-BP3.1) Q9UFD9 FUNCTION: Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.
RIMKLB
Beta-citrylglutamate synthase B (EC 6.1.17) (N-acetyl-aspartylglutamate synthetase B) (NAAG synthetase B) (NAAGS) (EC 6.2.41) (Ribosomal protein S6 modification-like protein B) Q9ULI2 FUNCTION: Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate.
CD3EAP
DNA-directed RNA polymerase I subunit RPA34 (A34.5) (Antisense to ERCC-1 protein) (ASE-1) (CD3-epsilon-associated protein) (CAST) (CD3E-associated protein) (RNA polymerase I-associated factor PAF49) O15446 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.; FUNCTION: Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex. SUBCELLULAR LOCATION: Nucleus, nucleolus . Note=Found at the fibrillar centers of the nucleolus in interphase and during cell division it is localized to the nucleolus organizer regions of the chromosomes.
POLR1C
DNA-directed RNA polymerases I and III subunit RPAC1 (DNA-directed RNA polymerase I subunit C) (RNA polymerases I and III subunit AC1) (AC40) (DNA-directed RNA polymerases I and III 40 kDa polypeptide) (RPA40) (RPA39) (RPC40) O15160 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).
RPGR
X-linked retinitis pigmentosa GTPase regulator Q92834 FUNCTION: Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.; SUBCELLULAR LOCATION: [Isoform 6]: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.
MRPL19
39S ribosomal protein L19, mitochondrial (L19mt) (MRP-L19) (39S ribosomal protein L15, mitochondrial) (L15mt) (MRP-L15) (Mitochondrial large ribosomal subunit protein bL19m) P49406 SUBCELLULAR LOCATION: Mitochondrion .
RNF208
RING finger protein 208 Q9H0X6
RIPOR3
RIPOR family member 3 Q96MK2
RABGEF1
Rab5 GDP/GTP exchange factor (RAP1) (Rabaptin-5-associated exchange factor for Rab5) (Rabex-5) Q9UJ41 FUNCTION: Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity).
HERV-K104
Endogenous retrovirus group K member 104 Rec protein (HERV-K104 Rec protein) (HERV-K_5q13.3 provirus Rec protein) P61576 FUNCTION: Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3’LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).
RFWD3
E3 ubiquitin-protein ligase RFWD3 (EC 2.2.27) (RING finger and WD repeat domain-containing protein 3) (RING finger protein 201) Q6PCD5 FUNCTION: E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (, , , , ). Plays a key role in RPA-mediated DNA damage signaling and repair (, , , , , ). Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination (, , ). Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint . May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome . In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53 .
HRAS
GTPase HRas (H-Ras-1) (Ha-Ras) (Transforming protein p21) (c-H-ras) (p21ras) [Cleaved into: GTPase HRas, N-terminally processed] P01112 FUNCTION: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (, , ).; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Colocalizes with RACK1 to the perinuclear region.
RGS9
Regulator of G-protein signaling 9 (RGS9) O75916 FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).
RSL1D1
Ribosomal L1 domain-containing protein 1 (CATX-11) (Cellular senescence-inhibited gene protein) (Protein PBK1) O76021 FUNCTION: Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage.
C9orf64
Queuosine salvage protein Q5T6V5 FUNCTION: Involved in salvaging queuosine.
PTBP1
Polypyrimidine tract-binding protein 1 (PTB) (57 kDa RNA-binding protein PPTB-1) (Heterogeneous nuclear ribonucleoprotein I) (hnRNP I) P26599 FUNCTION: Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 . In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation . SUBCELLULAR LOCATION: Nucleus.
SAT1
Diamine acetyltransferase 1 (EC 2.1.57) (Polyamine N-acetyltransferase 1) (Putrescine acetyltransferase) (Spermidine/spermine N(1)-acetyltransferase 1) (SSAT) (SSAT-1) P21673 FUNCTION: Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine»_space; spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine. SUBCELLULAR LOCATION: Cytoplasm.
TAF13
Transcription initiation factor TFIID subunit 13 (Transcription initiation factor TFIID 18 kDa subunit) (TAF(II)18) (TAFII-18) (TAFII18) Q15543 FUNCTION: Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells.
SELENBP1
Methanethiol oxidase (MTO) (EC 1.3.4) (56 kDa selenium-binding protein) (SBP56) (SP56) (Selenium-binding protein 1) Q13228 FUNCTION: Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria . Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity).
TPI1
Triosephosphate isomerase (TIM) (EC 5.1.1) (Methylglyoxal synthase) (EC 4.3.3) (Triose-phosphate isomerase) P60174 FUNCTION: Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis.
SULT1A1
Sulfotransferase 1A1 (ST1A1) (EC 2.2.1) (Aryl sulfotransferase 1) (HAST1/HAST2) (Phenol sulfotransferase 1) (Phenol-sulfating phenol sulfotransferase 1) (P-PST 1) (ST1A3) (Thermostable phenol sulfotransferase) (Ts-PST) P50225 FUNCTION: Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk. SUBCELLULAR LOCATION: Cytoplasm.
SLC5A12
Sodium-coupled monocarboxylate transporter 2 (Electroneutral sodium monocarboxylate cotransporter) (Low-affinity sodium-lactate cotransporter) (Solute carrier family 5 member 12) Q1EHB4 FUNCTION: Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity).
SLC22A7
Solute carrier family 22 member 7 (Novel liver transporter) (Organic anion transporter 2) (hOAT2) Q9Y694 FUNCTION: Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha-ketoglutarate. Note=Apical side of the renal tubule.
SLC12A9
Solute carrier family 12 member 9 (Cation-chloride cotransporter 6) (hCCC6) (Cation-chloride cotransporter-interacting protein 1) (CCC-interacting protein 1) (hCIP1) (Potassium-chloride transporter 9) (WO3.3) Q9BXP2 FUNCTION: May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function.
SMARCA5
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5) (EC 3.4.-) (Sucrose nonfermenting protein 2 homolog) (hSNF2H) O60264 FUNCTION: Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at ‘Tyr-142’, and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.
SLC22A17
Solute carrier family 22 member 17 (24p3 receptor) (24p3R) (Brain-type organic cation transporter) (Lipocalin-2 receptor) (Neutrophil gelatinase-associated lipocalin receptor) (NgalR) Q8WUG5 FUNCTION: Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity). Note=Upon LCN2-binding, it is internalized.
SLC6A6
Sodium- and chloride-dependent taurine transporter (Solute carrier family 6 member 6) P31641 FUNCTION: Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
SCARA5
Scavenger receptor class A member 5 (Scavenger receptor hlg) Q6ZMJ2 FUNCTION: Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Binds preferrentially ferritin light chain (FTL) compared to heavy chain (FTH1).
SLC25A48
Solute carrier family 25 member 48 Q6ZT89 SUBCELLULAR LOCATION: Mitochondrion inner membrane .
TAP1
Antigen peptide transporter 1 (APT1) (ATP-binding cassette sub-family B member 2) (Peptide supply factor 1) (Peptide transporter PSF1) (PSF-1) (Peptide transporter TAP1) (Peptide transporter involved in antigen processing 1) (Really interesting new gene 4 protein) Q03518 FUNCTION: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane.
TMEM223
Transmembrane protein 223 A0PJW6 SUBCELLULAR LOCATION: Membrane .
TMEM230
Transmembrane protein 230 Q96A57 FUNCTION: Involved in trafficking and recycling of synaptic vesicles.
SCYGR5
Small cysteine and glycine repeat-containing protein 5 (Keratin-associated protein 28-5) A0A286YF46 FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
ST6GAL1
Beta-galactoside alpha-2,6-sialyltransferase 1 (Alpha 2,6-ST 1) (EC 2.99.1) (B-cell antigen CD75) (CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1) (ST6Gal I) (ST6GalI) (Sialyltransferase 1) P15907 FUNCTION: Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.
TMEM240
Transmembrane protein 240 Q5SV17 SUBCELLULAR LOCATION: Cell junction, synapse .
TMEM242
Transmembrane protein 242 Q9NWH2 SUBCELLULAR LOCATION: Membrane .
TRPV1
Transient receptor potential cation channel subfamily V member 1 (TrpV1) (Capsaicin receptor) (Osm-9-like TRP channel 1) (OTRPC1) (Vanilloid receptor 1) Q8NER1 FUNCTION: Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibits a time- and Ca(2+)-dependent outward rectification, followed by a long-lasting refractory state. Mild extracellular acidic pH (6.5) potentiates channel activation by noxious heat and vanilloids, whereas acidic conditions (pH <6) directly activate the channel. Can be activated by endogenous compounds, including 12-hydroperoxytetraenoic acid and bradykinin. Acts as ionotropic endocannabinoid receptor with central neuromodulatory effects. Triggers a form of long-term depression (TRPV1-LTD) mediated by the endocannabinoid anandamine in the hippocampus and nucleus accumbens by affecting AMPA receptors endocytosis.
TXN2
Thioredoxin, mitochondrial (MTRX) (Mt-Trx) (Thioredoxin-2) Q99757 FUNCTION: Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.
TXN
Thioredoxin (Trx) (ATL-derived factor) (ADF) (Surface-associated sulphydryl protein) (SASP) P10599 FUNCTION: Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions. Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity. Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates AP-1 transcriptional activity.; FUNCTION: ADF augments the expression of the interleukin-2 receptor TAC (IL2R/P55). SUBCELLULAR LOCATION: Nucleus .
STOML2
Stomatin-like protein 2, mitochondrial (SLP-2) (EPB72-like protein 2) (Paraprotein target 7) (Paratarg-7) Q9UJZ1 FUNCTION: Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation.
USP17L2
Ubiquitin carboxyl-terminal hydrolase 17 (USP17) (EC 3.19.12) (Deubiquitinating enzyme 17-like protein 2) (Deubiquitinating protein 3) (DUB-3) (Ubiquitin carboxyl-terminal hydrolase 17-like protein 2) (Ubiquitin thioesterase 17-like protein 2) (Ubiquitin-specific-processing protease 17-like protein 2) Q6R6M4 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetylation. Through activation of the Rho family GTPases RAC1A, CDC42 and RHOA, regulates cell migration. Through the cleavage of ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin chains of the cytoplasmic innate immune receptors DDX58 and IFIH1 stimulates the cellular response to viral infection.
USP17L4
Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4 A6NCW7 SUBCELLULAR LOCATION: Nucleus .
USP17L6P
Ubiquitin carboxyl-terminal hydrolase 17-like protein 6 (EC 3.19.12) (Deubiquitinating enzyme 17-like protein 6) (Ubiquitin thioesterase 17-like protein 6) (Ubiquitin-specific-processing protease 17-like protein 6) Q6QN14 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, cell migration, and the cellular response to viral infection. Seems to be non-functional in the regulation of apoptosis.
USP17L8
Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8 P0C7I0 SUBCELLULAR LOCATION: Nucleus .
