Human Genes Group 2 Flashcards
1
Q
XRN2
A
5’-3’ exoribonuclease 2 (EC 3.13.-) (DHM1-like protein) (DHP protein) Q9H0D6 FUNCTION: Possesses 5’->3’ exoribonuclease activity (By similarity). May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5’ fragment which is subsequently processed to form the mature mRNA and a 3’ fragment which remains attached to the elongating polymerase. The processive degradation of this 3’ fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G-rich pause sites .
2
Q
USHBP1
A
Usher syndrome type-1C protein-binding protein 1 (USH1C-binding protein 1) (AIE-75-binding protein) (MCC-2) (Mutated in colon cancer protein 2) Q8N6Y0
3
Q
TRAV26-1
A
T cell receptor alpha variable 26-1 A0A087WT03 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 .
4
Q
TRBV20-1
A
T cell receptor beta variable 20-1 A0A075B6N2 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
5
Q
WAC
A
WW domain-containing adapter protein with coiled-coil Q9BTA9 FUNCTION: Acts as a linker between gene transcription and histone H2B monoubiquitination at ‘Lys-120’ (H2BK120ub1) . Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription . Regulates the cell-cycle checkpoint activation in response to DNA damage . Positive regulator of amino acid starvation-induced autophagy . Also acts as a negative regulator of basal autophagy . Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation . May negatively regulate the ubiquitin proteasome pathway .
6
Q
WAPL
A
Wings apart-like protein homolog (Friend of EBNA2 protein) (WAPL cohesin release factor) Q7Z5K2 FUNCTION: Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin. Involved in both sister chromatid cohesion during interphase and sister-chromatid resolution during early stages of mitosis. Couples DNA replication to sister chromatid cohesion. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. SUBCELLULAR LOCATION: [Isoform 2]: Nucleus.; SUBCELLULAR LOCATION: Nucleus. Chromosome. Cytoplasm. Note=Associates with chromatin through the cohesin complex during interphase. Released in the cytoplasm from nuclear envelope breakdown until anaphase, it reaccumulates in nucleus at telophase.
7
Q
ZIK1
A
Zinc finger protein interacting with ribonucleoprotein K (Zinc finger protein 762) Q3SY52 FUNCTION: May be a transcriptional repressor.
8
Q
TPSAB1
A
Tryptase alpha/beta-1 (Tryptase-1) (EC 3.21.59) (Tryptase I) (Tryptase alpha-1) Q15661 FUNCTION: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates .
9
Q
UNC79
A
Protein unc-79 homolog Q9P2D8 FUNCTION: Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.
10
Q
ZNF418
A
Zinc finger protein 418 Q8TF45 FUNCTION: Transcriptional repressor.
11
Q
ZNF467
A
Zinc finger protein 467 Q7Z7K2 FUNCTION: Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5’-CTTCTGGGAAGA-3’ of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity).
12
Q
ZNF45
A
Zinc finger protein 45 (BRC1744) (Zinc finger protein 13) (Zinc finger protein KOX5) Q02386 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus.
13
Q
ZNF517
A
Zinc finger protein 517 Q6ZMY9 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
14
Q
ZNF511
A
Zinc finger protein 511 Q8NB15 FUNCTION: May be involved in transcriptional regulation.
15
Q
TSPAN14
A
Tetraspanin-14 (Tspan-14) (DC-TM4F2) (Transmembrane 4 superfamily member 14) Q8NG11 FUNCTION: Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (, , ). Negatively regulates ADAM10-mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity).
16
Q
ZNF622
A
Zinc finger protein 622 (Zinc finger-like protein 9) Q969S3 FUNCTION: May behave as an activator of the bound transcription factor, MYBL2, and be involved in embryonic development. SUBCELLULAR LOCATION: Cytoplasm .
17
Q
TTC19
A
Tetratricopeptide repeat protein 19, mitochondrial (TPR repeat protein 19) Q6DKK2 FUNCTION: Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (, ). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity .
18
Q
ZSCAN25
A
Zinc finger and SCAN domain-containing protein 25 (Zinc finger protein 498) Q6NSZ9 FUNCTION: May be involved in transcriptional regulation.
19
Q
S100A5
A
Protein S100-A5 (Protein S-100D) (S100 calcium-binding protein A5) P33763 FUNCTION: Binds calcium, zinc and copper. One subunit can simultaneously bind 2 calcium ions or 2 copper ions plus 1 zinc ion. Calcium and copper ions compete for the same binding sites.
20
Q
TCL1A
A
T-cell leukemia/lymphoma protein 1A (Oncogene TCL-1) (Oncogene TCL1) (Protein p14 TCL1) P56279 FUNCTION: Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival. Note=Microsomal fraction.
21
Q
TDG
A
G/T mismatch-specific thymine DNA glycosylase (EC 3.2.29) (Thymine-DNA glycosylase) (hTDG) Q13569 FUNCTION: DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T»_space; C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine.
22
Q
USP6NL
A
USP6 N-terminal-like protein (Related to the N-terminus of tre) (RN-tre) Q92738 FUNCTION: Acts as a GTPase-activating protein for RAB5A and RAB43. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex. SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle.
23
Q
TULP2
A
Tubby-related protein 2 (Cancer/testis antigen 65) (CT65) (Tubby-like protein 2) O00295 SUBCELLULAR LOCATION: Cytoplasm .
24
Q
TVP23C
A
Golgi apparatus membrane protein TVP23 homolog C Q96ET8 SUBCELLULAR LOCATION: Membrane .
25
TRAV41
T cell receptor alpha variable 41 A0A0B4J266 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 .
