Human Genes Group 8 Flashcards
CCN1
CCN family member 1 (Cellular communication network factor 1) (Cysteine-rich angiogenic inducer 61) (Insulin-like growth factor-binding protein 10) (IBP-10) (IGF-binding protein 10) (IGFBP-10) (Protein CYR61) (Protein GIG1) O00622 FUNCTION: Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CCN1-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migration through integrin alpha-v/beta-5 and cell proliferation through integrin alpha-v/beta-3. SUBCELLULAR LOCATION: Secreted.
CCNB2
G2/mitotic-specific cyclin-B2 O95067 FUNCTION: Essential for the control of the cell cycle at the G2/M (mitosis) transition.
MLLT11
Protein AF1q Q13015 FUNCTION: Cofactor for the transcription factor TCF7 . Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate .
CCSER2
Serine-rich coiled-coil domain-containing protein 2 (Coiled-coil serine-rich protein 2) (Protein GCAP14 homolog) Q9H7U1 FUNCTION: Microtubule-binding protein which might play a role in microtubule bundling.
CCS
Copper chaperone for superoxide dismutase (Superoxide dismutase copper chaperone) O14618 FUNCTION: Delivers copper to copper zinc superoxide dismutase (SOD1). SUBCELLULAR LOCATION: Cytoplasm .
CCNYL2
Cyclin-Y-like protein 2 Q5T2Q4
CDCA7
Cell division cycle-associated protein 7 (Protein JPO1) Q9BWT1 FUNCTION: Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. May play a role as transcriptional regulator. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear with some expression also seen in the cytoplasm. Predominantly cytoplasmic when phosphorylated at Thr-163.
CDCA3
Cell division cycle-associated protein 3 (Gene-rich cluster protein C8) (Trigger of mitotic entry protein 1) (TOME-1) Q99618 FUNCTION: F-box-like protein which is required for entry into mitosis. Acts by participating in E3 ligase complexes that mediate the ubiquitination and degradation of WEE1 kinase at G2/M phase (By similarity).
BMP10
Bone morphogenetic protein 10 (BMP-10) O95393 FUNCTION: Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines.
ARHGEF28
Rho guanine nucleotide exchange factor 28 (190 kDa guanine nucleotide exchange factor) (p190-RhoGEF) (p190RhoGEF) (Rho guanine nucleotide exchange factor) Q8N1W1 FUNCTION: Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity).
BBX
HMG box transcription factor BBX (Bobby sox homolog) (HMG box-containing protein 2) Q8WY36 FUNCTION: Transcription factor that is necessary for cell cycle progression from G1 to S phase.
C13orf46
Uncharacterized protein C13orf46 A0A1B0GUA9
CHMP4B
Charged multivesicular body protein 4b (Chromatin-modifying protein 4b) (CHMP4b) (SNF7 homolog associated with Alix 1) (SNF7-2) (hSnf7-2) (Vacuolar protein sorting-associated protein 32-2) (Vps32-2) (hVps32-2) Q9H444 FUNCTION: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released (, ). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis . Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase . Plays a role in the endosomal sorting pathway. ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan .
MPIG6B
Megakaryocyte and platelet inhibitory receptor G6b (Protein G6b) O95866 FUNCTION: Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (, , ). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide . This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling . Appears to operate in a calcium-independent manner .
DENND5A
DENN domain-containing protein 5A (Rab6-interacting protein 1) (Rab6IP1) Q6IQ26 FUNCTION: Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity).
FILIP1
Filamin-A-interacting protein 1 (FILIP) Q7Z7B0 FUNCTION: By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A.
FOXJ2
Forkhead box protein J2 (Fork head homologous X) Q9P0K8 FUNCTION: Transcriptional activator. Able to bind to two different type of DNA binding sites. Isoform FOXJ2.L behaves as a more potent transactivator than FOXJ2. SUBCELLULAR LOCATION: Nucleus.
FBXL2
F-box/LRR-repeat protein 2 (F-box and leucine-rich repeat protein 2) (F-box protein FBL2/FBL3) Q9UKC9 FUNCTION: Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degradation induces cell-cycle arrest in G(0) (, ). SCF(FBXL2) also mediates PIK3R2 ubiquitination and proteasomal degradation thereby regulating phosphatidylinositol 3-kinase signaling and autophagy . PCYT1A monoubiquitination by SCF(FBXL2) and subsequent degradation regulates synthesis of phosphatidylcholine, which is utilized for formation of membranes and of pulmonary surfactant (By similarity).
FCRL2
Fc receptor-like protein 2 (FcR-like protein 2) (FcRL2) (Fc receptor homolog 2) (FcRH2) (IFGP family protein 4) (Immunoglobulin receptor translocation-associated protein 4) (SH2 domain-containing phosphatase anchor protein 1) (CD antigen CD307b) Q96LA5 FUNCTION: May have an regulatory role in normal and neoplastic B cell development.
FRAT2
GSK-3-binding protein FRAT2 (Frequently rearranged in advanced T-cell lymphomas 2) (FRAT-2) O75474 FUNCTION: Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3.
FCRL5
Fc receptor-like protein 5 (FcR-like protein 5) (FcRL5) (BXMAS1) (Fc receptor homolog 5) (FcRH5) (Immune receptor translocation-associated protein 2) (CD antigen CD307e) Q96RD9 FUNCTION: May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells.