USP17L13
Ubiquitin carboxyl-terminal hydrolase 17-like protein 13 (EC 3.19.12) C9JLJ4 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
USP17L15
Ubiquitin carboxyl-terminal hydrolase 17-like protein 15 (EC 3.19.12) C9J2P7 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
USP17L21
Ubiquitin carboxyl-terminal hydrolase 17-like protein 21 (EC 3.19.12) D6R901 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
XIAP
E3 ubiquitin-protein ligase XIAP (EC 2.2.27) (Baculoviral IAP repeat-containing protein 4) (IAP-like protein) (ILP) (hILP) (Inhibitor of apoptosis protein 3) (IAP-3) (hIAP-3) (hIAP3) (RING-type E3 ubiquitin transferase XIAP) (X-linked inhibitor of apoptosis protein) (X-linked IAP) P98170 FUNCTION: Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis. Acts as a direct caspase inhibitor. Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry. Inactivates CASP9 by keeping it in a monomeric, inactive state. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, CASP3, CASP7, CASP8, CASP9, MAP3K2/MEKK2, DIABLO/SMAC, AIFM1, CCS and BIRC5/survivin. Ubiquitinion of CCS leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation. Ubiquitinion of MAP3K2/MEKK2 and AIFM1 does not lead to proteasomal degradation. Plays a role in copper homeostasis by ubiquitinationg COMMD1 and promoting its proteasomal degradation. Can also function as E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Regulates the BMP signaling pathway and the SMAD and MAP3K7/TAK1 dependent pathways leading to NF-kappa-B and JNK activation. Acts as an important regulator of innate immune signaling via regulation of Nodlike receptors (NLRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Acts as a positive regulator of Wnt signaling and ubiquitinates TLE1, TLE2, TLE3, TLE4 and AES. Ubiquitination of TLE3 results in inhibition of its interaction with TCF7L2/TCF4 thereby allowing efficient recruitment and binding of the transcriptional coactivator beta-catenin to TCF7L2/TCF4 that is required to initiate a Wnt-specific transcriptional program. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=TLE3 promotes its nuclear localization.
TBC1D10A
TBC1 domain family member 10A (EBP50-PDX interactor of 64 kDa) (EPI64 protein) (Rab27A-GAP-alpha) Q9BXI6 FUNCTION: Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A. Note=Localizes to the microvilli-rich region of the syncytiotrophoblast. In melanocytes, located at the periphery of cells.
STOM
Erythrocyte band 7 integral membrane protein (Protein 7.2b) (Stomatin) P27105 FUNCTION: Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity. SUBCELLULAR LOCATION: Cell membrane .
TBC1D10B
TBC1 domain family member 10B (Rab27A-GAP-beta) Q4KMP7 FUNCTION: Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A. Note=In melanocytes, located at the periphery of cells.
TNKS1BP1
182 kDa tankyrase-1-binding protein Q9C0C2 SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton. Chromosome. Note=Colocalizes with chromosomes during mitosis, and in the cytoplasm with cortical actin.
TMSB15B
Thymosin beta-15B P0CG35 FUNCTION: Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). May be involved in cell migration.
SZRD1
SUZ domain-containing protein 1 (Putative MAPK-activating protein PM18/PM20/PM22) Q7Z422
SZT2
KICSTOR complex protein SZT2 (Seizure threshold 2 protein homolog) Q5T011 FUNCTION: As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (, ). May play a role in the cellular response to oxidative stress (By similarity).
TBC1D22A
TBC1 domain family member 22A Q8WUA7 FUNCTION: May act as a GTPase-activating protein for Rab family protein(s).
MRPS14
28S ribosomal protein S14, mitochondrial (MRP-S14) (S14mt) (Mitochondrial small ribosomal subunit protein uS14m) O60783 SUBCELLULAR LOCATION: Mitochondrion .
TMEM106B
Transmembrane protein 106B Q9NUM4 FUNCTION: Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.
TUBA1A
Tubulin alpha-1A chain (Alpha-tubulin 3) (Tubulin B-alpha-1) (Tubulin alpha-3 chain) [Cleaved into: Detyrosinated tubulin alpha-1A chain] Q71U36 FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TREML2
Trem-like transcript 2 protein (TLT-2) (Triggering receptor expressed on myeloid cells-like protein 2) Q5T2D2 FUNCTION: Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation.
TMEM106C
Transmembrane protein 106C (Endoplasmic reticulum membrane protein overexpressed in cancer) Q9BVX2 SUBCELLULAR LOCATION: Endoplasmic reticulum membrane .
TIMM10B
Mitochondrial import inner membrane translocase subunit Tim10 B (Fracture callus protein 1) (FxC1) (Mitochondrial import inner membrane translocase subunit Tim9 B) (TIMM10B) (Tim10b) Q9Y5J6 FUNCTION: Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space.
TNP2
Nuclear transition protein 2 (TP-2) (TP2) Q05952 FUNCTION: Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.
THOC1
THO complex subunit 1 (Tho1) (Nuclear matrix protein p84) (p84N5) (hTREX84) Q96FV9 FUNCTION: Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Regulates transcriptional elongation of a subset of genes. Involved in genome stability by preventing co-transcriptional R-loop formation.; FUNCTION: Participates in an apoptotic pathway which is characterized by activation of caspase-6, increases in the expression of BAK1 and BCL2L1 and activation of NF-kappa-B. This pathway does not require p53/TP53, nor does the presence of p53/TP53 affect the efficiency of cell killing. Activates a G2/M cell cycle checkpoint prior to the onset of apoptosis. Apoptosis is inhibited by association with RB1. SUBCELLULAR LOCATION: [Isoform 1]: Nucleus speckle. Nucleus, nucleoplasm. Nucleus matrix. Cytoplasm. Note=Can shuttle between the nucleus and cytoplasm. Nuclear localization is required for induction of apoptotic cell death. Translocates to the cytoplasm during the early phase of apoptosis execution.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.
TCP11X1
T-complex protein 11 X-linked protein 1 B4DZS4
MRPS18C
28S ribosomal protein S18c, mitochondrial (MRP-S18-c) (Mrps18-c) (S18mt-c) (28S ribosomal protein S18-1, mitochondrial) (MRP-S18-1) (Mitochondrial small ribosomal subunit protein bS18c) (Mitochondrial small ribosomal subunit protein bS18m) Q9Y3D5 SUBCELLULAR LOCATION: Mitochondrion .
TMEM120B
Transmembrane protein 120B A0PK00 FUNCTION: Necessary for efficient adipogenesis.
XKR6
XK-related protein 6 Q5GH73 SUBCELLULAR LOCATION: Membrane .
THOC3
THO complex subunit 3 (Tho3) (TEX1 homolog) (hTREX45) Q96J01 FUNCTION: Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.
TMEM126A
Transmembrane protein 126A Q9H061 SUBCELLULAR LOCATION: Mitochondrion inner membrane .
U2AF1L5
Splicing factor U2AF 35 kDa subunit-like protein (U2 small nuclear RNA auxiliary factor 1-like protein 5) P0DN76 FUNCTION: Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3’-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.
TFDP3
Transcription factor Dp family member 3 (Cancer/testis antigen 30) (CT30) (Hepatocellular carcinoma-associated antigen 661) Q5H9I0 FUNCTION: Competitive inhibitor of E2F-mediated transactivation activity. Impairs E2F-mediated cell-cycle progression from G(1) to S phase. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Translocates to the nucleus on heterodimerization with E2F family members.
TMEM131L
Transmembrane protein 131-like A2VDJ0 FUNCTION: [Isoform 1]: Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation.
MRPS23
28S ribosomal protein S23, mitochondrial (MRP-S23) (S23mt) (Mitochondrial small ribosomal subunit protein mS23) Q9Y3D9 SUBCELLULAR LOCATION: Mitochondrion .
UBE2DNL
Putative ubiquitin-conjugating enzyme E2 D2-like protein (Ubiquitin carrier protein D2-like) (Ubiquitin-conjugating enzyme E2D N-terminal-like) (Ubiquitin-protein ligase D2-like) Q8IWF7
STPG2
Sperm-tail PG-rich repeat-containing protein 2 Q8N412
UBE2Q2L
Putative ubiquitin-conjugating enzyme E2Q2-like protein H0YL09
TUBA3C
Tubulin alpha-3C chain (Alpha-tubulin 2) (Alpha-tubulin 3C) (Tubulin alpha-2 chain) [Cleaved into: Detyrosinated tubulin alpha-3C chain] P0DPH7 FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
XK
Membrane transport protein XK (Kell complex 37 kDa component) (Kx antigen) (XK-related protein 1) P51811 FUNCTION: May be involved in sodium-dependent transport of neutral amino acids or oligopeptides. SUBCELLULAR LOCATION: Membrane .
TMEM132E
Transmembrane protein 132E Q6IEE7 FUNCTION: Required for normal inner ear hair cell function and hearing.
TUBA3E
Tubulin alpha-3E chain (Alpha-tubulin 3E) [Cleaved into: Detyrosinated tubulin alpha-3E chain] Q6PEY2 FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).
MRPS24
28S ribosomal protein S24, mitochondrial (MRP-S24) (S24mt) (Mitochondrial small ribosomal subunit protein uS3m) (bMRP-47) (bMRP47) Q96EL2 SUBCELLULAR LOCATION: Mitochondrion .
TFEC
Transcription factor EC (TFE-C) (Class E basic helix-loop-helix protein 34) (bHLHe34) (Transcription factor EC-like) (hTFEC-L) O14948 FUNCTION: Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form.
TMEM150A
Transmembrane protein 150A (Transmembrane protein 150) Q86TG1 FUNCTION: Regulates localization of phosphatidylinositol 4-kinase (PI4K) to the plasma membrane, possibly by reducing the association of TTC7 (TTC7A or TTC7B) with the PI4K complex . Acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis . May also play a role in fasting-induced catabolism (By similarity).
THOP1
Thimet oligopeptidase (EC 3.24.15) (Endopeptidase 24.15) (MP78) P52888 FUNCTION: Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments. SUBCELLULAR LOCATION: Cytoplasm.
TMEM150C
Transmembrane protein 150C B9EJG8 FUNCTION: Component of a mechanosensitive cation channel. Confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception.
MRPS25
28S ribosomal protein S25, mitochondrial (MRP-S25) (S25mt) (Mitochondrial small ribosomal subunit protein mS25) P82663 SUBCELLULAR LOCATION: Mitochondrion .
ERCC4
DNA repair endonuclease XPF (EC 3.-.-) (DNA excision repair protein ERCC-4) (DNA repair protein complementing XP-F cells) (Xeroderma pigmentosum group F-complementing protein) Q92889 FUNCTION: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.
DAP3
28S ribosomal protein S29, mitochondrial (MRP-S29) (S29mt) (Death-associated protein 3) (DAP-3) (Ionizing radiation resistance conferring protein) (Mitochondrial small ribosomal subunit protein mS29) P51398 FUNCTION: Involved in mediating interferon-gamma-induced cell death. SUBCELLULAR LOCATION: Mitochondrion .
MRPS28
28S ribosomal protein S28, mitochondrial (MRP-S28) (S28mt) (28S ribosomal protein S35, mitochondrial) (MRP-S35) (S35mt) (Mitochondrial small ribosomal subunit protein bS1m) Q9Y2Q9 SUBCELLULAR LOCATION: Mitochondrion .
TMEM176B
Transmembrane protein 176B (Protein LR8) Q3YBM2 FUNCTION: May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity).
THSD4
Thrombospondin type-1 domain-containing protein 4 (A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6) (ADAMTS-like protein 6) (ADAMTSL-6) Q6ZMP0 FUNCTION: Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity).
TBATA
Protein TBATA (Protein SPATIAL) (Stromal protein associated with thymii and lymph node homolog) (Thymus, brain and testes-associated protein) Q96M53 FUNCTION: May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function.
TMEM225B
Transmembrane protein 225B P0DP42 SUBCELLULAR LOCATION: Membrane .
STRIP2
Striatin-interacting protein 2 (Protein FAM40B) Q9ULQ0 FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Note=Enriched in lamellipodia.