26
TEX13B
Testis-expressed protein 13B Q9BXU2
27
USP28
Ubiquitin carboxyl-terminal hydrolase 28 (EC 3.19.12) (Deubiquitinating enzyme 28) (Ubiquitin thioesterase 28) (Ubiquitin-specific-processing protease 28) Q96RU2 FUNCTION: Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Deubiquitinates ZNF304, hence preventing ZNF304 degradation by the proteasome and leading to the activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) in a subset of colorectal cancers (CRC) cells .
28
ZAP70
Tyrosine-protein kinase ZAP-70 (EC 2.10.2) (70 kDa zeta-chain associated protein) (Syk-related tyrosine kinase) P43403 FUNCTION: Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated TCR and to relieve its autoinhibited conformation. Release of ZAP70 active conformation is further stabilized by phosphorylation mediated by LCK. Subsequently, ZAP70 phosphorylates at least 2 essential adapter proteins: LAT and LCP2. In turn, a large number of signaling molecules are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation. Furthermore, ZAP70 controls cytoskeleton modifications, adhesion and mobility of T-lymphocytes, thus ensuring correct delivery of effectors to the APC. ZAP70 is also required for TCR-CD247/CD3Z internalization and degradation through interaction with the E3 ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2. Thus, ZAP70 regulates both T-cell activation switch on and switch off by modulating TCR expression at the T-cell surface. During thymocyte development, ZAP70 promotes survival and cell-cycle progression of developing thymocytes before positive selection (when cells are still CD4/CD8 double negative). Additionally, ZAP70-dependent signaling pathway may also contribute to primary B-cells formation and activation through B-cell receptor (BCR).
29
ZC3H12B
Probable ribonuclease ZC3H12B (EC 3.-.-) (MCP-induced protein 2) (Zinc finger CCCH domain-containing protein 12B) Q5HYM0 FUNCTION: May function as RNase and regulate the levels of target RNA species.
30
ZBTB7A
Zinc finger and BTB domain-containing protein 7A (Factor binding IST protein 1) (FBI-1) (Factor that binds to inducer of short transcripts protein 1) (HIV-1 1st-binding protein 1) (Leukemia/lymphoma-related factor) (POZ and Krueppel erythroid myeloid ontogenic factor) (POK erythroid myeloid ontogenic factor) (Pokemon) (Pokemon 1) (TTF-I-interacting peptide 21) (TIP21) (Zinc finger protein 857A) O95365 FUNCTION: Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation (, , , , , ). Directly and specifically binds to the consensus sequence 5'-[GA][CA]GACCCCCCCCC-3' and represses transcription both by regulating the organization of chromatin and through the direct recruitment of transcription factors to gene regulatory regions (, , , , ). Negatively regulates SMAD4 transcriptional activity in the TGF-beta signaling pathway through these two mechanisms . That is, recruits the chromatin regulator HDAC1 to the SMAD4-DNA complex and in parallel prevents the recruitment of the transcriptional activators CREBBP and EP300 . Collaborates with transcription factors like RELA to modify the accessibility of gene transcription regulatory regions to secondary transcription factors (By similarity). Also directly interacts with transcription factors like SP1 to prevent their binding to DNA . Functions as an androgen receptor/AR transcriptional corepressor by recruiting NCOR1 and NCOR2 to the androgen response elements/ARE on target genes . Thereby, negatively regulates androgen receptor signaling and androgen-induced cell proliferation . Involved in the switch between fetal and adult globin expression during erythroid cells maturation . Through its interaction with the NuRD complex regulates chromatin at the fetal globin genes to repress their transcription . Specifically represses the transcription of the tumor suppressor ARF isoform from the CDKN2A gene (By similarity). Efficiently abrogates E2F1-dependent CDKN2A transactivation (By similarity). Regulates chondrogenesis through the transcriptional repression of specific genes via a mechanism that also requires histone deacetylation (By similarity). Regulates cell proliferation through the transcriptional regulation of genes involved in glycolysis . Involved in adipogenesis through the regulation of genes involved in adipocyte differentiation . Plays a key role in the differentiation of lymphoid progenitors into B and T lineages (By similarity). Promotes differentiation towards the B lineage by inhibiting the T-cell instructive Notch signaling pathway through the specific transcriptional repression of Notch downstream target genes (By similarity). Also regulates osteoclast differentiation (By similarity). May also play a role, independently of its transcriptional activity, in double-strand break repair via classical non-homologous end joining/cNHEJ (By similarity). Recruited to double-strand break sites on damage DNA, interacts with the DNA-dependent protein kinase complex and directly regulates its stability and activity in DNA repair (By similarity). May also modulate the splicing activity of KHDRBS1 toward BCL2L1 in a mechanism which is histone deacetylase-dependent and thereby negatively regulates the pro-apoptotic effect of KHDRBS1 .
31
ZBTB7C
Zinc finger and BTB domain-containing protein 7C (Affected by papillomavirus DNA integration in ME180 cells protein 1) (APM-1) (Zinc finger and BTB domain-containing protein 36) (Zinc finger protein 857C) A1YPR0 FUNCTION: May be a tumor suppressor gene.
32
ZC3H18
Zinc finger CCCH domain-containing protein 18 (Nuclear protein NHN1) Q86VM9 SUBCELLULAR LOCATION: Nucleus .