MFGE8
Lactadherin (Breast epithelial antigen BA46) (HMFG) (MFGM) (Milk fat globule-EGF factor 8) (MFG-E8) (SED1) [Cleaved into: Lactadherin short form; Medin] Q08431 FUNCTION: Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein which may play a role in gamete interaction.
EIF4E
Eukaryotic translation initiation factor 4E (eIF-4E) (eIF4E) (eIF-4F 25 kDa subunit) (mRNA cap-binding protein) P06730 FUNCTION: Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates the binding to the mRNA cap.
LIMS1
LIM and senescent cell antigen-like-containing domain protein 1 (Particularly interesting new Cys-His protein 1) (PINCH-1) (Renal carcinoma antigen NY-REN-48) P48059 FUNCTION: Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation. SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
IGFL2
Insulin growth factor-like family member 2 Q6UWQ7 FUNCTION: Potential ligand of the IGFLR1 cell membrane receptor.
GSX2
GS homeobox 2 (Genetic-screened homeobox 2) (Homeobox protein GSH-2) Q9BZM3 FUNCTION: During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). Transcription factor that binds 5’-CNAATTAG-3’ DNA sequence.
INPP4B
Inositol polyphosphate 4-phosphatase type II (Type II inositol 3,4-bisphosphate 4-phosphatase) (EC 3.3.66) O15327 FUNCTION: Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-trisphosphate (, ). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles . The lipid phosphatase activity is critical for tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (, ).
IMPA1
Inositol monophosphatase 1 (IMP 1) (IMPase 1) (EC 3.3.25) (D-galactose 1-phosphate phosphatase) (EC 3.3.94) (Inositol-1(or 4)-monophosphatase 1) (Lithium-sensitive myo-inositol monophosphatase A1) P29218 FUNCTION: Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2’-AMP as substrates.
IGLV5-48
Probable non-functional immunoglobulin lambda variable 5-48 A0A075B6I7 FUNCTION: Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains . Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) . 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 (, ).
ITPRIPL1
Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 Q6GPH6 SUBCELLULAR LOCATION: Membrane .
IPPK
Inositol-pentakisphosphate 2-kinase (EC 2.1.158) (IPK1 homolog) (Inositol-1,3,4,5,6-pentakisphosphate 2-kinase) (Ins(1,3,4,5,6)P5 2-kinase) (InsP5 2-kinase) Q9H8X2 FUNCTION: Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.
NLRC4
NLR family CARD domain-containing protein 4 (CARD, LRR, and NACHT-containing protein) (Clan protein) (Caspase recruitment domain-containing protein 12) (Ice protease-activating factor) (Ipaf) Q9NPP4 FUNCTION: Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis . The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity). Note=Cytoplasmic filaments.
MYH13
Myosin-13 (Myosin heavy chain 13) (Myosin heavy chain, skeletal muscle, extraocular) (MyHC-EO) (Myosin heavy chain, skeletal muscle, laryngeal) (MyHC-IIL) (Superfast myosin) Q9UKX3 FUNCTION: Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles. SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
MYH9
Myosin-9 (Cellular myosin heavy chain, type A) (Myosin heavy chain 9) (Myosin heavy chain, non-muscle IIa) (Non-muscle myosin heavy chain A) (NMMHC-A) (Non-muscle myosin heavy chain IIa) (NMMHC II-a) (NMMHC-IIA) P35579 FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.
NT5DC4
5’-nucleotidase domain-containing protein 4 Q86YG4
PTPN3
Tyrosine-protein phosphatase non-receptor type 3 (EC 3.3.48) (Protein-tyrosine phosphatase H1) (PTP-H1) P26045 FUNCTION: May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity. SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.
TMEM258
Transmembrane protein 258 (Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit TMEM258) (Oligosaccharyl transferase subunit TMEM258) P61165 FUNCTION: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (, ). Involved in ER homeostasis in the colonic epithelium (By similarity).
TMEM262
Transmembrane protein 262 E9PQX1 SUBCELLULAR LOCATION: Membrane .
TENT5C
Terminal nucleotidyltransferase 5C (EC 2.7.19) (Non-canonical poly(A) polymerase FAM46C) Q5VWP2 FUNCTION: Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase which enhances mRNA stability and gene expression. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein and may be involved in induction of cell death.
TENT5D
Terminal nucleotidyltransferase 5D (EC 2.7.19) (Non-canonical poly(A) polymerase FAM46D) Q8NEK8 FUNCTION: Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase.
TMEM269
Transmembrane protein 269 A0A1B0GVZ9 SUBCELLULAR LOCATION: Membrane .
TMEM271
Transmembrane protein 271 A0A286YF58 SUBCELLULAR LOCATION: Membrane .
TMEM273
Transmembrane protein 273 Q5T292 SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
SNRPN
Small nuclear ribonucleoprotein-associated protein N (snRNP-N) (Sm protein D) (Sm-D) (Sm protein N) (Sm-N) (SmN) (Tissue-specific-splicing protein) P63162 FUNCTION: May be involved in tissue-specific alternative RNA processing events. SUBCELLULAR LOCATION: Nucleus.
TEX12
Testis-expressed protein 12 Q9BXU0
TMEM35B
Transmembrane protein 35B (ZMYM6 neighbor protein) Q8NCS4 SUBCELLULAR LOCATION: Membrane .
TMEM38A
Trimeric intracellular cation channel type A (TRIC-A) (TRICA) (Transmembrane protein 38A) Q9H6F2 FUNCTION: Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.