MFAP5
Microfibrillar-associated protein 5 (MFAP-5) (MP25) (Microfibril-associated glycoprotein 2) (MAGP-2) Q13361 FUNCTION: May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils . SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
ITSN1
Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17) Q15811 FUNCTION: Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (, ). Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex . Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits . Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2 . Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 .
MAVS
Mitochondrial antiviral-signaling protein (MAVS) (CARD adapter inducing interferon beta) (Cardif) (Interferon beta promoter stimulator protein 1) (IPS-1) (Putative NF-kappa-B-activating protein 031N) (Virus-induced-signaling adapter) (VISA) Q7Z434 FUNCTION: Required for innate immune defense against viruses (, , , , , , ). Acts downstream of DHX33, DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5) (, , , , , , , ). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state . Upon viral infection, peroxisomal MAVS induces the rapid interferon-independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon-dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response . May activate the same pathways following detection of extracellular dsRNA by TLR3 . May protect cells from apoptosis .
MBD1
Methyl-CpG-binding domain protein 1 (CXXC-type zinc finger protein 3) (Methyl-CpG-binding protein MBD1) (Protein containing methyl-CpG-binding domain 1) Q9UIS9 FUNCTION: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone ‘Lys-9’ trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters.
IDI2
Isopentenyl-diphosphate delta-isomerase 2 (EC 5.3.2) (Isopentenyl pyrophosphate isomerase 2) (IPP isomerase 2) (IPPI2) Q9BXS1 FUNCTION: Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).
HDAC8
Histone deacetylase 8 (HD8) (EC 3.1.98) Q9BY41 FUNCTION: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing smooth muscle differentiation.
IFT172
Intraflagellar transport protein 172 homolog Q9UG01 FUNCTION: Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Note=Localized to the axoneme and around the base of the cilium.
KIAA1143
Uncharacterized protein KIAA1143 Q96AT1
IGFN1
Immunoglobulin-like and fibronectin type III domain-containing protein 1 (EEF1A2-binding protein 1) (KY-interacting protein 1) Q86VF2 SUBCELLULAR LOCATION: Nucleus .
MDH1
Malate dehydrogenase, cytoplasmic (EC 1.1.37) (Cytosolic malate dehydrogenase) (Diiodophenylpyruvate reductase) (EC 1.1.96) P40925 SUBCELLULAR LOCATION: Cytoplasm.
IL2RB
Interleukin-2 receptor subunit beta (IL-2 receptor subunit beta) (IL-2R subunit beta) (IL-2RB) (High affinity IL-2 receptor subunit beta) (Interleukin-15 receptor subunit beta) (p70-75) (p75) (CD antigen CD122) P14784 FUNCTION: Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 .
KRTAP2-3
Keratin-associated protein 2-3 (High sulfur keratin-associated protein 2.4) (Keratin-associated protein 2.3) P0C7H8 FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).
PNLIPRP1
Inactive pancreatic lipase-related protein 1 (PL-RP1) P54315 FUNCTION: May function as inhibitor of dietary triglyceride digestion. Lacks detectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (in vitro) (By similarity).
IGKV2-30
Immunoglobulin kappa variable 2-30 (Ig kappa chain V-II region RPMI 6410) P06310 FUNCTION: V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition . Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (, ). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (, ).
MACC1
Metastasis-associated in colon cancer protein 1 (SH3 domain-containing protein 7a5) Q6ZN28 FUNCTION: Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo. Note=Mainly found in the cytoplasm in non-metastasizing tumors.
HPDL
4-hydroxyphenylpyruvate dioxygenase-like protein (EC 1.13.-) (Glyoxalase domain-containing protein 1) Q96IR7 FUNCTION: May have dioxygenase activity.
HS6ST3
Heparan-sulfate 6-O-sulfotransferase 3 (HS6ST-3) (EC 2.2.-) Q8IZP7 FUNCTION: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3’-phosphoadenosine 5’-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. SUBCELLULAR LOCATION: Membrane .
MAGEA2; MAGEA2B
Melanoma-associated antigen 2 (Cancer/testis antigen 1.2) (CT1.2) (MAGE-2 antigen) P43356 FUNCTION: Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. Negatively regulates acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and activation. SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body.
ISL2
Insulin gene enhancer protein ISL-2 (Islet-2) Q96A47 FUNCTION: Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.
MAGEB3
Melanoma-associated antigen B3 (MAGE-B3 antigen) O15480
KIR2DL2
Killer cell immunoglobulin-like receptor 2DL2 (CD158 antigen-like family member B1) (MHC class I NK cell receptor) (Natural killer-associated transcript 6) (NKAT-6) (p58 natural killer cell receptor clone CL-43) (p58 NK receptor CL-43) (CD antigen CD158b1) P43627 FUNCTION: Receptor on natural killer (NK) cells for HLA-Cw1, 3, 7, and 8 allotypes. Inhibits the activity of NK cells thus preventing cell lysis. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
KIR2DL3
Killer cell immunoglobulin-like receptor 2DL3 (CD158 antigen-like family member B2) (KIR-023GB) (Killer inhibitory receptor cl 2-3) (MHC class I NK cell receptor) (NKAT2a) (NKAT2b) (Natural killer-associated transcript 2) (NKAT-2) (p58 natural killer cell receptor clone CL-6) (p58 NK receptor CL-6) (p58.2 MHC class-I-specific NK receptor) (CD antigen CD158b2) P43628 FUNCTION: Receptor on natural killer (NK) cells for HLA-C alleles (HLA-Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
LAMA1
Laminin subunit alpha-1 (Laminin A chain) (Laminin-1 subunit alpha) (Laminin-3 subunit alpha) (S-laminin subunit alpha) (S-LAM alpha) P25391 FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
MAPK13
Mitogen-activated protein kinase 13 (MAP kinase 13) (MAPK 13) (EC 2.11.24) (Mitogen-activated protein kinase p38 delta) (MAP kinase p38 delta) (Stress-activated protein kinase 4) O15264 FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studied p38 MAPK isoforms. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K. Involved in cytoskeletal remodeling through phosphorylation of MAPT and STMN1. Mediates UV irradiation induced up-regulation of the gene expression of CXCL14. Plays an important role in the regulation of epidermal keratinocyte differentiation, apoptosis and skin tumor development. Phosphorylates the transcriptional activator MYB in response to stress which leads to rapid MYB degradation via a proteasome-dependent pathway. MAPK13 also phosphorylates and down-regulates PRKD1 during regulation of insulin secretion in pancreatic beta cells.
LHCGR
Lutropin-choriogonadotropic hormone receptor (LH/CG-R) (Luteinizing hormone receptor) (LHR) (LSH-R) P22888 FUNCTION: Receptor for lutropin-choriogonadotropic hormone . The activity of this receptor is mediated by G proteins which activate adenylate cyclase .
LSR
Lipolysis-stimulated lipoprotein receptor Q86X29 FUNCTION: Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity).
LGALS9C
Galectin-9C (Gal-9C) (Galectin-9-like protein B) Q6DKI2 FUNCTION: Binds galactosides.
LTK
Leukocyte tyrosine kinase receptor (EC 2.10.1) (Protein tyrosine kinase 1) P29376 FUNCTION: Receptor with a tyrosine-protein kinase activity. The exact function of this protein is not known. Studies with chimeric proteins (replacing its extracellular region with that of several known growth factor receptors, such as EGFR and CSFIR) demonstrate its ability to promote growth and specifically neurite outgrowth, and cell survival. Signaling appears to involve the PI3 kinase pathway. Involved in regulation of the secretory pathway involving endoplasmic reticulum (ER) export sites (ERESs) and ER to Golgi transport. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
IQCN
IQ domain-containing protein N Q9H0B3
IGLV3-19
Immunoglobulin lambda variable 3-19 (Ig lambda chain V-III region SH) P01714 FUNCTION: V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition . Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (, ). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (, ).
LY75
Lymphocyte antigen 75 (Ly-75) (C-type lectin domain family 13 member B) (DEC-205) (gp200-MR6) (CD antigen CD205) O60449 FUNCTION: Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment (By similarity). Causes reduced proliferation of B-lymphocytes.
PGAM4
Probable phosphoglycerate mutase 4 (EC 5.2.11) (EC 5.2.4) Q8N0Y7
OTUB1
Ubiquitin thioesterase OTUB1 (EC 3.19.12) (Deubiquitinating enzyme OTUB1) (OTU domain-containing ubiquitin aldehyde-binding protein 1) (Otubain-1) (hOTU1) (Ubiquitin-specific-processing protease OTUB1) Q96FW1 FUNCTION: Hydrolase that can specifically remove ‘Lys-48’-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy. Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of ‘Lys-48’-linked polyubiquitin chains, but not ‘Lys-63’-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to ‘Lys-48’-linked ubiquitin.; FUNCTION: Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of ‘Lys-63’-linked histone H2A and H2AX at DNA damage sites. Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2 partner of RNF168, thereby limiting spreading of ‘Lys-63’-linked histone H2A and H2AX marks. Inhibition occurs by binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13 and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that mimics a cleaved ‘Lys48’-linked di-ubiquitin chain. SUBCELLULAR LOCATION: Cytoplasm .
PGAM2
Phosphoglycerate mutase 2 (EC 5.2.11) (EC 5.2.4) (BPG-dependent PGAM 2) (Muscle-specific phosphoglycerate mutase) (Phosphoglycerate mutase isozyme M) (PGAM-M) P15259 FUNCTION: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.2.4 (synthase), but with a reduced activity.
PDK3
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (EC 2.11.2) (Pyruvate dehydrogenase kinase isoform 3) Q15120 FUNCTION: Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species. SUBCELLULAR LOCATION: Mitochondrion matrix.
OTULIN
Ubiquitin thioesterase otulin (EC 3.19.12) (Deubiquitinating enzyme otulin) (OTU domain-containing deubiquitinase with linear linkage specificity) (Ubiquitin thioesterase Gumby) Q96BN8 FUNCTION: Deubiquitinase that specifically removes linear (‘Met-1’-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (, , , , , , , , , ). Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex . Acts as a negative regulator of NF-kappa-B by regulating the activity of the LUBAC complex (, ). OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing ‘Met-1’-linked autoubiquitination of the LUBAC complex, thereby preventing inactivation of the LUBAC complex . Acts as a key negative regulator of inflammation by restricting spontaneous inflammation and maintaining immune homeostasis . In myeloid cell, required to prevent unwarranted secretion of cytokines leading to inflammation and autoimmunity by restricting linear polyubiquitin formation . Plays a role in innate immune response by restricting linear polyubiquitin formation on LUBAC complex in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling .
PDP2
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial (PDP 2) (EC 3.3.43) (Pyruvate dehydrogenase phosphatase catalytic subunit 2) (PDPC 2) Q9P2J9 FUNCTION: Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.
PAX9
Paired box protein Pax-9 P55771 FUNCTION: Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. SUBCELLULAR LOCATION: Nucleus.
OXA1L
Mitochondrial inner membrane protein OXA1L (Hsa) (OXA1Hs) (Oxidase assembly 1-like protein) (OXA1-like protein) Q15070 FUNCTION: Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria.
DAO
D-amino-acid oxidase (DAAO) (DAMOX) (DAO) (EC 1.3.3) P14920 FUNCTION: Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D-amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids. SUBCELLULAR LOCATION: Peroxisome.
OXR1
Oxidation resistance protein 1 Q8N573 FUNCTION: May be involved in protection from oxidative damage.
NHSL2
NHS-like protein 2 Q5HYW2
PRPF39
Pre-mRNA-processing factor 39 (PRP39 homolog) Q86UA1 FUNCTION: Involved in pre-mRNA splicing.
