Human Genes Group 1 Flashcards
NTM-AS1
Putative uncharacterized protein NTM-AS1 (NTM antisense RNA 1) (NTM antisense gene protein 1) Q6ZSK4
PLAA
Phospholipase A-2-activating protein (PLA2P) (PLAP) Q9Y263
FUNCTION: Plays a role in protein ubiquitination, sorting and degradation through its association with VCP . Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes . Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis.
NACC1
Nucleus accumbens-associated protein 1 (NAC-1) (BTB/POZ domain-containing protein 14B) Q96RE7 FUNCTION: Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.
MTSS1
Protein MTSS 1 (Metastasis suppressor YGL-1) (Metastasis suppressor protein 1) (Missing in metastasis protein) O43312 FUNCTION: May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
PNPLA8
Calcium-independent phospholipase A2-gamma (EC 3.1.5) (Intracellular membrane-associated calcium-independent phospholipase A2 gamma) (iPLA2-gamma) (PNPLA-gamma) (Patatin-like phospholipase domain-containing protein 8) (iPLA2-2) Q9NP80 FUNCTION: Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.
POU4F3
POU domain, class 4, transcription factor 3 (Brain-specific homeobox/POU domain protein 3C) (Brain-3C) (Brn-3C) Q15319 FUNCTION: Acts as a transcriptional activator . Acts by binding to sequences related to the consensus octamer motif 5’-ATGCAAAT-3’ in the regulatory regions of its target genes . Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity).
RHOC
Rho-related GTP-binding protein RhoC (Rho cDNA clone 9) (h9) P08134 FUNCTION: Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells. Note=Translocates to the equatorial region before furrow formation in a ECT2-dependent manner.
RRAGB
Ras-related GTP-binding protein B (Rag B) (RagB) Q5VZM2 FUNCTION: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway.
POLR1D
Protein POLR1D, isoform 2 P0DPB5
POLR3GL
DNA-directed RNA polymerase III subunit RPC7-like (RNA polymerase III subunit C7-like) (DNA-directed RNA polymerase III subunit G-like) (RNA polymerase III 32 kDa beta subunit) (RPC32-beta) Q9BT43 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.
RAB28
Ras-related protein Rab-28 P51157 SUBCELLULAR LOCATION: Cell membrane .
RAB4A
Ras-related protein Rab-4A P20338 FUNCTION: Protein transport. Plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling.
RAB5B
Ras-related protein Rab-5B P61020 FUNCTION: Protein transport. Probably involved in vesicular traffic (By similarity). Note=Enriched in stage I melanosomes.
RIOK1
Serine/threonine-protein kinase RIO1 (EC 2.11.1) (EC 3.3.-) (RIO kinase 1) Q9BRS2 FUNCTION: Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor . The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation .
RNASEL
2-5A-dependent ribonuclease (2-5A-dependent RNase) (EC 3.26.-) (Ribonuclease 4) (Ribonuclease L) (RNase L) Q05823 FUNCTION: Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis . Might play a central role in the regulation of mRNA turnover . Cleaves 3’ of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length.
RAB7A
Ras-related protein Rab-7a P51149 FUNCTION: Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e. Salmonella) and sometimes by excluding RAB7A function (e. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (, , , , ). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan .
RAB29
Ras-related protein Rab-7L1 (Rab-7-like protein 1) (Ras-related protein Rab-29) O14966 FUNCTION: The small GTPases Rab are key regulators in vesicle trafficking . Essential for maintaining the integrity of the endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner . Recruits LRRK2 to the Golgi complex and stimulates LRRK2 kinase activity . Regulates neuronal process morphology in the intact central nervous system (CNS) (By similarity). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.Typhi) epithelial cell infection .
RALBP1
RalA-binding protein 1 (RalBP1) (76 kDa Ral-interacting protein) (Dinitrophenyl S-glutathione ATPase) (DNP-SG ATPase) (Ral-interacting protein 1) Q15311 FUNCTION: Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin.
PTRHD1
Putative peptidyl-tRNA hydrolase PTRHD1 (EC 3.1.29) (Peptidyl-tRNA hydrolase domain-containing protein 1) Q6GMV3
SLURP2
Secreted Ly-6/uPAR domain-containing protein 2 (Secreted LY6/PLAUR domain-containing protein 2) (Secreted Ly-6/uPAR-related protein 2) (SLURP-2) P0DP57 FUNCTION: Binds and may modulate the functional properties of nicotinic and muscarinic acetylcholine receptors. May regulate keratinocytes proliferation, differentiation and apoptosis. In vitro moderately inhibits ACh-evoked currents of alpha-3:beta-2-containing nAChRs and strongly these of alpha-4:beta-2-containing nAChRs, modulates alpha-7-containing nAChRs, and inhibits nicotine-induced signaling probably implicating alpha-3:beta-4-containing nAChRs. Proposed to act on alpha-3:beta-2 and alpha-7 nAChRs in an orthosteric, and on mAChRs, such as CHRM1 and CHRM3, in an allosteric manner.