TEX19
Testis-expressed protein 19 Q8NA77 FUNCTION: Required during spermatogenesis and placenta development, participating in the repression of retrotransposable elements and prevent their mobilization. Collaborates with the Piwi-interacting RNA (piRNA) pathway, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins. Interacts with Piwi proteins and directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Also during spermatogenesis, promotes, with UBR2, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Interacts with LINE-1 retrotransposon encoded LIRE1, stimulates LIRE1 polyubiquitination, mediated by UBR2, and degradation, inhibiting LINE-1 retrotransposon mobilization .
TEX22
Testis-expressed protein 22 C9J3V5 SUBCELLULAR LOCATION: Cytoplasm .
TEX28; TEX28P1; TEX28P2
Testis-specific protein TEX28 O15482 SUBCELLULAR LOCATION: Membrane .
TEX29
Testis-expressed protein 29 Q8N6K0 SUBCELLULAR LOCATION: Membrane .
TMEM39A
Transmembrane protein 39A Q9NV64 SUBCELLULAR LOCATION: Membrane .
TEX2
Testis-expressed protein 2 (Transmembrane protein 96) Q8IWB9 SUBCELLULAR LOCATION: Membrane .
TOMM40L
Mitochondrial import receptor subunit TOM40B (Protein TOMM40-like) Q969M1 FUNCTION: Potential channel-forming protein implicated in import of protein precursors into mitochondria.
TEX43
Testis-expressed protein 43 Q6ZNM6
TEX54
Testis-expressed protein 54 A0A1B0GVG6
TEX9
Testis-expressed protein 9 Q8N6V9
TM6SF1
Transmembrane 6 superfamily member 1 Q9BZW5 FUNCTION: May function as sterol isomerase.
TM7SF3
Transmembrane 7 superfamily member 3 (Seven span transmembrane protein) Q9NS93 FUNCTION: Involved in the inhibition of cytokine-induced death of pancreatic beta cells. Involved in the promotion of insulin secretion from pancreatic beta cells . Is a downstream transcriptional target of p53/TP53, and acts as a pro-survival homeostatic factor that attenuates the development of cellular stress. Maintains protein homeostasis and promotes cell survival through attenuation of endoplasmic reticulum (ER) stress and the subsequent induction of unfolded protein response (UPR) .
TMEM86B
Lysoplasmalogenase (EC 3.2.2) (Transmembrane protein 86B) Q8N661 FUNCTION: Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties.
RSPH9
Radial spoke head protein 9 homolog Q9H1X1 FUNCTION: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.
NR5A1
Steroidogenic factor 1 (SF-1) (STF-1) (hSF-1) (Adrenal 4-binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP) Q13285 FUNCTION: Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues . Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5’-YCAAGGYC-3’ and 5’-RRAGGTCA-3’ are the consensus sequences for the recognition by NR5A1 . The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.
GTF2B
Transcription initiation factor IIB (EC 2.1.48) (General transcription factor TFIIB) (S300-II) Q00403 FUNCTION: General transcription factor that plays a role in transcription initiation by RNA polymerase II (Pol II). Involved in the pre-initiation complex (PIC) formation and Pol II recruitment at promoter DNA (, , , , , , , , , , , , ). Together with the TATA box-bound TBP forms the core initiation complex and provides a bridge between TBP and the Pol II-TFIIF complex (, , , , ). Released from the PIC early following the onset of transcription during the initiation and elongation transition and reassociates with TBP during the next transcription cycle . Associates with chromatin to core promoter-specific regions (, ). Binds to two distinct DNA core promoter consensus sequence elements in a TBP-independent manner; these IIB-recognition elements (BREs) are localized immediately upstream (BREu), 5’-[GC][GC][GA]CGCC-3’, and downstream (BREd), 5’-[GA]T[TGA][TG][GT][TG][TG]-3’, of the TATA box element (, , , ). Modulates transcription start site selection . Exhibits also autoacetyltransferase activity that contributes to the activated transcription .
TM9SF4
Transmembrane 9 superfamily member 4 (Tumor cannibalism associated protein 1) Q92544 FUNCTION: Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface . Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells . Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the pH regulation of the intracellular vesicles in tumor cells .
RSPO3
R-spondin-3 (Protein with TSP type-1 repeat) (hPWTSR) (Roof plate-specific spondin-3) (hRspo3) (Thrombospondin type-1 domain-containing protein 2) Q9BXY4 FUNCTION: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (, , ). Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signaling pathway in endothelial cells (By similarity) (, , ). Can also amplify Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3 .
TMC2
Transmembrane channel-like protein 2 (Transmembrane cochlear-expressed protein 2) Q8TDI7 FUNCTION: Probable ion channel required for the normal function of cochlear hair cells . Component of the hair cell’s mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity).
RSPO4
R-spondin-4 (Roof plate-specific spondin-4) (hRspo4) Q2I0M5 FUNCTION: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors . Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (, ).
TMC4
Transmembrane channel-like protein 4 Q7Z404 FUNCTION: Probable ion channel.
TMCO5A
Transmembrane and coiled-coil domain-containing protein 5A Q8N6Q1 SUBCELLULAR LOCATION: Membrane .
TMCO5B
Transmembrane and coiled-coil domain-containing protein 5B A8MYB1 SUBCELLULAR LOCATION: Membrane .