33
ZCCHC23
Zinc finger CCHC domain-containing protein 23 Q6ZST2
34
ZCCHC14
Zinc finger CCHC domain-containing protein 14 (BDG-29) Q8WYQ9
35
ZDHHC15
Palmitoyltransferase ZDHHC15 (EC 2.1.225) (Zinc finger DHHC domain-containing protein 15) (DHHC-15) Q96MV8 FUNCTION: Catalyzes palmitoylation of Cys residues on target proteins. Catalyzes palmitoylation of GAP43 and DLG4/PSD95.
36
ZDHHC18
Palmitoyltransferase ZDHHC18 (EC 2.1.225) (Zinc finger DHHC domain-containing protein 18) (DHHC-18) Q9NUE0 FUNCTION: Has palmitoyltransferase activity towards HRAS and LCK.
37
UGT2B11
UDP-glucuronosyltransferase 2B11 (UDPGT 2B11) (EC 2.1.17) O75310 FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. SUBCELLULAR LOCATION: Microsome membrane .
38
HIVEP1
Zinc finger protein 40 (Cirhin interaction protein) (CIRIP) (Gate keeper of apoptosis-activating protein) (GAAP) (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex-binding protein 1) (MBP-1) (Positive regulatory domain II-binding factor 1) (PRDII-BF1) P15822 FUNCTION: This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis. SUBCELLULAR LOCATION: [Isoform 1]: Nucleus.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm .
39
ZFHX4
Zinc finger homeobox protein 4 (Zinc finger homeodomain protein 4) (ZFH-4) Q86UP3 FUNCTION: May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation.
40
ZFP3
Zinc finger protein 3 homolog (Zfp-3) (Zinc finger protein 752) Q96NJ6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
41
ZFR
Zinc finger RNA-binding protein (hZFR) (M-phase phosphoprotein homolog) Q96KR1 FUNCTION: Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity).
42
ZMAT5
Zinc finger matrin-type protein 5 (U11/U12 small nuclear ribonucleoprotein 20 kDa protein) (U11/U12 snRNP 20 kDa protein) (U11/U12-20K) Q9UDW3 SUBCELLULAR LOCATION: Nucleus .
43
WDR44
WD repeat-containing protein 44 (Rabphilin-11) Q5JSH3 FUNCTION: Downstream effector for RAB11. May be involved in vesicle recycling (By similarity).
44
ZNF117
Zinc finger protein 117 (Provirus-linked krueppel) (h-PLK) (Zinc finger protein HPF9) Q03924 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
45
ZNF106
Zinc finger protein 106 (Zfp-106) (Zinc finger protein 474) Q9H2Y7 FUNCTION: RNA-binding protein. Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism.
46
WDR81
WD repeat-containing protein 81 Q562E7 FUNCTION: Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport . It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome . May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C . May also be involved in maintenance of normal mitochondrial structure and organization (By similarity).
47
ZNF157
Zinc finger protein 157 (Zinc finger protein HZF22) P51786 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
48
ZNF229
Zinc finger protein 229 Q9UJW7 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
49
ZNF253
Zinc finger protein 253 (Bone marrow zinc finger 1) (BMZF-1) (Zinc finger protein 411) O75346 FUNCTION: May function as a transcription factor. Seem to have a transcriptional repression activity. SUBCELLULAR LOCATION: Nucleus .
50
ZNF212
Zinc finger protein 212 (Zinc finger protein C2H2-150) Q9UDV6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
51
ZNF277
Zinc finger protein 277 (Nuclear receptor-interacting factor 4) Q9NRM2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
52
ZNF428
Zinc finger protein 428 (Enzyme-like protein PIT13) Q96B54
53
WFDC9
Protein WFDC9 Q8NEX5 SUBCELLULAR LOCATION: Secreted .
54
ZNF826P
Putative zinc finger protein 826 Q6ZT77 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
55
ZNF416
Zinc finger protein 416 Q9BWM5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
56
ZNF516
Zinc finger protein 516 Q92618 FUNCTION: Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress .
57
TSKU
Tsukushin (Tsukushi) (E2-induced gene 4 protein) (Leucine-rich repeat-containing protein 54) Q8WUA8 SUBCELLULAR LOCATION: Secreted .
58
ZNF91
Zinc finger protein 91 (Zinc finger protein HPF7) (Zinc finger protein HTF10) Q05481 FUNCTION: Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1 . May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidence is required to confirm this result in vivo .
59
ZNF519
Zinc finger protein 519 Q8TB69 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
60
ZNF514
Zinc finger protein 514 Q96K75 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
61
TSPAN10
Tetraspanin-10 (Tspan-10) (Oculospanin) Q9H1Z9 FUNCTION: Regulates maturation of the transmembrane metalloprotease ADAM10.
62
ZNF552
Zinc finger protein 552 Q9H707 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
63
ZNF57
Zinc finger protein 57 (Zinc finger protein 424) Q68EA5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
64
ZNF66
Putative zinc finger protein 66 (Zinc finger protein 66 pseudogene) Q6ZN08 FUNCTION: May be involved in transcriptional regulation.
65
ZNF583
Zinc finger protein 583 (Zinc finger protein L3-5) Q96ND8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
66
TTF1
Transcription termination factor 1 (TTF-1) (RNA polymerase I termination factor) (Transcription termination factor I) (TTF-I) Q15361 FUNCTION: Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity.
67
ZSWIM2
E3 ubiquitin-protein ligase ZSWIM2 (EC 2.2.27) (MEKK1-related protein X) (MEX) (RING-type E3 ubiquitin transferase ZSWIM2) (ZZ-type zinc finger-containing protein 2) (Zinc finger SWIM domain-containing protein 2) Q8NEG5 FUNCTION: E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes.