TAC4
Tachykinin-4 (Preprotachykinin-C) (PPT-C) [Cleaved into: Endokinin-A (EKA); Endokinin-A/B (EKA/B); Endokinin-C (EKC)] Q86UU9 FUNCTION: Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin-C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility.
TCEANC2
Transcription elongation factor A N-terminal and central domain-containing protein 2 Q96MN5 SUBCELLULAR LOCATION: Nucleus .
TLR8
Toll-like receptor 8 (CD antigen CD288) Q9NR97 FUNCTION: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.
TECTA
Alpha-tectorin O75443 FUNCTION: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.
TRMT10A
tRNA methyltransferase 10 homolog A (EC 2.1.221) (RNA (guanine-9-)-methyltransferase domain-containing protein 2) (tRNA (guanine(9)-N(1))-methyltransferase TRMT10A) Q8TBZ6 FUNCTION: S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (, ). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs .
TMEM101
Transmembrane protein 101 (Putative NF-kappa-B-activating protein 130) Q96IK0 FUNCTION: May activate NF-kappa-B signaling pathways.
TMPRSS11F
Transmembrane protease serine 11F (EC 3.21.-) (Airway trypsin-like protease 4) Q6ZWK6 FUNCTION: Probable serine protease.
UBQLNL
Ubiquilin-like protein Q8IYU4
USP40
Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.19.12) (Deubiquitinating enzyme 40) (Ubiquitin thioesterase 40) (Ubiquitin-specific-processing protease 40) Q9NVE5 FUNCTION: May be catalytically inactive.
TXNDC8
Thioredoxin domain-containing protein 8 (Spermatid-specific thioredoxin-3) (Sptrx-3) (Thioredoxin-6) Q6A555 FUNCTION: May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm. SUBCELLULAR LOCATION: Cytoplasm .
URB2
Unhealthy ribosome biogenesis protein 2 homolog Q14146 SUBCELLULAR LOCATION: Nucleus, nucleolus .
ZBTB45
Zinc finger and BTB domain-containing protein 45 (Zinc finger protein 499) Q96K62 FUNCTION: May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity).
UQCC2
Ubiquinol-cytochrome-c reductase complex assembly factor 2 (Breast cancer-associated protein SGA-81M) (Mitochondrial nucleoid factor 1) (Mitochondrial protein M19) Q9BRT2 FUNCTION: Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.
ZHX1
Zinc fingers and homeoboxes protein 1 Q9UKY1 FUNCTION: Acts as a transcriptional repressor. Increases DNMT3B-mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins. Note=Colocalized in the nucleus with DNMT3B.
ZKSCAN5
Zinc finger protein with KRAB and SCAN domains 5 (Zinc finger protein 95 homolog) (Zfp-95) Q9Y2L8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WDR61
WD repeat-containing protein 61 (Meiotic recombination REC14 protein homolog) (SKI8 homolog) (Ski8) [Cleaved into: WD repeat-containing protein 61, N-terminally processed] Q9GZS3 FUNCTION: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and ‘Ser-2’- and ‘Ser-5’-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 ‘Lys-4’ (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of ‘Lys-120’ of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3’ end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Required for mono- and trimethylation on histone H3 ‘Lys-4’ (H3K4me3), dimethylation on histone H3 ‘Lys-79’ (H3K4me3). Required for Hox gene transcription. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1C.
ZNF180
Zinc finger protein 180 (HHZ168) Q9UJW8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF674
Zinc finger protein 674 Q2M3X9 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF317
Zinc finger protein 317 Q96PQ6 FUNCTION: May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation. SUBCELLULAR LOCATION: Nucleus .
ZNF337
Zinc finger protein 337 Q9Y3M9 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF738
Protein ZNF738 Q8NE65 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF814
Zinc finger protein 814 B7Z6K7
ZNF345
Zinc finger protein 345 (Zinc finger protein HZF10) Q14585 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF331
Zinc finger protein 331 (C2H2-like zinc finger protein rearranged in thyroid adenomas) (Zinc finger protein 361) (Zinc finger protein 463) Q9NQX6 FUNCTION: May be involved in transcriptional regulation. May play a role in spermatogenesis. SUBCELLULAR LOCATION: Nucleus .
ZNF3
Zinc finger protein 3 (Zinc finger protein HF.12) (Zinc finger protein HZF3.1) (Zinc finger protein KOX25) P17036 FUNCTION: Involved in cell differentiation and/or proliferation. SUBCELLULAR LOCATION: Nucleus .