GTF2H5
General transcription factor IIH subunit 5 (General transcription factor IIH polypeptide 5) (TFB5 ortholog) (TFIIH basal transcription factor complex TTD-A subunit) Q6ZYL4 FUNCTION: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.
TMC6
Transmembrane channel-like protein 6 (Epidermodysplasia verruciformis protein 1) (Protein LAK-4) Q7Z403 FUNCTION: Probable ion channel.
RSRC1
Serine/Arginine-related protein 53 (SRrp53) (Arginine/serine-rich coiled-coil protein 1) Q96IZ7 FUNCTION: Has a role in alternative splicing and transcription regulation . Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3’ splice site during the second step of splicing.
GTF3C1
General transcription factor 3C polypeptide 1 (TF3C-alpha) (TFIIIC box B-binding subunit) (Transcription factor IIIC 220 kDa subunit) (TFIIIC 220 kDa subunit) (TFIIIC220) (Transcription factor IIIC subunit alpha) Q12789 FUNCTION: Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element. SUBCELLULAR LOCATION: Nucleus.
RSRC2
Arginine/serine-rich coiled-coil protein 2 Q7L4I2
RSRP1
Arginine/serine-rich protein 1 Q9BUV0
TFAP4
Transcription factor AP-4 (Activating enhancer-binding protein 4) (Class C basic helix-loop-helix protein 41) (bHLHc41) Q01664 FUNCTION: Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5’-CAGCTG-3’. SUBCELLULAR LOCATION: Nucleus.
TMCC3
Transmembrane and coiled-coil domain protein 3 Q9ULS5 SUBCELLULAR LOCATION: Endoplasmic reticulum membrane .
TMCO6
Transmembrane and coiled-coil domain-containing protein 6 Q96DC7 SUBCELLULAR LOCATION: Membrane .
TMED5
Transmembrane emp24 domain-containing protein 5 (p24 family protein gamma-2) (p24gamma2) (p28) Q9Y3A6 FUNCTION: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport. Note=Probably cycles between compartments of the early secretatory pathway.
TMED7
Transmembrane emp24 domain-containing protein 7 (p24 family protein gamma-3) (p24gamma3) (p27) Q9Y3B3 FUNCTION: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, COPI-coated vesicle membrane . Note=Cycles between compartments of the early secretatory pathway.
TMED10
Transmembrane emp24 domain-containing protein 10 (21 kDa transmembrane-trafficking protein) (S31III125) (S31I125) (Tmp-21-I) (Transmembrane protein Tmp21) (p23) (p24 family protein delta-1) (p24delta1) (p24delta) P49755 FUNCTION: Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER. Recognizes GPI anchors structural remodeled in the ER by PGAP1 and MPPE1 (By similarity). In COPI vesicle-mediated retrograde transport involved in the biogenesis of COPI vesicles and vesicle coat recruitment. On Golgi membranes, acts as primary receptor for ARF1-GDP which is involved in COPI-vesicle formation. Increases coatomer-dependent GTPase-activating activity of ARFGAP2. Involved in trafficking of G protein-coupled receptors (GPCRs). Regulates F2LR1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to the plasma membrane thus contributing to receptor resensitization. Involved in trafficking of amyloid beta A4 protein and soluble APP-beta release (independent of modulation of gamma-secretase activity). As part of the presenilin-dependent gamma-secretase complex regulates gamma-cleavages of the amyloid beta A4 protein to yield amyloid-beta 40 (Abeta40). Involved in organization of the Golgi apparatus. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Cycles between compartments of the early secretatory pathway.
ACAT1
Acetyl-CoA acetyltransferase, mitochondrial (EC 2.1.9) (Acetoacetyl-CoA thiolase) (T2) P24752 FUNCTION: This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (, , ). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (, , ). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA . Thereby, it plays a major role in ketone body metabolism (, , , ).
PRRG2
Transmembrane gamma-carboxyglutamic acid protein 2 (Proline-rich gamma-carboxyglutamic acid protein 2) (Proline-rich Gla protein 2) O14669 SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
PRRG4
Transmembrane gamma-carboxyglutamic acid protein 4 (Proline-rich gamma-carboxyglutamic acid protein 4) (Proline-rich Gla protein 4) Q9BZD6 FUNCTION: May control axon guidance across the CNS . Prevents the delivery of ROBO1 at the cell surface and downregulates its expression .
TMIGD1
Transmembrane and immunoglobulin domain-containing protein 1 Q6UXZ0 FUNCTION: May control cell-cell adhesion, cell migration and proliferation, cell morphology, and protects renal epithelial cells from oxidative cell injury to promote cell survival.
TMIGD2
Transmembrane and immunoglobulin domain-containing protein 2 (CD28 homolog) (Immunoglobulin and proline-rich receptor 1) (IGPR-1) Q96BF3 FUNCTION: Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.
TMIGD3
Transmembrane domain-containing protein TMIGD3 P0DMS9 FUNCTION: [Isoform 1]: Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity .
TMEM11
Transmembrane protein 11, mitochondrial (Protein PM1) (Protein PMI) P17152 FUNCTION: Plays a role in mitochondrial morphogenesis.
TMEM17
Transmembrane protein 17 Q86X19 FUNCTION: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
TMEM18
Transmembrane protein 18 Q96B42 FUNCTION: Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC).
TMEM26
Transmembrane protein 26 Q6ZUK4 SUBCELLULAR LOCATION: Membrane .