68
VNN3
Vascular non-inflammatory molecule 3 (Vanin-3) (EC 3.1.92) Q9NY84 FUNCTION: Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.
69
TTPAL
Alpha-tocopherol transfer protein-like Q9BTX7 FUNCTION: May act as a protein that binds a hydrophobic ligand.
70
VN1R4
Vomeronasal type-1 receptor 4 (G-protein coupled receptor GPCR27) (hGPCR27) (V1r-like receptor 4) Q7Z5H5 FUNCTION: Putative pheromone receptor. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
71
SHISA2
Protein shisa-2 homolog (Transmembrane protein 46) Q6UWI4 FUNCTION: Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling.
72
TRBJ2-3
T cell receptor beta joining 2-3 A0A0B4J200 FUNCTION: J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
73
UBE3A
Ubiquitin-protein ligase E3A (EC 2.2.26) (E6AP ubiquitin-protein ligase) (HECT-type ubiquitin transferase E3A) (Human papillomavirus E6-associated protein) (Oncogenic protein-associated protein E6-AP) (Renal carcinoma antigen NY-REN-54) Q05086 FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (, , , , , , , , ). Several substrates have been identified including the ARNTL/BMAL1, ARC, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B (, , , , , ). Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins . Finally, UBE3A also promotes its own degradation in vivo. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component ARNTL/BMAL1, leading to its proteasomal degradation . Acts as transcriptional coactivator of progesterone receptor PGR upon progesterone hormone activation . Acts as a regulator of synaptic development by mediating ubiquitination and degradation of ARC (By similarity). Synergizes with WBP2 in enhancing PGR activity .
74
SLC7A6
Y+L amino acid transporter 2 (Cationic amino acid transporter, y+ system) (Solute carrier family 7 member 6) (y(+)L-type amino acid transporter 2) (Y+LAT2) (y+LAT-2) Q92536 FUNCTION: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.
75
TRAV18
T cell receptor alpha variable 18 A0A075B6X5 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 .
76
ZNF705D
Zinc finger protein 705D P0CH99 FUNCTION: May be involved in transcriptional regulation.
77
ZBTB49
Zinc finger and BTB domain-containing protein 49 (Zinc finger protein 509) Q6ZSB9 FUNCTION: Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription.
78
ZC3H11A
Zinc finger CCCH domain-containing protein 11A O75152 FUNCTION: Involved in nuclear mRNA export; probably mediated by association with the TREX complex.
79
TYMP
Thymidine phosphorylase (TP) (EC 2.2.4) (Gliostatin) (Platelet-derived endothelial cell growth factor) (PD-ECGF) (TdRPase) P19971 FUNCTION: May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro.
80
ZBTB8A
Zinc finger and BTB domain-containing protein 8A (BTB/POZ and zinc-finger domain-containing factor) (BTB/POZ and zinc-finger domains factor on chromosome 1) (BOZ-F1) Q96BR9 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
81
UQCRFS1
Cytochrome b-c1 complex subunit Rieske, mitochondrial (EC 7.1.8) (Complex III subunit 5) (Cytochrome b-c1 complex subunit 5) (Rieske iron-sulfur protein) (RISP) (Rieske protein UQCRFS1) (Ubiquinol-cytochrome c reductase iron-sulfur subunit) [Cleaved into: Cytochrome b-c1 complex subunit 9 (Su9) (Subunit 9) (8 kDa subunit 9) (Complex III subunit IX) (Cytochrome b-c1 complex subunit 11) (Ubiquinol-cytochrome c reductase 8 kDa protein)] P47985 FUNCTION: [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis . Incorporation of UQCRFS1 is the penultimate step in complex III assembly .
82
ZCCHC18
Zinc finger CCHC domain-containing protein 18 P0CG32
83
UGT1A9
UDP-glucuronosyltransferase 1-9 (UDPGT 1-9) (UGT1*9) (UGT1-09) (UGT1.9) (EC 2.1.17) (UDP-glucuronosyltransferase 1-I) (UGT-1I) (UGT1I) (UDP-glucuronosyltransferase 1A9) (lugP4) O60656 FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.
84
USP54
Inactive ubiquitin carboxyl-terminal hydrolase 54 (Inactive ubiquitin-specific peptidase 54) Q70EL1 FUNCTION: Has no peptidase activity.
85
ZDHHC11
Probable palmitoyltransferase ZDHHC11 (EC 2.1.225) (Zinc finger DHHC domain-containing protein 11) (DHHC-11) (Zinc finger protein 399) Q9H8X9 SUBCELLULAR LOCATION: Membrane .
86
ZDHHC5
Palmitoyltransferase ZDHHC5 (EC 2.1.225) (Zinc finger DHHC domain-containing protein 5) (DHHC-5) (Zinc finger protein 375) Q9C0B5 FUNCTION: Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5. Also palmitoylates FLOT2 (By similarity).
87
WASHC2A
WASH complex subunit 2A Q641Q2 FUNCTION: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L.
88
ZFHX2
Zinc finger homeobox protein 2 (Zinc finger homeodomain protein 2) (ZFH-2) Q9C0A1 FUNCTION: Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli.
89
VEGFA
Vascular endothelial growth factor A (VEGF-A) (Vascular permeability factor) (VPF) P15692 FUNCTION: Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth. Binding to NRP1 receptor initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity). Note=VEGF121 is acidic and freely secreted. VEGF165 is more basic, has heparin-binding properties and, although a significant proportion remains cell-associated, most is freely secreted. VEGF189 is very basic, it is cell-associated after secretion and is bound avidly by heparin and the extracellular matrix, although it may be released as a soluble form by heparin, heparinase or plasmin.