PRR15
Proline-rich protein 15 Q8IV56 FUNCTION: May have a role in proliferation and/or differentiation.
P2RX1
P2X purinoceptor 1 (P2X1) (ATP receptor) (Purinergic receptor) P51575 FUNCTION: Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
PRR26
Proline-rich protein 26 Q8N8Z3
PRR29
Proline-rich protein 29 P0C7W0
PRRX1
Paired mesoderm homeobox protein 1 (Homeobox protein PHOX1) (Paired-related homeobox protein 1) (PRX-1) P54821 FUNCTION: Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). SUBCELLULAR LOCATION: Nucleus.
PCDHA9
Protocadherin alpha-9 (PCDH-alpha-9) Q9Y5H5 FUNCTION: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. SUBCELLULAR LOCATION: Cell membrane .
PRSS56
Serine protease 56 (EC 3.21.-) P0CW18 FUNCTION: Serine protease required during eye development.
PRSS38
Serine protease 38 (EC 3.21.-) (Marapsin-2) A1L453 SUBCELLULAR LOCATION: Secreted .
KLRC4
NKG2-F type II integral membrane protein (NK cell receptor F) (NKG2-F-activating NK receptor) O43908 FUNCTION: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells. SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
PROSER1
Proline and serine-rich protein 1 Q86XN7
NKX2-6
Homeobox protein Nkx-2.6 (Homeobox protein NK-2 homolog F) A6NCS4 FUNCTION: Acts as a transcriptional activator . In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.
NKTR
NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.1.8) (Rotamase) P30414 FUNCTION: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding . Component of a putative tumor-recognition complex involved in the function of NK cells .
PRSS8
Prostasin (EC 3.21.-) (Channel-activating protease 1) (CAP1) (Serine protease 8) [Cleaved into: Prostasin light chain; Prostasin heavy chain] Q16651 FUNCTION: Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). SUBCELLULAR LOCATION: [Prostasin]: Cell membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: [Prostasin light chain]: Secreted, extracellular space. Note=Found in the seminal fluid. Secreted after cleavage of its C-terminus.; SUBCELLULAR LOCATION: [Prostasin heavy chain]: Secreted, extracellular space. Note=Found in the seminal fluid. Secreted after cleavage of its C-terminus.
PCOLCE2
Procollagen C-endopeptidase enhancer 2 (Procollagen COOH-terminal proteinase enhancer 2) (PCPE-2) (Procollagen C-proteinase enhancer 2) Q9UKZ9 FUNCTION: Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1.
OOSP1
Putative oocyte-secreted protein 1 homolog A8MZH6 FUNCTION: May be involved in cell differentiation.
ZCCHC17
Nucleolar protein of 40 kDa (pNO40) (Pnn-interacting nucleolar protein) (Putative S1 RNA-binding domain protein) (PS1D protein) (Zinc finger CCHC domain-containing protein 17) Q9NP64 SUBCELLULAR LOCATION: Nucleus, nucleolus .
PPY2P
Putative pancreatic polypeptide 2 Q9NRI7
MROH5
Maestro heat-like repeat family member 5 Q6ZUA9
ABCC5
Multidrug resistance-associated protein 5 (ATP-binding cassette sub-family C member 5) (Multi-specific organic anion transporter C) (MOAT-C) (SMRP) (pABC11) O15440 FUNCTION: Acts as a multispecific organic anion pump which can transport nucleotide analogs. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
NME5
Nucleoside diphosphate kinase homolog 5 (NDK-H 5) (NDP kinase homolog 5) (Inhibitor of p53-induced apoptosis-beta) (IPIA-beta) (Testis-specific nm23 homolog) (nm23-H5) P56597 FUNCTION: Does not seem to have NDK kinase activity. Confers protection from cell death by Bax and alters the cellular levels of several antioxidant enzymes including Gpx5. May play a role in spermiogenesis by increasing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity).
PLAC9
Placenta-specific protein 9 Q5JTB6 SUBCELLULAR LOCATION: Secreted .
MRM1
rRNA methyltransferase 1, mitochondrial (EC 2.1.-) (16S rRNA (guanosine(1145)-2’-O)-methyltransferase) (16S rRNA [Gm1145] 2’-O-methyltransferase) Q6IN84 FUNCTION: S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.
PLAAT1
Phospholipase A and acyltransferase 1 (EC 2.1.-) (EC 3.1.32) (EC 3.1.4) (HRAS-like suppressor 1) (HRSL1) (Phospholipid-metabolizing enzyme A-C1) Q9HDD0 FUNCTION: Exhibits both phospholipase A1/2 and acyltransferase activities (, ). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (, , ). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid . Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE) which serves as precursor for N-acylethanolamines (NAEs) (, , ).
NAA16
N-alpha-acetyltransferase 16, NatA auxiliary subunit (NMDA receptor-regulated 1-like protein) (NARG1-like protein) Q6N069 FUNCTION: Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity.
PLAC4
Placenta-specific protein 4 Q8WY50
PLIN3
Perilipin-3 (47 kDa mannose 6-phosphate receptor-binding protein) (47 kDa MPR-binding protein) (Cargo selection protein TIP47) (Mannose-6-phosphate receptor-binding protein 1) (Placental protein 17) (PP17) O60664 FUNCTION: Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.
POU3F2
POU domain, class 3, transcription factor 2 (Brain-specific homeobox/POU domain protein 2) (Brain-2) (Brn-2) (Nervous system-specific octamer-binding transcription factor N-Oct-3) (Octamer-binding protein 7) (Oct-7) (Octamer-binding transcription factor 7) (OTF-7) P20265 FUNCTION: Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, (‘GCAT’) and (‘TAAT’), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity). SUBCELLULAR LOCATION: Nucleus.
PPP3CA
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform (EC 3.3.16) (CAM-PRP catalytic subunit) (Calmodulin-dependent calcineurin A subunit alpha isoform) Q08209 FUNCTION: Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (, , , ). Many of the substrates contain a PxIxIT motif and/or a LxVP motif (, , , , ). In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation . In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion . Dephosphorylates heat shock protein HSPB1 (By similarity). Dephosphorylates and activates transcription factor NFATC1 . In response to increased Ca(2+) levels, regulates NFAT-mediated transcription probably by dephosphorylating NFAT and promoting its nuclear translocation . Dephosphorylates and inactivates transcription factor ELK1 . Dephosphorylates DARPP32 . May dephosphorylate CRTC2 at ‘Ser-171’ resulting in CRTC2 dissociation from 14-3-3 proteins .
POU6F2
POU domain, class 6, transcription factor 2 (Retina-derived POU domain factor 1) (RPF-1) P78424 FUNCTION: Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5’-ATGCAAAT-3’. Isoform 1 does not bind DNA. SUBCELLULAR LOCATION: Nucleus .
PLPPR5
Phospholipid phosphatase-related protein type 5 (EC 3.3.-) (Lipid phosphate phosphatase-related protein type 5) (Phosphatidic acid phosphatase type 2d) (Plasticity-related gene 5 protein) (PRG-5) Q32ZL2 FUNCTION: Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction.
POC1A
POC1 centriolar protein homolog A (Pix2) (Proteome of centriole protein 1A) (WD repeat-containing protein 51A) Q8NBT0 FUNCTION: Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles.
POC5
Centrosomal protein POC5 (Protein of centriole 5) (hPOC5) Q8NA72 FUNCTION: Essential for the assembly of the distal half of centrioles, required for centriole elongation. Note=Localized to the distal portion of centrioles.
PLRG1
Pleiotropic regulator 1 O43660 FUNCTION: Involved in pre-mRNA splicing as component of the spliceosome (, ). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (, ).
MUC5AC
Mucin-5AC (MUC-5AC) (Gastric mucin) (Major airway glycoprotein) (Mucin-5 subtype AC, tracheobronchial) (Tracheobronchial mucin) (TBM) P98088 FUNCTION: Gel-forming glycoprotein of gastric and respiratory tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microorganisms and particles that are subsequently removed by the mucociliary system (, ). Interacts with H.pylori in the gastric epithelium, Barrett’s esophagus as well as in gastric metaplasia of the duodenum (GMD) .
PIP5K1B
Phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1-beta) (PtdIns(4)P-5-kinase 1 beta) (EC 2.1.68) (Phosphatidylinositol 4-phosphate 5-kinase type I beta) (PIP5KIbeta) (Protein STM-7) (Type I phosphatidylinositol 4-phosphate 5-kinase beta) O14986 FUNCTION: Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity).
PIAS3
E3 SUMO-protein ligase PIAS3 (EC 2.2.-) (E3 SUMO-protein transferase PIAS3) (Protein inhibitor of activated STAT protein 3) Q9Y6X2 FUNCTION: Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (, ). Sumoylates CCAR2 which promotes its interaction with SIRT1 . Diminishes the sumoylation of ZFHX3 by preventing the colocalization of ZFHX3 with SUMO1 in the nucleus .
RPL7A
60S ribosomal protein L7a (Large ribosomal subunit protein eL8) (PLA-X polypeptide) (Surfeit locus protein 3) P62424
PLS3
Plastin-3 (T-plastin) P13797 FUNCTION: Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development. SUBCELLULAR LOCATION: Cytoplasm.
ERVK-7
Endogenous retrovirus group K member 7 Pol protein (HERV-K(III) Pol protein) (HERV-K102 Pol protein) (HERV-K_1q22 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.49); Ribonuclease H (RNase H) (EC 3.26.4); Integrase (IN)] P63135 FUNCTION: Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.
PPP5D1
Protein PPP5D1 (PPP5 TPR repeat domain-containing protein 1) E7EU14
ERVK-10
Endogenous retrovirus group K member 10 Pol protein (HERV-K10 Pol protein) (HERV-K107 Pol protein) (HERV-K_5q33.3 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.49); Ribonuclease H (RNase H) (EC 3.26.4); Integrase (IN)] P10266 FUNCTION: Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution.
PPP6R3
Serine/threonine-protein phosphatase 6 regulatory subunit 3 (SAPS domain family member 3) (Sporulation-induced transcript 4-associated protein SAPL) Q5H9R7 FUNCTION: Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance. SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
MRPL30
39S ribosomal protein L30, mitochondrial (L30mt) (MRP-L30) (39S ribosomal protein L28, mitochondrial) (L28mt) (MRP-L28) (Mitochondrial large ribosomal subunit protein uL30m) Q8TCC3 SUBCELLULAR LOCATION: Mitochondrion .
RNF113A
E3 ubiquitin-protein ligase RNF113A (EC 2.2.27) (Cwc24 homolog) (RING finger protein 113A) (Zinc finger protein 183) O15541 FUNCTION: Required for pre-mRNA splicing as component of the spliceosome (, ). E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (, ). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical ‘Lys-63’-linked polyubiquitin chains . Plays a role in DNA repair via its role in the synthesis of ‘Lys-63’-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents . Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling .
PIGF
Phosphatidylinositol-glycan biosynthesis class F protein (PIG-F) (GPI11 homolog) Q07326 FUNCTION: Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI.
PIGB
GPI mannosyltransferase 3 (EC 2.1.-) (GPI mannosyltransferase III) (GPI-MT-III) (Phosphatidylinositol-glycan biosynthesis class B protein) (PIG-B) Q92521 FUNCTION: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly.
RPL7L1
60S ribosomal protein L7-like 1 (Large ribosomal subunit protein uL30-like 1) Q6DKI1
MRPL34
39S ribosomal protein L34, mitochondrial (L34mt) (MRP-L34) (Mitochondrial large ribosomal subunit protein bL34m) Q9BQ48 SUBCELLULAR LOCATION: Mitochondrion .