TMEM40
Transmembrane protein 40 Q8WWA1 SUBCELLULAR LOCATION: Membrane .
SYCE1L
Synaptonemal complex central element protein 1-like (Meiosis-related protein) A8MT33 FUNCTION: May be involved in meiosis.
TMEM44
Transmembrane protein 44 Q2T9K0 SUBCELLULAR LOCATION: Membrane .
TMEM52
Transmembrane protein 52 Q8NDY8 SUBCELLULAR LOCATION: Membrane .
TMEM60
Transmembrane protein 60 Q9H2L4 SUBCELLULAR LOCATION: Membrane .
TMEM61
Transmembrane protein 61 Q8N0U2 SUBCELLULAR LOCATION: Membrane .
TMEM65
Transmembrane protein 65 Q6PI78 FUNCTION: May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance .
TMEM74
Transmembrane protein 74 Q96NL1 FUNCTION: Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction.
TMEM79
Transmembrane protein 79 (Mattrin) Q9BSE2 FUNCTION: Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity).
TMEM81
Transmembrane protein 81 Q6P7N7 SUBCELLULAR LOCATION: Membrane .
TMEM82
Transmembrane protein 82 A0PJX8 SUBCELLULAR LOCATION: Membrane .
TMEM89
Transmembrane protein 89 A2RUT3 SUBCELLULAR LOCATION: Membrane .
TMPRSS4
Transmembrane protease serine 4 (EC 3.21.-) (Channel-activating protease 2) (CAPH2) (Membrane-type serine protease 2) (MT-SP2) Q9NRS4 FUNCTION: Probable protease. Seems to be capable of activating ENaC (By similarity).
TMPRSS5
Transmembrane protease serine 5 (EC 3.21.-) (Spinesin) Q9H3S3 FUNCTION: May play a role in hearing.
SYCP1
Synaptonemal complex protein 1 (SCP-1) (Cancer/testis antigen 8) (CT8) Q15431 FUNCTION: Major component of the transverse filaments of synaptonemal complexes, formed between homologous chromosomes during meiotic prophase. Required for normal assembly of the central element of the synaptonemal complexes. Required for normal centromere pairing during meiosis. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility.
TATDN1
Putative deoxyribonuclease TATDN1 (EC 3.21.-) (Hepatocarcinoma high expression protein) Q6P1N9 FUNCTION: Putative deoxyribonuclease.
TATDN2
Putative deoxyribonuclease TATDN2 (EC 3.21.-) Q93075 FUNCTION: Putative deoxyribonuclease.
RSU1
Ras suppressor protein 1 (RSP-1) (Rsu-1) Q15404 FUNCTION: Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro.
ERVW-1
Syncytin-1 (Endogenous retrovirus group W member 1) (Env-W) (Envelope polyprotein gPr73) (Enverin) (HERV-7q Envelope protein) (HERV-W envelope protein) (HERV-W_7q21.2 provirus ancestral Env polyprotein) (Syncytin) [Cleaved into: Surface protein (SU) (gp50); Transmembrane protein (TM) (gp24)] Q9UQF0 FUNCTION: This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 (, , ).
TRPM2
Transient receptor potential cation channel subfamily M member 2 (Estrogen-responsive element-associated gene 1 protein) (Long transient receptor potential channel 2) (LTrpC-2) (LTrpC2) (Transient receptor potential channel 7) (TrpC7) (Transient receptor potential melastatin 2) O94759 FUNCTION: [Isoform 1]: Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (, , , , , , , , , , , , , , ). Functions as ligand-gated ion channel (, , , ). Binding of ADP-ribose to the cytoplasmic Nudix domain causes a conformation change; the channel is primed but still requires Ca(2+) binding to trigger channel opening (, , , , ). Extracellular calcium passes through the channel and increases channel activity . Contributes to Ca(2+) release from intracellular stores in response to ADP-ribose . Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (, ). Activated by moderate heat (35 to 40 degrees Celsius) . Activated by intracellular ADP-ribose, beta-NAD (NAD(+)) and similar compounds, and by oxidative stress caused by reactive oxygen or nitrogen species (, , , , , , , , , , ). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2’-phosphate (, ). Activation by ADP-ribose and beta-NAD is strongly increased by moderate heat (35 to 40 degrees Celsius) . Likewise, reactive oxygen species lower the threshold for activation by moderate heat (37 degrees Celsius) . Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels . Confers susceptibility to cell death following oxidative stress (, ).
TRPM4
Transient receptor potential cation channel subfamily M member 4 (hTRPM4) (Calcium-activated non-selective cation channel 1) (Long transient receptor potential channel 4) (LTrpC-4) (LTrpC4) (Melastatin-4) Q8TD43 FUNCTION: Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (, ). While it is activated by increase in intracellular Ca(2+), it is impermeable to it . Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. Endoplasmic reticulum. Golgi apparatus.
TMUB1
Transmembrane and ubiquitin-like domain-containing protein 1 (Dendritic cell-derived ubiquitin-like protein) (DULP) (Hepatocyte odd protein shuttling protein) (Ubiquitin-like protein SB144) [Cleaved into: iHOPS] Q9BVT8 FUNCTION: Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR . Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).
TMX3
Protein disulfide-isomerase TMX3 (EC 5.4.1) (Thioredoxin domain-containing protein 10) (Thioredoxin-related transmembrane protein 3) Q96JJ7 FUNCTION: Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.