THBS4
Thrombospondin-4 P35443 FUNCTION: Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors and protects myocardium from pressure overload. May contribute to spinal presynaptic hypersensitivity and neuropathic pain states after peripheral nerve injury. May play a role in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury in a NOTCH1-dependent manner (By similarity).
WIZ
Protein Wiz (Widely-interspaced zinc finger-containing protein) (Zinc finger protein 803) O95785 FUNCTION: May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity).
TSPAN12
Tetraspanin-12 (Tspan-12) (Tetraspan NET-2) (Transmembrane 4 superfamily member 12) O95859 FUNCTION: Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity.
ZNF641
Zinc finger protein 641 Q96N77 FUNCTION: Transcriptional activator. Activates transcriptional activities of SRE and AP-1.
THBS2
Thrombospondin-2 P35442 FUNCTION: Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties.
ZNF662
Zinc finger protein 662 Q6ZS27 FUNCTION: May be involved in transcriptional regulation.
ZNF668
Zinc finger protein 668 Q96K58 FUNCTION: May be involved in transcriptional regulation.
ZNF20
Zinc finger protein 20 (Zinc finger protein KOX13) P17024 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZXDA
Zinc finger X-linked protein ZXDA P98168 FUNCTION: Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes.
MON2
Protein MON2 homolog (Protein SF21) Q7Z3U7 FUNCTION: May be required for traffic between late Golgi and early endosomes.
POMGNT2
Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 (POMGnT2) (EC 2.1.312) (Extracellular O-linked N-acetylglucosamine transferase-like) (Glycosyltransferase-like domain-containing protein 2) Q8NAT1 FUNCTION: O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.
RABGAP1
Rab GTPase-activating protein 1 (GAP and centrosome-associated protein) (Rab6 GTPase-activating protein GAPCenA) Q9Y3P9 FUNCTION: May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.
TOP3A
DNA topoisomerase 3-alpha (EC 5.2.1) (DNA topoisomerase III alpha) Q13472 FUNCTION: Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5’-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3’-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3’-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity . It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 .
PTPN18
Tyrosine-protein phosphatase non-receptor type 18 (EC 3.3.48) (Brain-derived phosphatase) Q99952 FUNCTION: Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. SUBCELLULAR LOCATION: Nucleus .
RBM15
RNA-binding protein 15 (One-twenty two protein 1) (RNA-binding motif protein 15) Q96T37 FUNCTION: RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA . Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex . Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist . Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term hematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation (By similarity). Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation . Required for placental vascular branching morphogenesis and embryonic development of the heart and spleen (By similarity). Acts as a regulator of thrombopoietin response in hematopoietic stem cells by regulating alternative splicing of MPL (By similarity). May also function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing (, ). High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing (, ). May be implicated in HOX gene regulation .
SLC1A4
Neutral amino acid transporter A (Alanine/serine/cysteine/threonine transporter 1) (ASCT-1) (SATT) (Solute carrier family 1 member 4) P43007 FUNCTION: Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
SBNO1
Protein strawberry notch homolog 1 (Monocyte protein 3) (MOP-3) A3KN83
SEC22A
Vesicle-trafficking protein SEC22a (SEC22 vesicle-trafficking protein homolog A) (SEC22 vesicle-trafficking protein-like 2) Q96IW7 FUNCTION: May be involved in vesicle transport between the ER and the Golgi complex.
RPS21
40S ribosomal protein S21 (Small ribosomal subunit protein eS21) P63220 SUBCELLULAR LOCATION: Cytoplasm, cytosol .
TCAP
Telethonin (Titin cap protein) O15273 FUNCTION: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk. SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere .
LINC00311
Putative uncharacterized protein encoded by LINC00311 Q8N616
TMEM175
Endosomal/lysosomal potassium channel TMEM175 (Transmembrane protein 175) (hTMEM175) Q9BSA9 FUNCTION: Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel.
TMPRSS11B
Transmembrane protease serine 11B (EC 3.21.-) (Airway trypsin-like protease 5) Q86T26 FUNCTION: Serine protease.
TMEM214
Transmembrane protein 214 Q6NUQ4 FUNCTION: Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress.
TMEM168
Transmembrane protein 168 Q9H0V1 SUBCELLULAR LOCATION: Membrane .
TMEM198
Transmembrane protein 198 Q66K66 FUNCTION: Promotes LRP6 phosphorylation by casein kinases and thereby plays a role in Wnt signaling. May be a membrane scaffold protein involved in the self-aggregation of LRP6 to further enhance its activity.