PIGP
Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (EC 2.1.198) (Down syndrome critical region protein 5) (Down syndrome critical region protein C) (Phosphatidylinositol-glycan biosynthesis class P protein) (PIG-P) P57054 FUNCTION: Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
PIGV
GPI mannosyltransferase 2 (EC 2.1.-) (GPI mannosyltransferase II) (GPI-MT-II) (Phosphatidylinositol-glycan biosynthesis class V protein) (PIG-V) Q9NUD9 FUNCTION: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.
PIGT
GPI transamidase component PIG-T (Phosphatidylinositol-glycan biosynthesis class T protein) Q969N2 FUNCTION: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
PIGZ
GPI mannosyltransferase 4 (EC 2.1.-) (GPI mannosyltransferase IV) (GPI-MT-IV) (Phosphatidylinositol-glycan biosynthesis class Z protein) (PIG-Z) (SMP3 homolog) (hSMP3) Q86VD9 FUNCTION: Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues.
PIGY
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y (Phosphatidylinositol-glycan biosynthesis class Y protein) (PIG-Y) Q3MUY2 FUNCTION: Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA.
ALPI
Intestinal-type alkaline phosphatase (IAP) (Intestinal alkaline phosphatase) (EC 3.3.1) P09923 SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
MRPL37
39S ribosomal protein L37, mitochondrial (L37mt) (MRP-L37) (39S ribosomal protein L2, mitochondrial) (L2mt) (MRP-L2) (Mitochondrial large ribosomal subunit protein mL37) Q9BZE1 SUBCELLULAR LOCATION: Mitochondrion .
MRPL38
39S ribosomal protein L38, mitochondrial (L38mt) (MRP-L38) (Mitochondrial large ribosomal subunit protein mL38) Q96DV4 SUBCELLULAR LOCATION: Mitochondrion .
PIM1
Serine/threonine-protein kinase pim-1 (EC 2.11.1) P11309 FUNCTION: Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity. The stabilization of MYC exerted by PIM1 might explain partly the strong synergism between these two oncogenes in tumorigenesis. Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Phosphorylation of MAP3K5, an other proapoptotic protein, by PIM1, significantly decreases MAP3K5 kinase activity and inhibits MAP3K5-mediated phosphorylation of JNK and JNK/p38MAPK subsequently reducing caspase-3 activation and cell apoptosis. Stimulates cell cycle progression at the G1-S and G2-M transitions by phosphorylation of CDC25A and CDC25C. Phosphorylation of CDKN1A, a regulator of cell cycle progression at G1, results in the relocation of CDKN1A to the cytoplasm and enhanced CDKN1A protein stability. Promote cell cycle progression and tumorigenesis by down-regulating expression of a regulator of cell cycle progression, CDKN1B, at both transcriptional and post-translational levels. Phosphorylation of CDKN1B, induces 14-3-3 proteins binding, nuclear export and proteasome-dependent degradation. May affect the structure or silencing of chromatin by phosphorylating HP1 gamma/CBX3. Acts also as a regulator of homing and migration of bone marrow cells involving functional interaction with the CXCL12-CXCR4 signaling axis. Also phosphorylates and activates the ATP-binding cassette transporter ABCG2, allowing resistance to drugs through their excretion from cells . SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane.
PIMREG
Protein PIMREG (CALM-interactor expressed in thymus and spleen) (PICALM-interacting mitotic regulator) (Regulator of chromosome segregation protein 1) Q9BSJ6 FUNCTION: During mitosis, may play a role in the control of metaphase-to-anaphase transition.
PPDPF
Pancreatic progenitor cell differentiation and proliferation factor (Exocrine differentiation and proliferation factor) Q9H3Y8 FUNCTION: Probable regulator of exocrine pancreas development.
PPIA
Peptidyl-prolyl cis-trans isomerase A (PPIase A) (EC 5.1.8) (Cyclophilin A) (Cyclosporin A-binding protein) (Rotamase A) [Cleaved into: Peptidyl-prolyl cis-trans isomerase A, N-terminally processed] P62937 FUNCTION: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Note=Secretion occurs in response to oxidative stress in vascular smooth muscle through a vesicular secretory pathway that involves actin remodeling and myosin II activation, and mediates ERK1/2 activation.
MRPL45
39S ribosomal protein L45, mitochondrial (L45mt) (MRP-L45) (Mitochondrial large ribosomal subunit protein mL45) Q9BRJ2 SUBCELLULAR LOCATION: Mitochondrion .
MRPL47
39S ribosomal protein L47, mitochondrial (L47mt) (MRP-L47) (Mitochondrial large ribosomal subunit protein uL29m) (Nasopharyngeal carcinoma metastasis-related protein 1) Q9HD33 SUBCELLULAR LOCATION: Mitochondrion .
PLVAP
Plasmalemma vesicle-associated protein (Fenestrated endothelial-linked structure protein) (Plasmalemma vesicle protein 1) (PV-1) Q9BX97 FUNCTION: Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development.
MRPL50
39S ribosomal protein L50, mitochondrial (L50mt) (MRP-L50) (Mitochondrial large ribosomal subunit protein mL50) Q8N5N7 SUBCELLULAR LOCATION: Mitochondrion .
PINLYP
phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein A6NC86 SUBCELLULAR LOCATION: Secreted .
PIN1P1
Putative PIN1-like protein (Peptidylprolyl cis-trans isomerase NIMA-interacting 1 pseudogene 1) O15428
PLXNC1
Plexin-C1 (Virus-encoded semaphorin protein receptor) (CD antigen CD232) O60486 FUNCTION: Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity).
PSTPIP2
Proline-serine-threonine phosphatase-interacting protein 2 (PEST phosphatase-interacting protein 2) Q9H939 FUNCTION: Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity).
PITPNB
Phosphatidylinositol transfer protein beta isoform (PI-TP-beta) (PtdIns transfer protein beta) (PtdInsTP beta) P48739 FUNCTION: Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes. SUBCELLULAR LOCATION: Cytoplasm .
PMS2P1
Putative postmeiotic segregation increased 2-like protein 1 (PMS2-related protein 2) (Postmeiotic segregation increased 2-like protein 13) (Postmeiotic segregation increased 2-like protein 6) (Postmeiotic segregation increased 2-like protein 8) (Postmeiotic segregation increased protein 3) (hPMS3) (Postmeiotic segregation increased protein 8) (Putative postmeiotic segregation increased 2 pseudogene 1) A4D2B8
PMS2P11
Putative postmeiotic segregation increased 2-like protein 11 (PMS2-related protein 6) (Putative postmeiotic segregation increased 2 pseudogene 11) Q13670
POLK
DNA polymerase kappa (EC 2.7.7) (DINB protein) (DINP) Q9UBT6 FUNCTION: DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3’-5’ proofreading exonuclease activity. Forms a Schiff base with 5’-deoxyribose phosphate at abasic sites, but does not have lyase activity.
PLAC1
Placenta-specific protein 1 Q9HBJ0 FUNCTION: May play a role in placental development.
PLB1
Phospholipase B1, membrane-associated (Phospholipase B) (hPLB) (Phospholipase B/lipase) (PLB/LIP) [Includes: Phospholipase A2 (EC 3.1.4); Lysophospholipase (EC 3.1.5)] Q6P1J6 FUNCTION: Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity).
AGPAT1
1-acyl-sn-glycerol-3-phosphate acyltransferase alpha (EC 2.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 1) (1-AGP acyltransferase 1) (1-AGPAT 1) (Lysophosphatidic acid acyltransferase alpha) (LPAAT-alpha) (Protein G15) Q99943 FUNCTION: Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.
NAA35
N-alpha-acetyltransferase 35, NatC auxiliary subunit (Embryonic growth-associated protein homolog) (Protein MAK10 homolog) Q5VZE5 FUNCTION: Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells.
POTEF
POTE ankyrin domain family member F (ANKRD26-like family C member 1B) (Chimeric POTE-actin protein) A5A3E0 SUBCELLULAR LOCATION: Cytoplasm, cell cortex . Note=Colocalizes with actin filaments.
RO60
60 kDa SS-A/Ro ribonucleoprotein (60 kDa Ro protein) (60 kDa ribonucleoprotein Ro) (Ro60) (RoRNP) (Ro 60 kDa autoantigen) (Ro60 autoantigen) (Sjoegren syndrome antigen A2) (Sjoegren syndrome type A antigen) (SS-A) (TROVE domain family member 2) P10155 FUNCTION: RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. May stabilize some of these RNAs and protect them from degradation . Binds to endogenous Alu retroelements which are induced by type I interferon and stimulate porinflammaotry cytokine secretion. Regulates the expression of Alu retroelements as well as inflammatory genes . Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
POLR2F
DNA-directed RNA polymerases I, II, and III subunit RPABC2 (RNA polymerases I, II, and III subunit ABC2) (DNA-directed RNA polymerase II subunit F) (DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide) (RPABC14.4) (RPB14.4) (RPB6 homolog) (RPC15) P61218 FUNCTION: DNA-dependent RNA polymerases catalyze the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of the clamp element and together with parts of RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplex binds (By similarity).
POLR2H
DNA-directed RNA polymerases I, II, and III subunit RPABC3 (RNA polymerases I, II, and III subunit ABC3) (DNA-directed RNA polymerase II subunit H) (DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide) (RPB17) (RPB8 homolog) (hRPB8) P52434 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.
RAP1GAP
Rap1 GTPase-activating protein 1 (Rap1GAP) (Rap1GAP1) P47736 FUNCTION: GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state. SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein.
RIMS1
Regulating synaptic membrane exocytosis protein 1 (Rab-3-interacting molecule 1) (RIM 1) (Rab-3-interacting protein 2) Q86UR5 FUNCTION: Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes .
RIN3
Ras and Rab interactor 3 (Ras interaction/interference protein 3) Q8TB24 FUNCTION: Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function.
RAB2B
Ras-related protein Rab-2B Q8WUD1 FUNCTION: Required for protein transport from the endoplasmic reticulum to the Golgi complex.
RAB41
Ras-related protein Rab-41 Q5JT25 FUNCTION: Required for normal Golgi ribbon organization and ER-to-Golgi trafficking. Note=punctate localization concentrated in ruffled regions at the cell periphery.
RAB42
Ras-related protein Rab-42 Q8N4Z0 SUBCELLULAR LOCATION: Membrane .
PUS3
tRNA pseudouridine(38/39) synthase (EC 5.99.45) (tRNA pseudouridine synthase 3) (tRNA pseudouridylate synthase 3) (tRNA-uridine isomerase 3) Q9BZE2 FUNCTION: Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.
RBM41
RNA-binding protein 41 (RNA-binding motif protein 41) Q96IZ5 FUNCTION: May bind RNA.
RBM28
RNA-binding protein 28 (RNA-binding motif protein 28) Q9NW13 FUNCTION: Nucleolar component of the spliceosomal ribonucleoprotein complexes.
RBSN
Rabenosyn-5 (110 kDa protein) (FYVE finger-containing Rab5 effector protein rabenosyn-5) (RAB effector RBSN) (Zinc finger FYVE domain-containing protein 20) Q9H1K0 FUNCTION: Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (, , ). Plays a role in the recycling of transferrin receptor to the plasma membrane .
SPCS1
Signal peptidase complex subunit 1 (EC 3.-.-) (Microsomal signal peptidase 12 kDa subunit) (SPase 12 kDa subunit) Q9Y6A9 FUNCTION: Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.