TMX4
Thioredoxin-related transmembrane protein 4 (Thioredoxin domain-containing protein 13) Q9H1E5 SUBCELLULAR LOCATION: Nucleus inner membrane .
TNFSF13B
Tumor necrosis factor ligand superfamily member 13B (B lymphocyte stimulator) (BLyS) (B-cell-activating factor) (BAFF) (Dendritic cell-derived TNF-like molecule) (TNF- and APOL-related leukocyte expressed ligand 1) (TALL-1) (CD antigen CD257) [Cleaved into: Tumor necrosis factor ligand superfamily member 13b, membrane form; Tumor necrosis factor ligand superfamily member 13b, soluble form] Q9Y275 FUNCTION: Cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA. TNFSF13/APRIL binds to the same 2 receptors. Together, they form a 2 ligands -2 receptors pathway involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. A third B-cell specific BAFF-receptor (BAFFR/BR3) promotes the survival of mature B-cells and the B-cell response. SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: [Tumor necrosis factor ligand superfamily member 13b, soluble form]: Secreted.
TRPM6
Transient receptor potential cation channel subfamily M member 6 (EC 2.11.1) (Channel kinase 2) (Melastatin-related TRP cation channel 6) Q9BX84 FUNCTION: Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region. SUBCELLULAR LOCATION: Cell membrane ; Multi-pass membrane protein.
TNFAIP2
Tumor necrosis factor alpha-induced protein 2 (TNF alpha-induced protein 2) (Primary response gene B94 protein) Q03169 FUNCTION: May play a role as a mediator of inflammation and angiogenesis.
TNFAIP3
Tumor necrosis factor alpha-induced protein 3 (TNF alpha-induced protein 3) (EC 2.2.-) (EC 3.19.12) (OTU domain-containing protein 7C) (Putative DNA-binding protein A20) (Zinc finger protein A20) [Cleaved into: A20p50; A20p37] P21580 FUNCTION: Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates ‘Lys-63’-polyubiquitin chains on RIPK1 and catalyzes the formation of ‘Lys-48’-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquitinates TRAF6 probably acting on ‘Lys-63’-linked polyubiquitin. Upon T-cell receptor (TCR)-mediated T-cell activation, deubiquitinates ‘Lys-63’-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate ‘Lys-11’-, ‘Lys-48’- and ‘Lys-63’ polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Required for LPS-induced production of proinflammatory cytokines and IFN beta in LPS-tolerized macrophages. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Lysosome.; SUBCELLULAR LOCATION: [A20p50]: Cytoplasm.
TNRC18
Trinucleotide repeat-containing gene 18 protein (Long CAG trinucleotide repeat-containing gene 79 protein) O15417
TNFSF10
Tumor necrosis factor ligand superfamily member 10 (Apo-2 ligand) (Apo-2L) (TNF-related apoptosis-inducing ligand) (Protein TRAIL) (CD antigen CD253) P50591 FUNCTION: Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG (, ). Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis.
STK19
Serine/threonine-protein kinase 19 (EC 2.11.1) (Protein G11) (Protein RP1) P49842 FUNCTION: Serine/threonine-protein kinase that acts as a key regulator of NRAS signaling by mediating phosphorylation of NRAS at ‘Ser-89’, thereby enhancing NRAS-binding to its downstream effectors.
STK25
Serine/threonine-protein kinase 25 (EC 2.11.1) (Ste20-like kinase) (Sterile 20/oxidant stress-response kinase 1) (SOK-1) (Ste20/oxidant stress response kinase 1) O00506 FUNCTION: Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration. Note=Localizes to the Golgi apparatus.
STK31
Serine/threonine-protein kinase 31 (EC 2.11.1) (Serine/threonine-protein kinase NYD-SPK) (Sugen kinase 396) (SgK396) Q9BXU1
TRPV3
Transient receptor potential cation channel subfamily V member 3 (TrpV3) (Vanilloid receptor-like 3) (VRL-3) Q8NET8 FUNCTION: Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
MYO7A
Unconventional myosin-VIIa Q13402 FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
SLC16A14
Monocarboxylate transporter 14 (MCT 14) (Solute carrier family 16 member 14) Q7RTX9 FUNCTION: Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane.
MYO1G
Unconventional myosin-Ig [Cleaved into: Minor histocompatibility antigen HA-2 (mHag HA-2)] B0I1T2 FUNCTION: Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B-cells, where it regulates different membrane/cytoskeleton-dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis.
PLCZ1
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 (EC 3.4.11) (Phosphoinositide phospholipase C-zeta-1) (Phospholipase C-zeta-1) (PLC-zeta-1) (Testis-development protein NYD-SP27) Q86YW0 FUNCTION: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function.
RASSF3
Ras association domain-containing protein 3 Q86WH2 SUBCELLULAR LOCATION: Cytoplasm . Note=Localized to microtubules in vascular endothelial cells.
PRXL2A
Peroxiredoxin-like 2A (Peroxiredoxin-like 2 activated in M-CSF stimulated monocytes) (Protein PAMM) (Redox-regulatory protein FAM213A) Q9BRX8 FUNCTION: Involved in redox regulation of the cell (, ). Acts as an antioxidant (, ). Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation . May affect bone resorption and help to maintain bone mass . Acts as a negative regulator of macrophage-mediated inflammation by inhibiting macrophage production of inflammatory cytokines, probably through suppression of the MAPK signaling pathway .