YIPF6
Protein YIPF6 (YIP1 family member 6) Q96EC8 FUNCTION: May be required for stable YIPF1 and YIPF2 protein expression.
XPO5
Exportin-5 (Exp5) (Ran-binding protein 21) Q9HAV4 FUNCTION: Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of the complex and release of the cargo from the export receptor. XPO5 then returns to the nuclear compartment by diffusion through the nuclear pore complex, to mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Overexpression may in some circumstances enhance RNA-mediated gene silencing (RNAi). Mediates nuclear export of isoform 5 of ADAR/ADAR1 in a RanGTP-dependent manner.; FUNCTION: Mediates the nuclear export of micro-RNA precursors, which form short hairpins (, , ). Also mediates the nuclear export of synthetic short hairpin RNAs used for RNA interference. In some circumstances can also mediate the nuclear export of deacylated and aminoacylated tRNAs. Specifically recognizes dsRNAs that lack a 5’-overhang in a sequence-independent manner, have only a short 3’-overhang, and that have a double-stranded length of at least 15 base-pairs . Binding is dependent on Ran-GTP . Note=Shuttles between the nucleus and the cytoplasm.
USH1G
Usher syndrome type-1G protein (Scaffold protein containing ankyrin repeats and SAM domain) Q495M9 FUNCTION: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding 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.
XRCC1
DNA repair protein XRCC1 (X-ray repair cross-complementing protein 1) P18887 FUNCTION: Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.
USP9Y
Probable ubiquitin carboxyl-terminal hydrolase FAF-Y (EC 3.19.12) (Deubiquitinating enzyme FAF-Y) (Fat facets protein-related, Y-linked) (Ubiquitin thioesterase FAF-Y) (Ubiquitin-specific protease 9, Y chromosome) (Ubiquitin-specific-processing protease FAF-Y) O00507 FUNCTION: May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiquitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling (By similarity).
TRAV40
T cell receptor alpha variable 40 A0A0B4J280 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha 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 .
TRAV8-3
T cell receptor alpha variable 8-3 A0A0A6YYJ7 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha 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 .
UBL4A
Ubiquitin-like protein 4A (Ubiquitin-like protein GDX) P11441 FUNCTION: As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (, , , ). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (, , ). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome . Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum . The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome .
UBR2
E3 ubiquitin-protein ligase UBR2 (EC 2.2.27) (N-recognin-2) (RING-type E3 ubiquitin transferase UBR2) (Ubiquitin-protein ligase E3-alpha-2) (Ubiquitin-protein ligase E3-alpha-II) Q8IWV8 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. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. Required for spermatogenesis, promotes, with Tex19.1, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, which induces degradation, inhibiting LINE-1 retrotransposon mobilization (By similarity). Note=Associated with chromatin during meiosis.
TAS1R1
Taste receptor type 1 member 1 (G-protein coupled receptor 70) Q7RTX1 FUNCTION: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
WDR3
WD repeat-containing protein 3 Q9UNX4 SUBCELLULAR LOCATION: Nucleus, nucleolus .
WDR4
tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 (Protein Wuho homolog) (hWH) (WD repeat-containing protein 4) P57081 FUNCTION: Non-catalytic component of a methyltransferase complex required for the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (, , ). In the methyltransferase complex, it is required to stabilize and induce conformational changes of the catalytic subunit . Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA (, ). Also required for the formation of N(7)-methylguanine at internal sites in a subset of mRNAs . Also required for methylation of a specific subset of miRNAs, such as let-7 . Independently of METTL1, also plays a role in genome stability: localizes at the DNA replication site and regulates endonucleolytic activities of FEN1 .
ZNF121
Zinc finger protein 121 (Zinc finger protein 20) P58317 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WDR60
WD repeat-containing protein 60 Q8WVS4 FUNCTION: May play a role in ciliogenesis. Note=Located at the base of the primary cilium in serum-starved fibroblasts.
ULBP1
UL16-binding protein 1 (ALCAN-beta) (NKG2D ligand 1) (N2DL-1) (NKG2DL1) (Retinoic acid early transcript 1I) Q9BZM6 FUNCTION: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.
ZNF189
Zinc finger protein 189 O75820 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF148
Zinc finger protein 148 (Transcription factor ZBP-89) (Zinc finger DNA-binding protein 89) Q9UQR1 FUNCTION: Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes. SUBCELLULAR LOCATION: Nucleus.
UNC13D
Protein unc-13 homolog D (Munc13-4) Q70J99 FUNCTION: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
UMPS
Uridine 5’-monophosphate synthase (UMP synthase) [Includes: Orotate phosphoribosyltransferase (OPRT) (OPRTase) (EC 2.2.10); Orotidine 5’-phosphate decarboxylase (ODC) (EC 4.1.23) (OMPdecase)] P11172
UNC80
Protein unc-80 homolog Q8N2C7 FUNCTION: Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.