SHFL
Shiftless antiviral inhibitor of ribosomal frameshifting protein (SFL) (SHFL) (Interferon-regulated antiviral protein) (IRAV) (Repressor of yield of DENV protein) (RyDEN) Q9NUL5 FUNCTION: Inhibits programmed -1 ribosomal frameshifting (-1PRF) of a variety of mRNAs from viruses, such as HIV1, and cellular genes, such as PEG10. Interacts with the -1PRF signal of target mRNA and translating ribosomes and causes premature translation termination at the frameshifting site . Regulates HIV1 GAG-POL expression by inhibiting -1PRF . Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Can also limit the replication of hepatitis C virus (HCV), West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1) and human adenovirus (, ). Binds nucleic acids with a higher affinity for ssRNA and ssDNA than for dsDNA .
SPIB
Transcription factor Spi-B Q01892 FUNCTION: Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5’-GAGGAA-3’) that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC precursors (pre-DC2) or natural interferon (IFN)-producing cells. These cells have the capacity to produce large amounts of interferon and block viral replication. May be required for B-cell receptor (BCR) signaling, which is necessary for normal B-cell development and antigenic stimulation.
TREH
Trehalase (EC 3.1.28) (Alpha,alpha-trehalase) (Alpha,alpha-trehalose glucohydrolase) O43280 FUNCTION: Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose.
SCRT2
Transcriptional repressor scratch 2 (Scratch homolog 2 zinc finger protein) Q9NQ03 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TAB2
TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 2) (TAK1-binding protein 2) (TAB-2) (TGF-beta-activated kinase 1-binding protein 2) Q9NYJ8 FUNCTION: Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of ‘Lys-63’-linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at ‘Thr-187’. Involved in heart development. Note=Following IL1 stimulation, translocation occurs from the membrane to cytosol.
SHQ1
Protein SHQ1 homolog Q6PI26 FUNCTION: Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA. Note=May at least partially shuttle between cytosol and nucleoplasm. In the nucleoplasm, exhibits a granular pattern, but is excluded from nucleoli and Cajal bodies. Absent from most H/ACA-box RNA transcription sites.
SARNP
SAP domain-containing ribonucleoprotein (Cytokine-induced protein of 29 kDa) (Nuclear protein Hcc-1) (Proliferation-associated cytokine-inducible protein CIP29) P82979 FUNCTION: Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. SUBCELLULAR LOCATION: Nucleus. Nucleus speckle.
TRGJ1
T cell receptor gamma joining 1 A0A075B6S0 FUNCTION: J region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition . Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (, ). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells . Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements .
TRGC1
T cell receptor gamma constant 1 P0CF51 FUNCTION: Constant region of T cell receptor (TR) gamma chain that participates in the antigen recognition . Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (, ). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells . Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements .
TRGV5
T cell receptor gamma variable 5 A0A0B4J1U4 FUNCTION: V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition . Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (, ). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells . Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements .
TRH
Pro-thyrotropin-releasing hormone (Pro-TRH) (Prothyroliberin) [Cleaved into: Thyrotropin-releasing hormone (TRH) (Protirelin) (TSH-releasing factor) (Thyroliberin) (Thyrotropin-releasing factor) (TRF)] P20396 FUNCTION: As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes. SUBCELLULAR LOCATION: Secreted.
SDC3
Syndecan-3 (SYND3) O75056 FUNCTION: Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
TRIM22
E3 ubiquitin-protein ligase TRIM22 (EC 2.2.27) (50 kDa-stimulated trans-acting factor) (RING finger protein 94) (RING-type E3 ubiquitin transferase TRIM22) (Staf-50) (Tripartite motif-containing protein 22) Q8IYM9 FUNCTION: Interferon-induced antiviral protein involved in cell innate immunity. The antiviral activity could in part be mediated by TRIM22-dependent ubiquitination of viral proteins. Plays a role in restricting the replication of HIV-1, encephalomyocarditis virus (EMCV) and hepatitis B virus (HBV). Acts as a transcriptional repressor of HBV core promoter. May have E3 ubiquitin-protein ligase activity. Nucleus speckle. Nucleus, Cajal body. Note=Localizes predominantly to the nucleus, found in cytoplasm to some extent. Forms distinct nuclear bodies that undergo dynamic changes during cell cycle progression. Nuclear bodies start to form in the early G0/G1 phase but become speckle-like in the S-phase and completely dispersed in mitosis. 35% of TRIM22 nuclear bodies overlap or are found adjacent to Cajal bodies.
SOD3
Extracellular superoxide dismutase [Cu-Zn] (EC-SOD) (EC 1.15.1) P08294 FUNCTION: Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen. SUBCELLULAR LOCATION: Secreted, extracellular space. Note=99% of EC-SOD is anchored to heparan sulfate proteoglycans in the tissue interstitium, and 1% is located in the vasculature in equilibrium between the plasma and the endothelium.
TRIM14
Tripartite motif-containing protein 14 Q14142 FUNCTION: Plays a role in the innate immune defense against viruses. Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF-kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways . Positively regulates the CGAS-induced type I interferon signaling pathway by stabilizing CGAS and inhibiting its autophagic degradation .
SDCBP
Syntenin-1 (Melanoma differentiation-associated protein 9) (MDA-9) (Pro-TGF-alpha cytoplasmic domain-interacting protein 18) (TACIP18) (Scaffold protein Pbp1) (Syndecan-binding protein 1) O00560 FUNCTION: Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis . Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1 . In concert with SDC1/4 and PDCD6IP, regulates exosome biogenesis . Regulates migration, growth, proliferation, and cell cycle progression in a variety of cancer types . In adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. Seems to couple transcription factor SOX4 to the IL-5 receptor (IL5RA) . May also play a role in vesicular trafficking . Seems to be required for the targeting of TGFA to the cell surface in the early secretory pathway .
TRIM26
Tripartite motif-containing protein 26 (EC 2.2.27) (Acid finger protein) (AFP) (RING finger protein 95) (Zinc finger protein 173) Q12899 FUNCTION: E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1.
SDE2
Replication stress response regulator SDE2 Q6IQ49 FUNCTION: Involved in both DNA replication and cell cycle control . Unprocessed SDE2 interacts with PCNA via its PIP-box. The interaction with PCNA prevents monoubiquitination of the latter thereby inhibiting translesion DNA synthesis. The binding of SDE2 to PCNA also leads to processing of SDE2 by an unidentified deubiquitinating enzyme, cleaving off the N-terminal ubiquitin-like domain. The resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner . Binding of SDE2 to PCNA is necessary to counteract damage due to ultraviolet light induced replication stress. The complete degradation of SDE2 is necessary to allow S-phase progression .
SDF2L1
Stromal cell-derived factor 2-like protein 1 (SDF2-like protein 1) (PWP1-interacting protein 8) Q9HCN8 SUBCELLULAR LOCATION: Endoplasmic reticulum lumen .
TRIM34
Tripartite motif-containing protein 34 (Interferon-responsive finger protein 1) (RING finger protein 21) Q9BYJ4 FUNCTION: May function as antiviral protein and may contribute to the defense against retroviral infections.
SPPL2B
Signal peptide peptidase-like 2B (SPP-like 2B) (SPPL2b) (EC 3.23.-) (Intramembrane protease 4) (IMP-4) (Presenilin homologous protein 4) (PSH4) (Presenilin-like protein 1) Q8TCT7 FUNCTION: Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing (, , , , ). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (, ). May play a role in the regulation of innate and adaptive immunity . Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis .
SEMA3A
Semaphorin-3A (Semaphorin III) (Sema III) Q14563 FUNCTION: Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1.
SPOPL
Speckle-type POZ protein-like (HIB homolog 2) (Roadkill homolog 2) Q6IQ16 FUNCTION: Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, but with relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL are less efficient than ubiquitin ligase complexes containing only SPOP. May function to down-regulate the activity of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes that contain SPOP.
TSEN54
tRNA-splicing endonuclease subunit Sen54 (SEN54 homolog) (HsSEN54) (tRNA-intron endonuclease Sen54) Q7Z6J9 FUNCTION: Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5’ and 3’ splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2’,3’ cyclic phosphate and 5’-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3’-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3’-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.
SENP2
Sentrin-specific protease 2 (EC 3.22.-) (Axam2) (SMT3-specific isopeptidase 2) (Smt3ip2) (Sentrin/SUMO-specific protease SENP2) Q9HC62 FUNCTION: Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. May down-regulate CTNNB1 levels and thereby modulate the Wnt pathway. Deconjugates SUMO2 from MTA1. Plays a dynamic role in adipogenesis by desumoylating and promoting the stabilization of CEBPB .
SPRR4
Small proline-rich protein 4 Q96PI1 FUNCTION: Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cell cortex. Note=Translocates to the cell periphery of keratinocytes and is integrated into both rigid and fragile cornified envelopes.
SPARCL1
SPARC-like protein 1 (High endothelial venule protein) (Hevin) (MAST 9) Q14515 SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix .
TRIML1
Probable E3 ubiquitin-protein ligase TRIML1 (EC 2.2.27) (RING finger protein 209) (RING-type E3 ubiquitin transferase TRIML1) (Tripartite motif family-like protein 1) Q8N9V2 FUNCTION: Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development.
SEPHS1
Selenide, water dikinase 1 (EC 2.9.3) (Selenium donor protein 1) (Selenophosphate synthase 1) P49903 FUNCTION: Synthesizes selenophosphate from selenide and ATP. SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane. Nucleus membrane.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm.
SYTL5
Synaptotagmin-like protein 5 Q8TDW5 FUNCTION: May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids. SUBCELLULAR LOCATION: Membrane .
SECISBP2
Selenocysteine insertion sequence-binding protein 2 (SECIS-binding protein 2) Q96T21 FUNCTION: Binds to the SECIS element in the 3’-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB. SUBCELLULAR LOCATION: [Isoform 1]: Nucleus .
SYTL2
Synaptotagmin-like protein 2 (Breast cancer-associated antigen SGA-72M) (Exophilin-4) Q9HCH5 FUNCTION: Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive.
SUPT4H1
Transcription elongation factor SPT4 (hSPT4) (DRB sensitivity-inducing factor 14 kDa subunit) (DSIF p14) (DRB sensitivity-inducing factor small subunit) (DSIF small subunit) P63272 FUNCTION: Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3’ terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences.
FTSJ1
Putative tRNA (cytidine(32)/guanosine(34)-2’-O)-methyltransferase (EC 2.1.205) (2’-O-ribose RNA methyltransferase TRM7 homolog) (Protein ftsJ homolog 1) Q9UET6 FUNCTION: Methylates the 2’-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.
PSAT1
Phosphoserine aminotransferase (EC 2.1.52) (Phosphohydroxythreonine aminotransferase) (PSAT) Q9Y617 FUNCTION: Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.
SPATA3
Spermatogenesis-associated protein 3 (Testis and spermatogenesis cell-related protein 1) (Testis spermatocyte apoptosis-related protein 1) Q8NHX4
TIMMDC1
Complex I assembly factor TIMMDC1, mitochondrial (Protein M5-14) (Translocase of inner mitochondrial membrane domain-containing protein 1) (TIMM domain containing-protein 1) Q9NPL8 FUNCTION: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.
TGS1
Trimethylguanosine synthase (EC 2.1.-) (CLL-associated antigen KW-2) (Cap-specific guanine-N2 methyltransferase) (Hepatocellular carcinoma-associated antigen 137) (Nuclear receptor coactivator 6-interacting protein) (PRIP-interacting protein with methyltransferase motif) (PIMT) (PIPMT) Q96RS0 FUNCTION: Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation.