RFC1
Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C large subunit) P35251 FUNCTION: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA. SUBCELLULAR LOCATION: Nucleus.
CAD
CAD protein [Includes: Glutamine-dependent carbamoyl-phosphate synthase (EC 6.5.5); Aspartate carbamoyltransferase (EC 2.3.2); Dihydroorotase (EC 3.2.3)] P27708 FUNCTION: This protein is a ‘fusion’ protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase). Note=Cytosolic and unphosphorylated in resting cells, translocates to the nucleus in response to EGF stimulation, nuclear import promotes optimal cell growth.
REEP6
Receptor expression-enhancing protein 6 (Polyposis locus protein 1-like 1) Q96HR9 FUNCTION: Required for correct function and survival of retinal photoreceptors . Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).
RFX3
Transcription factor RFX3 (Regulatory factor X 3) P48380 FUNCTION: Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes . Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells .
REELD1
Reelin domain-containing protein 1 A0A1B0GV85 SUBCELLULAR LOCATION: Membrane .
REPS1
RalBP1-associated Eps domain-containing protein 1 (RalBP1-interacting protein 1) Q96D71 FUNCTION: May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. Note=Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.
RAB22A
Ras-related protein Rab-22A (Rab-22) Q9UL26 FUNCTION: Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes . Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth . Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form .
RAB33A
Ras-related protein Rab-33A (Small GTP-binding protein S10) Q14088 SUBCELLULAR LOCATION: Cell membrane .
RAB3GAP1
Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kDa subunit) (Rab3-GAP p130) (Rab3-GAP) Q15042 FUNCTION: Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. Note=In neurons, it is enriched in the synaptic soluble fraction.
RBAK
RB-associated KRAB zinc finger protein (RB-associated KRAB repressor) (hRBaK) (Zinc finger protein 769) Q9NYW8 FUNCTION: May repress E2F-dependent transcription. May promote AR-dependent transcription.
RAB3GAP2
Rab3 GTPase-activating protein non-catalytic subunit (RGAP-iso) (Rab3 GTPase-activating protein 150 kDa subunit) (Rab3-GAP p150) (Rab3-GAP150) (Rab3-GAP regulatory subunit) Q9H2M9 FUNCTION: Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. SUBCELLULAR LOCATION: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
SLC49A3
Solute carrier family 49 member A3 (Major facilitator superfamily domain-containing protein 7) (Myosin light polypeptide 5 regulatory protein) (MYL5) Q6UXD7 SUBCELLULAR LOCATION: Membrane .
SYMPK
Symplekin Q92797 FUNCTION: Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3’-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity.
TBX5
T-box transcription factor TBX5 (T-box protein 5) Q99593 FUNCTION: DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (, , , , , ). Binds to the core DNA motif of NPPA promoter .
SIRPG
Signal-regulatory protein gamma (SIRP-gamma) (CD172 antigen-like family member B) (Signal-regulatory protein beta-2) (SIRP-b2) (SIRP-beta-2) (CD antigen CD172g) Q9P1W8 FUNCTION: Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation.
SRPRB
Signal recognition particle receptor subunit beta (SR-beta) (Protein APMCF1) Q9Y5M8 FUNCTION: Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity).
SLC6A14
Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (Amino acid transporter ATB0+) (Solute carrier family 6 member 14) Q9UN76 FUNCTION: Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
SIRT7
NAD-dependent protein deacetylase sirtuin-7 (EC 2.1.286) (NAD-dependent protein deacylase sirtuin-7) (EC 2.1.-) (Regulatory protein SIR2 homolog 7) (SIR2-like protein 7) Q9NRC8 FUNCTION: NAD-dependent protein-lysine deacylase that can act both as a deacetylase or deacylase (desuccinylase, depropionylase and deglutarylase), depending on the context (, , , ). Specifically mediates deacetylation of histone H3 at ‘Lys-18’ (H3K18Ac) (, ). In contrast to other histone deacetylases, displays strong preference for a specific histone mark, H3K18Ac, directly linked to control of gene expression (, ). H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors; SIRT7 thereby acts as a transcription repressor . Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems to maintain the transformed phenotype of cancer cells . Also able to mediate deacetylation of histone H3 at ‘Lys-36’ (H3K36Ac) in the context of nucleosomes . Also mediates deacetylation of non-histone proteins, such as ATM, CDK9, DDX21, DDB1, FBL, FKBP5/FKBP51, GABPB1, RAN, RRP9/U3-55K and POLR1E/PAF53 (, , , , , , , , ). Enriched in nucleolus where it stimulates transcription activity of the RNA polymerase I complex (, , ). Acts by mediating the deacetylation of the RNA polymerase I subunit POLR1E/PAF53, thereby promoting the association of RNA polymerase I with the rDNA promoter region and coding region (, , ). In response to metabolic stress, SIRT7 is released from nucleoli leading to hyperacetylation of POLR1E/PAF53 and decreased RNA polymerase I transcription . Required to restore the transcription of ribosomal RNA (rRNA) at the exit from mitosis . Promotes pre-ribosomal RNA (pre-rRNA) cleavage at the 5’-terminal processing site by mediating deacetylation of RRP9/U3-55K, a core subunit of the U3 snoRNP complex . Mediates ‘Lys-37’ deacetylation of Ran, thereby regulating the nuclear export of NF-kappa-B subunit RELA/p65 . Acts as a regulator of DNA damage repair by