ZNF805
Zinc finger protein 805 Q5CZA5 FUNCTION: May be involved in transcriptional regulation.
ZNF442
Zinc finger protein 442 Q9H7R0 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF527
Zinc finger protein 527 Q8NB42 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF528
Zinc finger protein 528 Q3MIS6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSN
Translin (EC 3.-.-) (Component 3 of promoter of RISC) (C3PO) Q15631 FUNCTION: DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots.; FUNCTION: Exhibits both single-stranded and double-stranded endoribonuclease activity. May act as an activator of RNA-induced silencing complex (RISC) by facilitating endonucleolytic cleavage of the siRNA passenger strand. SUBCELLULAR LOCATION: Cytoplasm .
TSNAX
Translin-associated protein X (Translin-associated factor X) Q99598 FUNCTION: Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis.
TSPY1
Testis-specific Y-encoded protein 1 (Cancer/testis antigen 78) (CT78) Q01534 FUNCTION: May be involved in sperm differentiation and proliferation. Note=Predominantly cytoplasmic. Also found in nucleus.
TSSK1B
Testis-specific serine/threonine-protein kinase 1 (TSK-1) (TSK1) (TSSK-1) (Testis-specific kinase 1) (EC 2.11.1) (Serine/threonine-protein kinase 22A) Q9BXA7 FUNCTION: Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates ‘Ser-288’ of TSKS. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body.
TSSC4
Protein TSSC4 (Tumor-suppressing STF cDNA 4 protein) (Tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein) Q9Y5U2
TSSK6
Testis-specific serine/threonine-protein kinase 6 (TSK-6) (TSSK-6) (Testis-specific kinase 6) (EC 2.11.1) (Cancer/testis antigen 72) (CT72) (Serine/threonine-protein kinase SSTK) (Small serine/threonine kinase) Q9BXA6 FUNCTION: Required for sperm production and function. Plays a role in DNA condensation during postmeiotic chromatin remodeling (By similarity).
ZNF223
Zinc finger protein 223 Q9UK11 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WNT9B
Protein Wnt-9b (Protein Wnt-14b) (Protein Wnt-15) O14905 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathways that mediate development of kidney tubules and the Muellerian ducts. Plays a role in cranofacial development and is required for normal fusion of the palate during embryonic development (By similarity).
ZNF19
Zinc finger protein 19 (Zinc finger protein KOX12) P17023 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TTC7A
Tetratricopeptide repeat protein 7A (TPR repeat protein 7A) Q9ULT0 FUNCTION: Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (, ). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity).
ZSCAN23
Zinc finger and SCAN domain-containing protein 23 (Zinc finger protein 390) (Zinc finger protein 453) Q3MJ62 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
VAT1
Synaptic vesicle membrane protein VAT-1 homolog (EC 1.-.-) Q99536 FUNCTION: Possesses ATPase activity (By similarity). Plays a part in calcium-regulated keratinocyte activation in epidermal repair mechanisms. Has no effect on cell proliferation. Negatively regulates mitochondrial fusion in cooperation with mitofusin proteins (MFN1-2).
SLC7A11
Cystine/glutamate transporter (Amino acid transport system xc-) (Calcium channel blocker resistance protein CCBR1) (Solute carrier family 7 member 11) (xCT) Q9UPY5 FUNCTION: Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate.
TESMIN
Tesmin (Metallothionein-like 5, testis-specific) (Testis-specific metallothionein-like protein) Q9Y4I5 FUNCTION: May have a role in spermatogenesis.
ABCC4
Multidrug resistance-associated protein 4 (ATP-binding cassette sub-family C member 4) (MRP/cMOAT-related ABC transporter) (Multi-specific organic anion transporter B) (MOAT-B) O15439 FUNCTION: May be an organic anion pump relevant to cellular detoxification. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
MROH9
Maestro heat-like repeat-containing protein family member 9 Q5TGP6
N4BP2
NEDD4-binding protein 2 (N4BP2) (EC 3.-.-) (BCL-3-binding protein) Q86UW6 FUNCTION: Has 5’-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination.
RPAP2
Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 (EC 3.3.16) (RNA polymerase II-associated protein 2) Q8IXW5 FUNCTION: Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated ‘Ser-7’ of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of ‘Ser-5’ of the CTD, thereby promoting transcription of snRNA genes. Note=Shuttles between the cytoplasm and the nucleus in a CRM1-dependent manner.
RAB37
Ras-related protein Rab-37 Q96AX2 SUBCELLULAR LOCATION: Cytoplasmic vesicle. Note=Secretory granules.