PHETA2
Sesquipedalian-2 (Ses2) (27 kDa inositol polyphosphate phosphatase interacting protein B) (IPIP27B) (PH domain-containing endocytic trafficking adaptor 2) Q6ICB4 FUNCTION: Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.
LARS
Leucine–tRNA ligase, cytoplasmic (EC 6.1.4) (Leucyl-tRNA synthetase) (LeuRS) Q9P2J5 FUNCTION: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs.
TANGO2
Transport and Golgi organization protein 2 homolog Q6ICL3 SUBCELLULAR LOCATION: Golgi apparatus .
TNIP3
TNFAIP3-interacting protein 3 (A20-binding inhibitor of NF-kappa-B activation 3) (ABIN-3) (Listeria-induced gene protein) Q96KP6 FUNCTION: Binds to zinc finger protein TNFAIP3 and inhibits NF-kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13-acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding.
SLC35A1
CMP-sialic acid transporter (CMP-SA-Tr) (CMP-Sia-Tr) (Solute carrier family 35 member A1) P78382 FUNCTION: Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function . Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity).
RSAD2
Radical S-adenosyl methionine domain-containing protein 2 (Cytomegalovirus-induced gene 5 protein) (Viperin) (Virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible) Q8WXG1 FUNCTION: Interferon-inducible iron-sulfur (4FE-4S) cluster-binding antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Can inhibit a wide range of DNA and RNA viruses, including human cytomegalovirus (HCMV), hepatitis C virus (HCV), west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus, vesicular stomatitis virus (VSV), and human immunodeficiency virus (HIV-1). Displays antiviral activity against influenza A virus by inhibiting the budding of the virus from the plasma membrane by disturbing the lipid rafts. This is accomplished, at least in part, through binding and inhibition of the enzyme farnesyl diphosphate synthase (FPPS), which is essential for the biosynthesis of isoprenoid-derived lipids. Promotes TLR7 and TLR9-dependent production of IFN-beta production in plasmacytoid dendritic cells (pDCs) by facilitating Lys-63’-linked ubiquitination of IRAK1. Plays a role in CD4+ T-cells activation and differentiation. Facilitates T-cell receptor (TCR)-mediated GATA3 activation and optimal T-helper 2 (Th2) cytokine production by modulating NFKB1 and JUNB activities. Can inhibit secretion of soluble proteins. Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Note=Infection with human cytomegalovirus (HCMV) causes relocation to the Golgi apparatus and to cytoplasmic vacuoles which also contain HCMV proteins glycoprotein B and pp28. Interaction with human cytomegalovirus/HHV-5 protein vMIA/UL37 results in its relocalization from the endoplasmic reticulum to the mitochondria.
SLC35E1
Solute carrier family 35 member E1 Q96K37 FUNCTION: Putative transporter.
RPS2
40S ribosomal protein S2 (40S ribosomal protein S4) (Protein LLRep3) (Small ribosomal subunit protein uS5) P15880
SLC36A1
Proton-coupled amino acid transporter 1 (Proton/amino acid transporter 1) (hPAT1) (Solute carrier family 36 member 1) Q7Z2H8 FUNCTION: Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).
SLC35G4
Putative solute carrier family 35 member G4 (Acyl-malonyl-condensing enzyme 1-like protein 1) P0C7Q5 SUBCELLULAR LOCATION: Membrane .
SIM1
Single-minded homolog 1 (Class E basic helix-loop-helix protein 14) (bHLHe14) P81133 FUNCTION: Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. SUBCELLULAR LOCATION: Nucleus .
SLC38A10
Putative sodium-coupled neutral amino acid transporter 10 (Solute carrier family 38 member 10) Q9HBR0 FUNCTION: Putative sodium-dependent amino acid/proton antiporter.
SIPA1
Signal-induced proliferation-associated protein 1 (Sipa-1) (GTPase-activating protein Spa-1) (p130 SPA-1) Q96FS4 FUNCTION: GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state . Affects cell cycle progression (By similarity).
SRPK1
SRSF protein kinase 1 (EC 2.11.1) (SFRS protein kinase 1) (Serine/arginine-rich protein-specific kinase 1) (SR-protein-specific kinase 1) Q96SB4 FUNCTION: Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activities, such as chromatin reorganization in somatic and sperm cells and cell cycle progression. Isoform 2 phosphorylates SFRS2, ZRSR2, LBR and PRM1. Isoform 2 phosphorylates SRSF1 using a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds first to a docking groove in the large lobe of the kinase domain of SRPK1. This induces certain structural changes in SRPK1 and/or RRM2 domain of SRSF1, allowing RRM2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM2, which then docks at the docking groove of SRPK1. This also signals RRM2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed. Isoform 2 can mediate hepatitis B virus (HBV) core protein phosphorylation. It plays a negative role in the regulation of HBV replication through a mechanism not involving the phosphorylation of the core protein but by reducing the packaging efficiency of the pregenomic RNA (pgRNA) without affecting the formation of the viral core particles. Isoform 1 and isoform 2 can induce splicing of exon 10 in MAPT/TAU. The ratio of isoform 1/isoform 2 plays a decisive role in determining cell fate in K-562 leukaemic cell line: isoform 2 favors proliferation where as isoform 1 favors differentiation. SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus. Nucleus matrix. Microsome. Note=Shuttles between the nucleus and the cytoplasm. Inhibition of the Hsp90 ATPase activity, osmotic stress and interaction with HHV-1 ICP27 protein can induce its translocation to the nucleus. KAT5/TIP60 inhibits its nuclear translocation.; SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm. Nucleus matrix. Microsome. Note=Mainly localized in the microsomal fraction and the cytoplasm, and to a lesser extent in the nuclear matrix.
SHISAL1
Protein shisa-like-1 Q3SXP7 SUBCELLULAR LOCATION: Membrane .
TAGAP
T-cell activation Rho GTPase-activating protein (T-cell activation GTPase-activating protein) Q8N103 FUNCTION: May function as a GTPase-activating protein and may play important roles during T-cell activation.
TAF12
Transcription initiation factor TFIID subunit 12 (Transcription initiation factor TFIID 20/15 kDa subunits) (TAFII-20/TAFII-15) (TAFII20/TAFII15) Q16514 FUNCTION: TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. SUBCELLULAR LOCATION: Nucleus .
SVIP
Small VCP/p97-interacting protein Q8NHG7 SUBCELLULAR LOCATION: Smooth endoplasmic reticulum membrane .
IGHMBP2
DNA-binding protein SMUBP-2 (EC 3.4.12) (EC 3.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2) P38935 FUNCTION: 5’ to 3’ helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5’-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5’-GGGCT-3’ motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.
SMC6
Structural maintenance of chromosomes protein 6 (SMC protein 6) (SMC-6) (hSMC6) Q96SB8 FUNCTION: Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome .
SEC11C
Signal peptidase complex catalytic subunit SEC11C (EC 3.21.89) (Microsomal signal peptidase 21 kDa subunit) (SPase 21 kDa subunit) (SEC11 homolog C) (SEC11-like protein 3) (SPC21) Q9BY50 FUNCTION: Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.
S100A16
Protein S100-A16 (Aging-associated gene 13 protein) (Protein S100-F) (S100 calcium-binding protein A16) Q96FQ6 FUNCTION: Calcium-binding protein. Binds one calcium ion per monomer . Can promote differentiation of adipocytes (in vitro) (By similarity). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake (By similarity). Note=Primarily nucleolar. A high intracellular calcium level induces nucleolar exit and nucleocytoplasmic transport, whereas a low intracellular calcium level leads to nuclear translocation and accumulation within specific region of nucleoli .
SLC22A8
Solute carrier family 22 member 8 (Organic anion transporter 3) (hOAT3) Q8TCC7 FUNCTION: Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone-3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA).
SULT2A1
Bile salt sulfotransferase (EC 2.2.14) (Dehydroepiandrosterone sulfotransferase) (DHEA-ST) (Hydroxysteroid Sulfotransferase) (HST) (ST2) (ST2A3) (Sulfotransferase 2A1) (ST2A1) Q06520 FUNCTION: Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. SUBCELLULAR LOCATION: Cytoplasm.
TMEM209
Transmembrane protein 209 Q96SK2 SUBCELLULAR LOCATION: Membrane .
STAT5A
Signal transducer and activator of transcription 5A P42229 FUNCTION: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation. Note=Translocated into the nucleus in response to phosphorylation.
SCAMP1
Secretory carrier-associated membrane protein 1 (Secretory carrier membrane protein 1) O15126 FUNCTION: Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface. SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane .
SLC25A33
Solute carrier family 25 member 33 (Bone marrow stromal cell mitochondrial carrier protein) (BMSC-MCP) (HuBMSC-MCP) (Protein PNC1) Q9BSK2 FUNCTION: Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria . Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism . Also transports guanine but not adenine (deoxy)nucleotides . Is inhibited strongly by pyridoxal 5’-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate) . Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration . Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (, ). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation .
STAG3
Cohesin subunit SA-3 (SCC3 homolog 3) (Stromal antigen 3) (Stromalin-3) Q9UJ98 FUNCTION: Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I.
SMIM7
Small integral membrane protein 7 Q9BQ49 SUBCELLULAR LOCATION: Membrane .
SMIM8
Small integral membrane protein 8 Q96KF7 SUBCELLULAR LOCATION: Membrane .
SMIM2
Small integral membrane protein 2 Q9BVW6 SUBCELLULAR LOCATION: Membrane .
TRAPPC11
Trafficking protein particle complex subunit 11 Q7Z392 FUNCTION: Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.
TMEM244
Transmembrane protein 244 Q5VVB8 SUBCELLULAR LOCATION: Membrane .
STK26
Serine/threonine-protein kinase 26 (EC 2.11.1) (MST3 and SOK1-related kinase) (Mammalian STE20-like protein kinase 4) (MST-4) (STE20-like kinase MST4) (Serine/threonine-protein kinase MASK) Q9P289 FUNCTION: Mediator of cell growth (, ). Modulates apoptosis (, ). In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation .
TYW5
tRNA wybutosine-synthesizing protein 5 (hTYW5) (EC 1.14.11.42) (tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-C(2))-hydroxylase) A2RUC4 FUNCTION: tRNA hydroxylase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3’-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the hydroxylation of 7-(a-amino-a-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW). OHyW being further transformed into hydroxywybutosine (OHyW) by LCMT2/TYW4. OHyW is a derivative of wybutosine found in higher eukaryotes.
YY1
Transcriptional repressor protein YY1 (Delta transcription factor) (INO80 complex subunit S) (NF-E1) (Yin and yang 1) (YY-1) P25490 FUNCTION: Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5’-CCGCCATNTT-3’; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes. Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression. For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence. Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression . Binds to SMAD binding elements (SBEs) (5’-GTCT/AGAC-3’) within BMP response element (BMPRE) of cardiac activating regions. May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed. Involved in DNA repair. In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation . Note=Associated with the nuclear matrix.
MRPS2
28S ribosomal protein S2, mitochondrial (MRP-S2) (S2mt) (Mitochondrial small ribosomal subunit protein uS2m) Q9Y399 FUNCTION: Required for mitoribosome formation and stability, and mitochondrial translation.
TRPV6
Transient receptor potential cation channel subfamily V member 6 (TrpV6) (CaT-like) (CaT-L) (Calcium transport protein 1) (CaT1) (Epithelial calcium channel 2) (ECaC2) Q9H1D0 FUNCTION: Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (, , , , ). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification . Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating.