mediating deacetylation of ATM during the late stages of DNA damage response, promoting ATM dephosphorylation and deactivation . Suppresses the activity of the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes by mediating deacetylation of DDB1, which prevents the interaction between DDB1 and CUL4 (CUL4A or CUL4B) . Activates RNA polymerase II transcription by mediating deacetylation of CDK9, thereby promoting ‘Ser-2’ phosphorylation of the C-terminal domain (CTD) of RNA polymerase II . Deacetylates FBL, promoting histone-glutamine methyltransferase activity of FBL . Acts as a regulator of mitochondrial function by catalyzing deacetylation of GABPB1 (By similarity). Regulates Akt/AKT1 activity by mediating deacetylation of FKBP5/FKBP51 . Required to prevent R-loop-associated DNA damage and transcription-associated genomic instability by mediating deacetylation and subsequent activation of DDX21, thereby overcoming R-loop-mediated stalling of RNA polymerases . In addition to protein deacetylase activity, also acts as protein-lysine deacylase (, , ). Acts as a protein depropionylase by mediating depropionylation of Osterix (SP7), thereby regulating bone formation by osteoblasts (By similarity). Acts as a histone deglutarylase by mediating deglutarylation of histone H4 on ‘Lys-91’ (H4K91glu); a mark that destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes . Acts as a histone desuccinylase: in response to DNA damage, recruited to DNA double-strand breaks (DSBs) and catalyzes desuccinylation of histone H3 on ‘Lys-122’ (H3K122succ), thereby promoting chromatin condensation and DSB repair . Also promotes DSB repair by promoting H3K18Ac deacetylation, regulating non-homologous end joining (NHEJ) (By similarity). Along with its role in DNA repair, required for chromosome synapsis during prophase I of female meiosis by catalyzing H3K18Ac deacetylation (By similarity). Involved in transcriptional repression of LINE-1 retrotransposon via H3K18Ac deacetylation, and promotes their association with the nuclear lamina . Required to stabilize ribosomal DNA (rDNA) heterochromatin and prevent cellular senescence induced by rDNA instability . Acts as a negative regulator of SIRT1 by preventing autodeacetylation of SIRT1, restricting SIRT1 deacetylase activity (By similarity).
TBX6
T-box transcription factor TBX6 (T-box protein 6) O95947 FUNCTION: T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).
TIMM44
Mitochondrial import inner membrane translocase subunit TIM44 O43615 FUNCTION: Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source.
SGK2
Serine/threonine-protein kinase Sgk2 (EC 2.11.1) (Serum/glucocorticoid-regulated kinase 2) Q9HBY8 FUNCTION: Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up-regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase.
SPACA9
Sperm acrosome-associated protein 9 Q96E40 SUBCELLULAR LOCATION: Cytoplasm .
TOMM20
Mitochondrial import receptor subunit TOM20 homolog (Mitochondrial 20 kDa outer membrane protein) (Outer mitochondrial membrane receptor Tom20) Q15388 FUNCTION: Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases.
KNSTRN
Small kinetochore-associated protein (SKAP) (Kinetochore-localized astrin-binding protein) (Kinastrin) (Kinetochore-localized astrin/SPAG5-binding protein) (TRAF4-associated factor 1) Q9Y448 FUNCTION: Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase . Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (, ). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments . Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division . May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences .
TOMM7
Mitochondrial import receptor subunit TOM7 homolog (Translocase of outer membrane 7 kDa subunit homolog) Q9P0U1 FUNCTION: Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria.
SSBP2
Single-stranded DNA-binding protein 2 (Sequence-specific single-stranded-DNA-binding protein 2) P81877 SUBCELLULAR LOCATION: Nucleus .
SH2D5
SH2 domain-containing protein 5 Q6ZV89 FUNCTION: May be involved in synaptic plasticity regulation through the control of Rac-GTP levels.
SYN1
Synapsin-1 (Brain protein 4.1) (Synapsin I) P17600 FUNCTION: Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level. SUBCELLULAR LOCATION: Cell junction, synapse. Golgi apparatus .
SSNA1
Sjoegren syndrome nuclear autoantigen 1 (Nuclear autoantigen of 14 kDa) O43805 SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
SAP18
Histone deacetylase complex subunit SAP18 (18 kDa Sin3-associated polypeptide) (2HOR0202) (Cell growth-inhibiting gene 38 protein) (Sin3-associated polypeptide p18) O00422 FUNCTION: Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function.
GHRH
Somatoliberin (Growth hormone-releasing factor) (GRF) (Growth hormone-releasing hormone) (GHRH) (Somatocrinin) (Somatorelin) (Sermorelin) P01286 FUNCTION: GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone. SUBCELLULAR LOCATION: Secreted.
SHPRH
E3 ubiquitin-protein ligase SHPRH (EC 2.2.27) (EC 3.4.-) (RING-type E3 ubiquitin transferase SHPRH) (SNF2, histone-linker, PHD and RING finger domain-containing helicase) Q149N8 FUNCTION: E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to ‘Lys-164’ of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly-ubiquitin chains linked through ‘Lys-63’.
SLC9C2
Sodium/hydrogen exchanger 11 (Na(+)/H(+) exchanger 11) (NHE-11) (Solute carrier family 9 member 11) (Solute carrier family 9 member C2) Q5TAH2 FUNCTION: Involved in pH regulation. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