RARB
Retinoic acid receptor beta (RAR-beta) (HBV-activated protein) (Nuclear receptor subfamily 1 group B member 2) (RAR-epsilon) P10826 FUNCTION: Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5’-AGGTCA-3’ sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors . The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element . In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity).; SUBCELLULAR LOCATION: [Isoform Beta-1]: Nucleus.; SUBCELLULAR LOCATION: [Isoform Beta-2]: Nucleus.; SUBCELLULAR LOCATION: [Isoform Beta-4]: Cytoplasm.
PTPN6
Tyrosine-protein phosphatase non-receptor type 6 (EC 3.3.48) (Hematopoietic cell protein-tyrosine phosphatase) (Protein-tyrosine phosphatase 1C) (PTP-1C) (Protein-tyrosine phosphatase SHP-1) (SH-PTP1) P29350 FUNCTION: Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis.
RPL15
60S ribosomal protein L15 (Large ribosomal subunit protein eL15) P61313 SUBCELLULAR LOCATION: Membrane .
RBM4B
RNA-binding protein 4B (RNA-binding motif protein 30) (RNA-binding motif protein 4B) (RNA-binding protein 30) Q9BQ04 FUNCTION: Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3’-UTR of the PER1 mRNA (By similarity). SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus.
RBM39
RNA-binding protein 39 (CAPER alpha) (Hepatocellular carcinoma protein 1) (RNA-binding motif protein 39) (RNA-binding region-containing protein 2) (Splicing factor HCC1) Q14498 FUNCTION: Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process. SUBCELLULAR LOCATION: Nucleus speckle. Note=Concentrated in nuclear speckles. Colocalizes with the core spliceosomal snRNP proteins.
PTTG2
Securin-2 (Pituitary tumor-transforming gene 2 protein) Q9NZH5 SUBCELLULAR LOCATION: Cytoplasm .
TKFC
Triokinase/FMN cyclase (Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)) [Includes: ATP-dependent dihydroxyacetone kinase (DHA kinase) (EC 2.1.28) (EC 2.1.29) (Glycerone kinase) (Triokinase) (Triose kinase); FAD-AMP lyase (cyclizing) (EC 4.1.15) (FAD-AMP lyase (cyclic FMN forming)) (FMN cyclase)] Q3LXA3 FUNCTION: Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response .
UBA5
Ubiquitin-like modifier-activating enzyme 5 (Ubiquitin-activating enzyme 5) (ThiFP1) (UFM1-activating enzyme) (Ubiquitin-activating enzyme E1 domain-containing protein 1) Q9GZZ9 FUNCTION: E1-like enzyme which activates UFM1 and SUMO2. Note=Localizes mainly in the cytoplasm, while it localizes to the nucleus in presence of SUMO2 .
UBE2S
Ubiquitin-conjugating enzyme E2 S (EC 2.2.23) (E2 ubiquitin-conjugating enzyme S) (E2-EPF) (Ubiquitin carrier protein S) (Ubiquitin-conjugating enzyme E2-24 kDa) (Ubiquitin-conjugating enzyme E2-EPF5) (Ubiquitin-protein ligase S) Q16763 FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins . Catalyzes ‘Lys-11’-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by specifically elongating ‘Lys-11’-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit (, , ). Also acts by elongating ubiquitin chains initiated by the E2 enzyme UBE2D1/UBCH5 in vitro; it is however unclear whether UBE2D1/UBCH5 acts as an E2 enzyme for the APC/C in vivo. Also involved in ubiquitination and subsequent degradation of VHL, resulting in an accumulation of HIF1A . In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, except ‘Lys-48’-linked polyubiquitination (, ).
UBE3D
E3 ubiquitin-protein ligase E3D (EC 2.2.26) (HECT-type E3 ubiquitin transferase E3D) (UbcH10-binding protein with a HECT-like domain) (Ubiquitin-conjugating enzyme E2C-binding protein) Q7Z6J8 FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome.
UPK3BL2
Uroplakin-3b-like protein 2 E5RIL1 SUBCELLULAR LOCATION: Membrane .
USP21
Ubiquitin carboxyl-terminal hydrolase 21 (EC 3.19.12) (Deubiquitinating enzyme 21) (Ubiquitin thioesterase 21) (Ubiquitin-specific-processing protease 21) Q9UK80 FUNCTION: Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at ‘Lys-4’, resulting in regulation of transcriptional initiation. Regulates gene expression via histone H2A deubiquitination (By similarity). Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates . Deubiquitinates BAZ2A/TIP5 leading to its stabilization .