STMND1
Stathmin domain-containing protein 1 H3BQB6
STOML3
Stomatin-like protein 3 (SLP-3) Q8TAV4 FUNCTION: Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations.
MRPS9
28S ribosomal protein S9, mitochondrial (MRP-S9) (S9mt) (Mitochondrial small ribosomal subunit protein uS9m) P82933 SUBCELLULAR LOCATION: Mitochondrion .
UNC119
Protein unc-119 homolog A (Retinal protein 4) (hRG4) Q13432 FUNCTION: Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.
STMN3
Stathmin-3 (SCG10-like protein) Q9NZ72 FUNCTION: Exhibits microtubule-destabilizing activity, which is antagonized by STAT3.
STMN4
Stathmin-4 (Stathmin-like protein B3) (RB3) Q9H169 FUNCTION: Exhibits microtubule-destabilizing activity.
YBEY
Endoribonuclease YbeY (EC 3.-.-) P58557 FUNCTION: Single strand-specific metallo-endoribonuclease involved in rRNA maturation.
TCP11L2
T-complex protein 11-like protein 2 Q8N4U5
TCP11X2
T-complex protein 11 X-linked protein 2 Q5H9J9
MRPS18B
28S ribosomal protein S18b, mitochondrial (MRP-S18-b) (Mrps18-b) (S18mt-b) (28S ribosomal protein S18-2, mitochondrial) (MRP-S18-2) (Mitochondrial small ribosomal subunit protein bS18b) (Mitochondrial small ribosomal subunit protein mS40) Q9Y676 SUBCELLULAR LOCATION: Mitochondrion .
TMEM120A
Transmembrane protein 120A (Transmembrane protein induced by tumor necrosis factor alpha) Q9BXJ8 FUNCTION: Necessary for efficient adipogenesis .
XKR5
XK-related protein 5 Q6UX68 SUBCELLULAR LOCATION: Membrane .
TFDP1
Transcription factor Dp-1 (DRTF1-polypeptide 1) (DRTF1) (E2F dimerization partner 1) Q14186 FUNCTION: Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5’-TTTC[CG]CGC-3’, found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication (, ). The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters .
TMEM121B
Transmembrane protein 121B (Cat eye syndrome critical region protein 6) Q9BXQ6
U2AF1L4
Splicing factor U2AF 26 kDa subunit (U2 auxiliary factor 26) (U2 small nuclear RNA auxiliary factor 1-like protein 4) (U2AF1-like 4) (U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3) (U2 small nuclear RNA auxiliary factor 1-like protein 3) (U2AF1-like protein 3) Q8WU68 FUNCTION: RNA-binding protein that function as a pre-mRNA splicing factor. Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3’-splice site selection. Acts by enhancing the binding of U2AF2 to weak pyrimidine tracts. Also participates in the regulation of alternative pre-mRNA splicing. Activates exon 5 skipping of PTPRC during T-cell activation; an event reversed by GFI1. Binds to RNA at the AG dinucleotide at the 3’-splice site (By similarity). Shows a preference for AGC or AGA (By similarity).
XKR7
XK-related protein 7 Q5GH72 SUBCELLULAR LOCATION: Membrane .
TFDP2
Transcription factor Dp-2 (E2F dimerization partner 2) Q14188 FUNCTION: Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5’-TTTC[CG]CGC-3’, found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell-cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters . SUBCELLULAR LOCATION: Nucleus.
TUT1
Speckle targeted PIP5K1A-regulated poly(A) polymerase (Star-PAP) (EC 2.7.19) (RNA-binding motif protein 21) (RNA-binding protein 21) (U6 snRNA-specific terminal uridylyltransferase 1) (U6-TUTase) (EC 2.7.52) Q9H6E5 FUNCTION: Poly(A) polymerase that creates the 3’-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3’-end cleavage of pre-mRNAs: binds to the 3’UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3’UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3’-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation.
MRPS21
28S ribosomal protein S21, mitochondrial (MRP-S21) (S21mt) (Mitochondrial small ribosomal subunit protein bS21m) P82921 SUBCELLULAR LOCATION: Mitochondrion .
XKR9
XK-related protein 9 Q5GH70 SUBCELLULAR LOCATION: Membrane .
XKRY2
Testis-specific XK-related protein, Y-linked 2 A2RUG3 SUBCELLULAR LOCATION: Membrane .
XKRY
Testis-specific XK-related protein, Y-linked O14609 SUBCELLULAR LOCATION: Membrane .
TMEM132B
Transmembrane protein 132B Q14DG7 SUBCELLULAR LOCATION: Membrane .
TFE3
Transcription factor E3 (Class E basic helix-loop-helix protein 33) (bHLHe33) P19532 FUNCTION: Transcription factor that specifically recognizes and binds E-box sequences (5’-CANNTG-3’) (By similarity). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer . It also binds very well to a USF/MLTF site . May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 . SUBCELLULAR LOCATION: Nucleus.
THOC6
THO complex subunit 6 homolog (Functional spliceosome-associated protein 35) (fSAP35) (WD repeat-containing protein 58) Q86W42 FUNCTION: Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development.
THOC7
THO complex subunit 7 homolog (Functional spliceosome-associated protein 24) (fSAP24) (Ngg1-interacting factor 3-like protein 1-binding protein 1) (NIF3L1-binding protein 1) (hTREX30) Q6I9Y2 FUNCTION: Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway.
TFEB
Transcription factor EB (Class E basic helix-loop-helix protein 35) (bHLHe35) P19484 FUNCTION: Transcription factor that specifically recognizes and binds E-box sequences (5’-CANNTG-3’). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5’-GTCACGTGAC-3’) present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta. Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 .
TMEM150B
Modulator of macroautophagy TMEM150B (Protein DRAM-3) (Transmembrane protein 150B) (Transmembrane protein 224) A6NC51 FUNCTION: Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux . Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner . May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival .
UHRF1BP1
UHRF1-binding protein 1 (ICBP90-binding protein 1) (Ubiquitin-like containing PHD and RING finger domains 1-binding protein 1) Q6BDS2 FUNCTION: May act as a negative regulator of cell growth.
TRMO
tRNA (adenine(37)-N6)-methyltransferase (EC 2.1.-) (tRNA methyltransferase O) Q9BU70 FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase responsible for the addition of the methyl group in the formation of N6-methyl-N6-threonylcarbamoyladenosine at position 37 (m(6)t(6)A37) of the tRNA anticodon loop of tRNA(Ser)(GCU) . The methyl group of m(6)t(6)A37 may improve the efficiency of the tRNA decoding ability. May bind to tRNA (By similarity).
TUBA8
Tubulin alpha-8 chain (Alpha-tubulin 8) (Tubulin alpha chain-like 2) Q9NY65 FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
YIPF3
Protein YIPF3 (Killer lineage protein 1) (Natural killer cell-specific antigen KLIP1) (YIP1 family member 3) [Cleaved into: Protein YIPF3, 36 kDa form III] Q9GZM5 FUNCTION: Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis. ; Multi-pass membrane protein. Note=Localization to the cytoplasm or to the cell membrane is developmentally and ontogenetically regulated.
MRPL57
Ribosomal protein 63, mitochondrial (hMRP63) (Mitochondrial large ribosomal subunit protein mL63) (Mitochondrial ribosomal protein 63) (Mitochondrial ribosomal protein L57) Q9BQC6 SUBCELLULAR LOCATION: Mitochondrion .
TMEM184B
Transmembrane protein 184B (Putative MAPK-activating protein FM08) Q9Y519 FUNCTION: May activate the MAP kinase signaling pathway.
MPST
3-mercaptopyruvate sulfurtransferase (MST) (EC 2.1.2) P25325 FUNCTION: Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions.
RTKN
Rhotekin Q9BST9 FUNCTION: Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures.
RTL8C
Retrotransposon Gag-like protein 8C (Mammalian retrotransposon derived protein 8C) A6ZKI3
TAS2R19
Taste receptor type 2 member 19 (Taste receptor type 2 member 23) (Taste receptor type 2 member 48) (T2R48) P59542 FUNCTION: Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
STX2
Syntaxin-2 (Epimorphin) P32856 FUNCTION: Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. SUBCELLULAR LOCATION: Membrane; Single-pass type IV membrane protein.
TIA1
Nucleolysin TIA-1 isoform p40 (RNA-binding protein TIA-1) (T-cell-restricted intracellular antigen-1) (TIA-1) (p40-TIA-1) P31483 FUNCTION: Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3’ untranslated regions (3’ UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis. SUBCELLULAR LOCATION: Cytoplasm, Stress granule .
TAS2R45
Taste receptor type 2 member 45 (T2R45) (G-protein coupled receptor 59) P59539 FUNCTION: Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TM4SF1
Transmembrane 4 L6 family member 1 (Membrane component chromosome 3 surface marker 1) (Tumor-associated antigen L6) P30408 SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Note=Colocalizes with SDCBP2 in the apical region of the cell .
CDC14A
Dual specificity protein phosphatase CDC14A (EC 3.3.16) (EC 3.3.48) (CDC14 cell division cycle 14 homolog A) Q9UNH5 FUNCTION: Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. Required for normal hearing .
BTBD6
BTB/POZ domain-containing protein 6 (Lens BTB domain protein) Q96KE9 FUNCTION: Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity).
ALKBH8
Alkylated DNA repair protein alkB homolog 8 (EC 1.14.11.-) (Probable alpha-ketoglutarate-dependent dioxygenase ABH8) (S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8) (tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8) (EC 2.1.229) Q96BT7 FUNCTION: Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (, ). Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA (, ). Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its dioxygenase domain, giving rise to 5-(S)-methoxycarbonylhydroxymethyluridine; has a preference for tRNA(Gly) . Required for normal survival after DNA damage . May inhibit apoptosis and promote cell survival and angiogenesis .
C6orf118
Uncharacterized protein C6orf118 Q5T5N4
CCDC186
Coiled-coil domain-containing protein 186 (CTCL tumor antigen HD-CL-01/L14-2) Q7Z3E2
ALMS1
Alstrom syndrome protein 1 Q8TCU4 FUNCTION: Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.
C8orf34
Uncharacterized protein C8orf34 (Protein VEST-1) Q49A92
CCDC82
Coiled-coil domain-containing protein 82 Q8N4S0
ARSF
Arylsulfatase F (ASF) (EC 3.6.-) P54793 SUBCELLULAR LOCATION: Secreted .
COBLL1
Cordon-bleu protein-like 1 Q53SF7
ADAMTS8
A disintegrin and metalloproteinase with thrombospondin motifs 8 (ADAM-TS 8) (ADAM-TS8) (ADAMTS-8) (EC 3.24.-) (METH-2) (METH-8) Q9UP79 FUNCTION: Has anti-angiogenic properties. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix .
ARFGEF1
Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (Brefeldin A-inhibited GEP 1) (ADP-ribosylation factor guanine nucleotide-exchange factor 1) (p200 ARF guanine nucleotide exchange factor) (p200 ARF-GEP1) Q9Y6D6 FUNCTION: Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined. Note=Translocates from cytoplasm to membranes and nucleus upon cAMP treatment.
CCN6
Cellular communication network factor 6 (CCN family member 6) (WNT1-inducible-signaling pathway protein 3) (WISP-3) O95389 FUNCTION: Plays a role in mitochondrial electron transport and mitochondrial respiration . Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (, ).
BIN2
Bridging integrator 2 (Breast cancer-associated protein 1) Q9UBW5 FUNCTION: Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis.