90
TPSD1
Tryptase delta (EC 3.21.59) (Delta-tryptase) (HmMCP-3-like tryptase III) (Mast cell mMCP-7-like) (Tryptase-3) Q9BZJ3 FUNCTION: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type.
91
TXNRD3
Thioredoxin reductase 3 (EC 1.1.9) (Thioredoxin and glutathione reductase) (Thioredoxin reductase TR2) Q86VQ6 FUNCTION: Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity).
92
ZMAT1
Zinc finger matrin-type protein 1 Q5H9K5 SUBCELLULAR LOCATION: Nucleus .
93
ZNF140
Zinc finger protein 140 P52738 FUNCTION: May be involved in transcriptional regulation as a repressor. SUBCELLULAR LOCATION: Nucleus .
94
ZNF205
Zinc finger protein 205 (Zinc finger protein 210) O95201 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
95
VGLL2
Transcription cofactor vestigial-like protein 2 (Vgl-2) (Protein VITO1) Q8N8G2 FUNCTION: May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles. SUBCELLULAR LOCATION: Nucleus .
96
TSBP1
Testis-expressed basic protein 1 (Uncharacterized protein C6orf10) Q5SRN2 SUBCELLULAR LOCATION: Membrane .
97
ZNF783
Protein ZNF783 Q6ZMS7 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
98
ZNF735
Putative zinc finger protein 735 (Zinc finger protein 735 pseudogene) P0CB33 FUNCTION: May be involved in transcriptional regulation.
99
ZNF347
Zinc finger protein 347 (Zinc finger protein 1111) Q96SE7 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
100
ZNF474
Zinc finger protein 474 (Testis-specific zinc finger protein) (TSZFP) Q6S9Z5
101
ZNF8
Zinc finger protein 8 (Zinc finger protein HF.18) P17098 FUNCTION: Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins.
102
WNK1
Serine/threonine-protein kinase WNK1 (EC 2.11.1) (Erythrocyte 65 kDa protein) (p65) (Kinase deficient protein) (Protein kinase lysine-deficient 1) (Protein kinase with no lysine 1) (hWNK1) Q9H4A3 FUNCTION: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).
103
ZNF550
Zinc finger protein 550 Q7Z398 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
104
ZNF577
Zinc finger protein 577 Q9BSK1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
105
ZNF644
Zinc finger protein 644 (Zinc finger motif enhancer-binding protein 2) (Zep-2) Q9H582 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus.
106
ZNF655
Zinc finger protein 655 (Vav-interacting Krueppel-like protein) Q8N720 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
107
TTC38
Tetratricopeptide repeat protein 38 (TPR repeat protein 38) Q5R3I4
108
MS4A3
Membrane-spanning 4-domains subfamily A member 3 (CD20 antigen-like protein) (Hematopoietic-specific transmembrane protein 4) (HTm4) Q96HJ5 FUNCTION: Hematopoietic modulator for the G1-S cell cycle transition. Modulates the level of phosphorylation of cyclin-dependent kinase 2 (CDK2) through its direct binding to cyclin-dependent kinase inhibitor 3 (CDKN3/KAP). Note=Located in the perinuclear area.
109
PRELID3B
PRELI domain containing protein 3B (Protein slowmo homolog 2) Q9Y3B1
110
HERVK_113
Endogenous retrovirus group K member 113 Rec protein (HERV-K113 Rec protein) (HERV-K_19p13.11 provirus Rec protein) P61574 FUNCTION: Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity).
111
RFPL4AL1
Ret finger protein-like 4A-like protein 1 F8VTS6
112
RAB11FIP1
Rab11 family-interacting protein 1 (Rab11-FIP1) (Rab-coupling protein) Q6WKZ4 FUNCTION: A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis. Note=Rab11A rather than Rab4A mediates localization in the endocytic recycling compartment (ERC).; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasmic vesicle, phagosome membrane. Note=Membrane-bound (isoform 2). Colocalizes with Rab11A at phagosomes (isoform 2).
113
RPL18
60S ribosomal protein L18 (Large ribosomal subunit protein eL18) Q07020 FUNCTION: Component of the large ribosomal subunit.
114
RFXAP
Regulatory factor X-associated protein (RFX-associated protein) (RFX DNA-binding complex 36 kDa subunit) O00287 FUNCTION: Part of the RFX complex that binds to the X-box of MHC II promoters. SUBCELLULAR LOCATION: Nucleus.
115
RASGEF1C
Ras-GEF domain-containing family member 1C Q8N431 FUNCTION: Guanine nucleotide exchange factor (GEF).
116
REPIN1
Replication initiator 1 (60 kDa origin-specific DNA-binding protein) (60 kDa replication initiation region protein) (ATT-binding protein) (DHFR oribeta-binding protein RIP60) (Zinc finger protein 464) Q9BWE0 FUNCTION: Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5'-ATT-3' reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending. SUBCELLULAR LOCATION: Nucleus .
117
RGS17
Regulator of G-protein signaling 17 (RGS17) Q9UGC6 FUNCTION: Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form . Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity).
118
RAX2
Retina and anterior neural fold homeobox protein 2 (Q50-type retinal homeobox protein) (Retina and anterior neural fold homeobox-like protein 1) Q96IS3 FUNCTION: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.
119
RGS5
Regulator of G-protein signaling 5 (RGS5) O15539 FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity).
120
RGS21
Regulator of G-protein signaling 21 (RGS21) Q2M5E4 FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.