USP29
Ubiquitin carboxyl-terminal hydrolase 29 (EC 3.19.12) (Deubiquitinating enzyme 29) (Ubiquitin thioesterase 29) (Ubiquitin-specific-processing protease 29) Q9HBJ7
ZNF280B
Zinc finger protein 280B (5’OY11.1) (Suppressor of hairy wing homolog 2) (Zinc finger protein 279) (Zinc finger protein 632) Q86YH2 FUNCTION: May function as a transcription factor. SUBCELLULAR LOCATION: Nucleus .
USP27X
Ubiquitin carboxyl-terminal hydrolase 27 (EC 3.19.12) (Deubiquitinating enzyme 27) (Ubiquitin carboxyl-terminal hydrolase 22-like) (Ubiquitin thioesterase 27) (Ubiquitin-specific-processing protease 27) (X-linked ubiquitin carboxyl-terminal hydrolase 27) A6NNY8 FUNCTION: Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity.
USP53
Inactive ubiquitin carboxyl-terminal hydrolase 53 (Inactive ubiquitin-specific peptidase 53) Q70EK8 FUNCTION: Tight junction-associated protein that is involved in the survival of auditory hair cells and hearing. Maybe by modulating the barrier properties and mechanical stability of tight junctions (By similarity). Has no peptidase activity .
USP48
Ubiquitin carboxyl-terminal hydrolase 48 (EC 3.19.12) (Deubiquitinating enzyme 48) (Ubiquitin thioesterase 48) (Ubiquitin-specific peptidase 48) (Ubiquitin-specific protease 48) (Ubiquitin-specific-processing protease 48) Q86UV5 FUNCTION: Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites.
ZNF585A
Zinc finger protein 585A Q6P3V2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF280D
Zinc finger protein 280D (Suppressor of hairy wing homolog 4) (Zinc finger protein 634) Q6N043 FUNCTION: May function as a transcription factor. SUBCELLULAR LOCATION: Nucleus .
ZBED2
Zinc finger BED domain-containing protein 2 Q9BTP6
ZBED6
Zinc finger BED domain-containing protein 6 P86452 FUNCTION: Transcriptional repressor which binds to the consensus sequence 5’-GCTCGC-3’ and represses transcription of IGF2. May also regulate expression of other target genes containing this consensus binding site (By similarity).
UBXN2B
UBX domain-containing protein 2B (NSFL1 cofactor p37) (p97 cofactor p37) Q14CS0 FUNCTION: Adapter protein required for Golgi and endoplasmic reticulum biogenesis . Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis . The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L . VCPIP1 is also required, but not its deubiquitinating activity . Together with NSFL1C/p47, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase . Also, regulates spindle orientation during mitosis .
ZBED1
Zinc finger BED domain-containing protein 1 (Putative Ac-like transposable element) (dREF homolog) O96006 FUNCTION: Binds to 5’-TGTCG[CT]GA[CT]A-3’ DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity. Note=In granular structures.
ZC3H12D
Probable ribonuclease ZC3H12D (EC 3.-.-) (MCP-induced protein 4) (Transformed follicular lymphoma) (Zinc finger CCCH domain-containing protein 12D) (p34) A2A288 FUNCTION: May regulate cell growth likely by suppressing RB1 phosphorylation . May function as RNase and regulate the levels of target RNA species (Potential). In association with ZC3H12A enhances the degradation of interleukin IL-6 mRNA level in activated macrophages . Serve as a tumor suppressor in certain leukemia cells . Overexpression inhibits the G1 to S phase progression through suppression of RB1 phosphorylation .; SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm. Note=Localized as discrete granules. Colocalized with mRNA-processing body markers, AGO2 and DCP1A, but not with a stress granule maker, TIA1, in the cytoplasm.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm. Nucleus.
ZC2HC1C
Zinc finger C2HC domain-containing protein 1C Q53FD0
TYSND1
Peroxisomal leader peptide-processing protease (EC 3.21.-) (Trypsin domain-containing protein 1) [Cleaved into: Peroxisomal leader peptide-processing protease, 15 kDa form; Peroxisomal leader peptide-processing protease, 45 kDa form] Q2T9J0 FUNCTION: Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta-oxidation of fatty acids.
ZDHHC14
Probable palmitoyltransferase ZDHHC14 (EC 2.1.225) (NEW1 domain-containing protein) (NEW1CP) (Zinc finger DHHC domain-containing protein 14) (DHHC-14) Q8IZN3 SUBCELLULAR LOCATION: Membrane .
TYMS
Thymidylate synthase (TS) (TSase) (EC 2.1.45) P04818 FUNCTION: Contributes to the de novo mitochondrial thymidylate biosynthesis pathway.
ZDHHC20
Palmitoyltransferase ZDHHC20 (EC 2.1.225) (Zinc finger DHHC domain-containing protein 20) (DHHC-20) Q5W0Z9 FUNCTION: Catalyzes palmitoylation of Cys residues on target proteins (, ). Catalyzes palmitoylation of Cys residues in the cytoplasmic C-terminus of EGFR, and modulates the duration of EGFR signaling by modulating palmitoylation-dependent EGFR internalization and degradation . Has a preference for acyl-CoA with C16 fatty acid chains . Can also utilize acyl-CoA with C14 and C18 fatty acid chains .
WASF1
Wiskott-Aldrich syndrome protein family member 1 (WASP family protein member 1) (Protein WAVE-1) (Verprolin homology domain-containing protein 1) Q92558 FUNCTION: Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).
WBP2NL
Postacrosomal sheath WW domain-binding protein (WW domain-binding protein 2-like) Q6ICG8 FUNCTION: May play a role in meotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization.
SUGP2
SURP and G-patch domain-containing protein 2 (Arginine/serine-rich-splicing factor 14) (Splicing factor, arginine/serine-rich 14) Q8IX01 FUNCTION: May play a role in mRNA splicing.
TIMP3
Metalloproteinase inhibitor 3 (Protein MIG-5) (Tissue inhibitor of metalloproteinases 3) (TIMP-3) P35625 FUNCTION: Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TLCD1
TLC domain-containing protein 1 (Calfacilitin) Q96CP7 FUNCTION: Regulates the composition and fluidity of the plasma membrane . Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity . Does not appear to have any effect on LCPUFA synthesis .
TIMM8B
Mitochondrial import inner membrane translocase subunit Tim8 B (DDP-like protein) (Deafness dystonia protein 2) Q9Y5J9 FUNCTION: Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity).
TDRD7
Tudor domain-containing protein 7 (PCTAIRE2-binding protein) (Tudor repeat associator with PCTAIRE-2) (Trap) Q8NHU6 FUNCTION: Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis.
TMEM14DP
Transmembrane protein 14DP A8MWL7 SUBCELLULAR LOCATION: Membrane .
TMEM138
Transmembrane protein 138 Q9NPI0 FUNCTION: Required for ciliogenesis. Note=Localizes to vesicles en route to the base of cilium.
TMEM144
Transmembrane protein 144 Q7Z5S9 SUBCELLULAR LOCATION: Membrane .
UBE2L3
Ubiquitin-conjugating enzyme E2 L3 (EC 2.2.23) (E2 ubiquitin-conjugating enzyme L3) (L-UBC) (UbcH7) (Ubiquitin carrier protein L3) (Ubiquitin-conjugating enzyme E2-F1) (Ubiquitin-protein ligase L3) P68036 FUNCTION: Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PRKN and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes ‘Lys-11’-linked polyubiquitination. Involved in the selective degradation of short-lived and abnormal proteins. Down-regulated during the S-phase it is involved in progression through the cell cycle. Regulates nuclear hormone receptors transcriptional activity. May play a role in myelopoiesis.
ZNF705B
Putative zinc finger protein 705B P0CI00 FUNCTION: May be involved in transcriptional regulation.
UBQLN2
Ubiquilin-2 (Chap1) (DSK2 homolog) (Protein linking IAP with cytoskeleton 2) (PLIC-2) (hPLIC-2) (Ubiquitin-like product Chap1/Dsk2) Q9UHD9 FUNCTION: Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome . Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (, ). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (, ). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) .
PRSS3P2
Putative trypsin-6 (EC 3.21.4) (Serine protease 3 pseudogene 2) (Trypsinogen C) Q8NHM4 FUNCTION: May regulate cell migration.
VEZF1
Vascular endothelial zinc finger 1 (Putative transcription factor DB1) (Zinc finger protein 161) Q14119 FUNCTION: Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3.
WDR48
WD repeat-containing protein 48 (USP1-associated factor 1) (WD repeat endosomal protein) (p80) Q8TAF3 FUNCTION: Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46 (, , ). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself . Also activates deubiquitinating activity of complexes containing USP12 (, , ). Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme (, ). Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate (, ). In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability . In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP . In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1 .
WDR62
WD repeat-containing protein 62 O43379 FUNCTION: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (, ). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication .
WDR89
WD repeat-containing protein 89 Q96FK6
WDR75
WD repeat-containing protein 75 (U3 small nucleolar RNA-associated protein 17 homolog) Q8IWA0 FUNCTION: Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.
ZNF177
Zinc finger protein 177 Q13360 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WDR70
WD repeat-containing protein 70 Q9NW82
WDR83
WD repeat domain-containing protein 83 (Mitogen-activated protein kinase organizer 1) (MAPK organizer 1) Q9BRX9 FUNCTION: Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing.