121
QTRT2
Queuine tRNA-ribosyltransferase accessory subunit 2 (Queuine tRNA-ribosyltransferase domain-containing protein 1) Q9H974 FUNCTION: Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine).
122
RBP2
Retinol-binding protein 2 (Cellular retinol-binding protein II) (CRBP-II) P50120 FUNCTION: Intracellular transport of retinol. SUBCELLULAR LOCATION: Cytoplasm.
123
RAB39A
Ras-related protein Rab-39A (Rab-39) Q14964 FUNCTION: Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K . May be involved in multiple neurite formation (By similarity). Note=Recruited to phagosomes containing S.aureus or M.tuberculosis.
124
RB1CC1
RB1-inducible coiled-coil protein 1 (FAK family kinase-interacting protein of 200 kDa) (FIP200) Q8TDY2 FUNCTION: Involved in autophagy . Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 . Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (, ). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor . Is a potent regulator of the RB1 pathway through induction of RB1 expression . Plays a crucial role in muscular differentiation . Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity).
125
PURA
Transcriptional activator protein Pur-alpha (Purine-rich single-stranded DNA-binding protein alpha) Q00577 FUNCTION: This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination. SUBCELLULAR LOCATION: Nucleus.
126
PTCHD4
Patched domain-containing protein 4 (p53-regulated patched protein) Q6ZW05 FUNCTION: Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells.
127
TRAPPC2
Trafficking protein particle complex subunit 2 (Sedlin) P0DI81 FUNCTION: Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.
128
RAX
Retinal homeobox protein Rx (Retina and anterior neural fold homeobox protein) Q9Y2V3 FUNCTION: Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter. SUBCELLULAR LOCATION: Nucleus.
129
RYK
Tyrosine-protein kinase RYK (EC 2.10.1) P34925 FUNCTION: May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C-terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development.
130
SOWAHB
Ankyrin repeat domain-containing protein SOWAHB (Ankyrin repeat domain-containing protein 56) (Protein sosondowah homolog B) A6NEL2
131
SEC31B
Protein transport protein Sec31B (SEC31-like protein 2) (SEC31-related protein B) (SEC31B-1) Q9NQW1 FUNCTION: As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum.
132
SLC13A3
Solute carrier family 13 member 3 (Na(+)/dicarboxylate cotransporter 3) (NaDC-3) (hNaDC3) (Sodium-dependent high-affinity dicarboxylate transporter 2) Q8WWT9 FUNCTION: High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate . The stoichiometry is probably 3 Na(+) for 1 divalent succinate.
133
SEC11B
Putative signal peptidase complex catalytic subunit SEC11B (EC 3.21.89) (SEC11 homolog B) (SEC11-like protein 2) P0C7V7 FUNCTION: Putative component of some signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.
134
TCOF1
Treacle protein (Treacher Collins syndrome protein) Q13428 FUNCTION: Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (, ). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification .
135
TCP10L
T-complex protein 10A homolog 1 (T-complex protein 10A-1) (TCP10A-1) (TCP10-like) Q8TDR4 FUNCTION: May be involved in transcriptional regulation. Has in vitro transcription inhibition activity. Acts as a tumor suppressor in hepatocellular carcinoma (HCC) cells.
136
TECPR1
Tectonin beta-propeller repeat-containing protein 1 Q7Z6L1 FUNCTION: Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation. SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome membrane. Lysosome membrane. Note=Localizes to Lysosome membranes, and binds PtdIns(3)P at the surface of autophagosome. Localizes to autolysosomes, a vesicle formed by the fusion between autophagosomes and lysosomes.
137
UBE2C
Ubiquitin-conjugating enzyme E2 C (EC 2.2.23) ((E3-independent) E2 ubiquitin-conjugating enzyme C) (EC 2.2.24) (E2 ubiquitin-conjugating enzyme C) (UbcH10) (Ubiquitin carrier protein C) (Ubiquitin-protein ligase C) O00762 FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-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 initiating 'Lys-11'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit.
138
TRAV5
T cell receptor alpha variable 5 A0A0B4J249 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 .
139
UPK2
Uroplakin-2 (UP2) (Uroplakin II) (UPII) O00526 FUNCTION: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By similarity).
140
TRAV12-2
T cell receptor alpha variable 12-2 A0A075B6T6 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 .
141
TRBV12-4
T cell receptor beta variable 12-4 A0A0B4J2E0 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
142
USP14
Ubiquitin carboxyl-terminal hydrolase 14 (EC 3.19.12) (Deubiquitinating enzyme 14) (Ubiquitin thioesterase 14) (Ubiquitin-specific-processing protease 14) P54578 FUNCTION: Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibiting the degradation of unfolded endoplasmic reticulum proteins via interaction with ERN1. Indispensable for synaptic development and function at neuromuscular junctions (NMJs). Plays a role in the innate immune defense against viruses by stabilizing the viral DNA sensor CGAS and thus inhibiting its autophagic degradation.
143
USP36
Ubiquitin carboxyl-terminal hydrolase 36 (EC 3.19.12) (Deubiquitinating enzyme 36) (Ubiquitin thioesterase 36) (Ubiquitin-specific-processing protease 36) Q9P275 FUNCTION: Deubiquitinase essential for the regulation of nucleolar structure and function. Required for cell and organism viability. Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability (, , ). Function as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 'Lys-4' trimethylation (H3K4) . Specifically deubiquitinates MYC in the nucleolus, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 3 of FBXW7 (FBW7gamma) in the nucleolus and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm . Interacts to and regulates the actions of E3 ubiquitin-protein ligase NEDD4L over substrates such as NTRK1, KCNQ2 and KCNQ3, affecting their expression an functions . Deubiquitinates SOD2, regulates SOD2 protein stability . Deubiquitinase activity is required to control selective autophagy activation by ubiquitinated proteins .
144
WSB1
WD repeat and SOCS box-containing protein 1 (WSB-1) (SOCS box-containing WD protein SWiP-1) Q9Y6I7 FUNCTION: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation.
145
ZW10
Centromere/kinetochore protein zw10 homolog O43264 FUNCTION: Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (, , ). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER .
146
VPS26C
Vacuolar protein sorting-associated protein 26C (Down syndrome critical region protein 3) (Down syndrome critical region protein A) O14972 FUNCTION: Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) . The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes . In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling .
147
TXNRD1
Thioredoxin reductase 1, cytoplasmic (TR) (EC 1.1.9) (Gene associated with retinoic and interferon-induced mortality 12 protein) (GRIM-12) (Gene associated with retinoic and IFN-induced mortality 12 protein) (KM-102-derived reductase-like factor) (Thioredoxin reductase TR1) Q16881 FUNCTION: Isoform 1 may possess glutaredoxin activity as well as thioredoxin reductase activity and induces actin and tubulin polymerization, leading to formation of cell membrane protrusions. Isoform 4 enhances the transcriptional activity of estrogen receptors alpha and beta while isoform 5 enhances the transcriptional activity of the beta receptor only. Isoform 5 also mediates cell death induced by a combination of interferon-beta and retinoic acid.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm.
148
WDR36
WD repeat-containing protein 36 (T-cell activation WD repeat-containing protein) (TA-WDRP) Q8NI36 FUNCTION: Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2.
149
ZMAT3
Zinc finger matrin-type protein 3 (Zinc finger protein WIG-1) (p53-activated gene 608 protein) Q9HA38 FUNCTION: Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus.
150
ZNF138
Zinc finger protein 138 P52744 FUNCTION: May be involved in transcriptional regulation as a repressor. SUBCELLULAR LOCATION: Nucleus .
151
ZNF227
Zinc finger protein 227 Q86WZ6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
152
ZNF211
Zinc finger protein 211 (Zinc finger protein C2H2-25) Q13398 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
153
WEE1
Wee1-like protein kinase (WEE1hu) (EC 2.10.2) (Wee1A kinase) P30291 FUNCTION: Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation. SUBCELLULAR LOCATION: Nucleus.
154
ZNF441
Zinc finger protein 441 Q8N8Z8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
155
SLC32A1
Vesicular inhibitory amino acid transporter (GABA and glycine transporter) (Solute carrier family 32 member 1) (Vesicular GABA transporter) (hVIAAT) Q9H598 FUNCTION: Involved in the uptake of GABA and glycine into the synaptic vesicles.
156
ZNF806
Zinc finger protein 806 P0C7X5 FUNCTION: May function as a transcription factor.
157
ZNF33A
Zinc finger protein 33A (Zinc finger and ZAK-associated protein with KRAB domain) (ZZaPK) (Zinc finger protein 11A) (Zinc finger protein KOX31) Q06730 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
158
ZNF426
Zinc finger protein 426 Q9BUY5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
159
ZNF334
Zinc finger protein 334 Q9HCZ1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
160
ZNF487
Putative zinc finger protein 487 (KRAB domain only protein 1) B1APH4 FUNCTION: May be involved in transcriptional regulation.
161
ZNF460
Zinc finger protein 460 (Zinc finger protein 272) (Zinc finger protein HZF8) Q14592 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
162
ZNF704
Zinc finger protein 704 Q6ZNC4 FUNCTION: Transcription factor which binds to RE2 sequence elements in the MYOD1 enhancer.
163
ZNF777
Zinc finger protein 777 Q9ULD5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
164
ZNF843
Zinc finger protein 843 Q8N446
165
ZNF382
Zinc finger protein 382 (KRAB/zinc finger suppressor protein 1) (KS1) (Multiple zinc finger and krueppel-associated box protein KS1) Q96SR6 FUNCTION: Functions as a sequence-specific transcriptional repressor.
166
ZNF398
Zinc finger protein 398 (Zinc finger DNA-binding protein p52/p71) Q8TD17 FUNCTION: Function as a transcriptional activator. SUBCELLULAR LOCATION: Nucleus .
167
WNK3
Serine/threonine-protein kinase WNK3 (EC 2.11.1) (Protein kinase lysine-deficient 3) (Protein kinase with no lysine 3) Q9BYP7 FUNCTION: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively (, , ). Phosphorylates WNK4. Regulates the phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway . Inhibits the activity of KCNJ1 by decreasing its expression at the cell membrane in a non-catalytic manner.
168
ZNF615
Zinc finger protein 615 Q8N8J6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
169
TSPY10
Testis-specific Y-encoded protein 10 P0CW01
170
ZNF578
Zinc finger protein 578 Q96N58 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
171
ZSCAN5B
Zinc finger and SCAN domain-containing protein 5B A6NJL1 FUNCTION: May be involved in transcriptional regulation.
172
TTC9B
Tetratricopeptide repeat protein 9B (TPR repeat protein 9B) Q8N6N2
173
ZSCAN32
Zinc finger and SCAN domain-containing protein 32 (Human cervical cancer suppressor gene 5 protein) (HCCS-5) (Zinc finger protein 434) Q9NX65 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
174
TTC7B
Tetratricopeptide repeat protein 7B (TPR repeat protein 7B) (Tetratricopeptide repeat protein 7-like-1) (TPR repeat protein 7-like-1) Q86TV6 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. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions .
175
VDAC3
Voltage-dependent anion-selective channel protein 3 (VDAC-3) (hVDAC3) (Outer mitochondrial membrane protein porin 3) Q9Y277 FUNCTION: Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. SUBCELLULAR LOCATION: Mitochondrion outer membrane.
176
ERVK-24
Endogenous retrovirus group K member 24 Pro protein (HERV-K101 envelope protein) (HERV-K_22q11.21 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P63129 FUNCTION: Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.
177
VDR
Vitamin D3 receptor (VDR) (1,25-dihydroxyvitamin D3 receptor) (Nuclear receptor subfamily 1 group I member 1) P11473 FUNCTION: Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (, , , ). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR . The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes . Plays a central role in calcium homeostasis (By similarity).
178
VPREB1
Immunoglobulin iota chain (CD179 antigen-like family member A) (Protein VPreB1) (V(pre)B protein) (VpreB protein) (CD antigen CD179a) P12018 FUNCTION: Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B-cell differentiation.
179
VPS25
Vacuolar protein-sorting-associated protein 25 (hVps25) (Dermal papilla-derived protein 9) (ELL-associated protein of 20 kDa) (ESCRT-II complex subunit VPS25) Q9BRG1 FUNCTION: Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses. SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane. Nucleus, nucleoplasm. Note=Distributes diffusely throughout the cytoplasm and nucleoplasm, but exhibits a punctate distribution on coexpression with CHMP6.
180
VRK3
Inactive serine/threonine-protein kinase VRK3 (Serine/threonine-protein pseudokinase VRK3) (Vaccinia-related kinase 3) Q8IV63 FUNCTION: Inactive kinase that suppresses ERK activity by promoting phosphatase activity of DUSP3 which specifically dephosphorylates and inactivates ERK in the nucleus.
181
GC
Vitamin D-binding protein (DBP) (VDB) (Gc protein-derived macrophage activating factor) (Gc-MAF) (GcMAF) (Gc-globulin) (Group-specific component) (Gc) (Vitamin D-binding protein-macrophage activating factor) (DBP-maf) P02774 FUNCTION: Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
182
VAMP7
Vesicle-associated membrane protein 7 (VAMP-7) (Synaptobrevin-like protein 1) (Tetanus-insensitive VAMP) (Ti-VAMP) P51809 FUNCTION: Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation.
183
ZSCAN16
Zinc finger and SCAN domain-containing protein 16 (Zinc finger protein 392) (Zinc finger protein 435) Q9H4T2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
184
ZSCAN1
Zinc finger and SCAN domain-containing protein 1 Q8NBB4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
185
TTTY13
Putative transcript Y 13 protein Q9BZ97 SUBCELLULAR LOCATION: Membrane .
186
HERV-K104
Endogenous retrovirus group K member 104 Pro protein (HERV-K104 Pro protein) (HERV-K_5q13.3 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P63124 FUNCTION: Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity).
187
ATP6V0A2
V-type proton ATPase 116 kDa subunit a isoform 2 (V-ATPase 116 kDa isoform a2) (Lysosomal H(+)-transporting ATPase V0 subunit a2) (TJ6) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2) Q9Y487 FUNCTION: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation .
188
TLCD4
TLC domain-containing protein 4 (Transmembrane protein 56) Q96MV1 SUBCELLULAR LOCATION: Membrane .
189
DNTTIP2
Deoxynucleotidyltransferase terminal-interacting protein 2 (Estrogen receptor-binding protein) (LPTS-interacting protein 2) (LPTS-RP2) (Terminal deoxynucleotidyltransferase-interacting factor 2) (TdIF2) (TdT-interacting factor 2) Q5QJE6 FUNCTION: Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein.
190
TMEM155
Protein TMEM155 Q4W5P6 SUBCELLULAR LOCATION: Secreted .
191
SNRNP200
U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.4.13) (Activating signal cointegrator 1 complex subunit 3-like 1) (BRR2 homolog) (U5 snRNP-specific 200 kDa protein) (U5-200KD) O75643 FUNCTION: Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (, , , , , , , ). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.
192
UMODL1
Uromodulin-like 1 (Olfactorin) Q5DID0 SUBCELLULAR LOCATION: Cell membrane .; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm.
193
USE1
Vesicle transport protein USE1 (Putative MAPK-activating protein PM26) (USE1-like protein) (p31) Q9NZ43 FUNCTION: SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.
194
UBE2G2
Ubiquitin-conjugating enzyme E2 G2 (EC 2.2.23) (E2 ubiquitin-conjugating enzyme G2) (Ubiquitin carrier protein G2) (Ubiquitin-protein ligase G2) P60604 FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Involved in endoplasmic reticulum-associated degradation (ERAD).
195
TRBV13
T cell receptor beta variable 13 A0A0A6YYD4 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
196
UBN2
Ubinuclein-2 Q6ZU65
197
TEX13A
Testis-expressed protein 13A Q9BXU3
198
ZBTB17
Zinc finger and BTB domain-containing protein 17 (Myc-interacting zinc finger protein 1) (Miz-1) (Zinc finger protein 151) (Zinc finger protein 60) Q13105 FUNCTION: Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 .
199
ZBTB12
Zinc finger and BTB domain-containing protein 12 (Protein G10) Q9Y330 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
200
UCN3
Urocortin-3 (Stresscopin) (Urocortin III) (Ucn III) Q969E3 FUNCTION: Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress. SUBCELLULAR LOCATION: Secreted.
201
UGT1A10
UDP-glucuronosyltransferase 1-10 (UDPGT 1-10) (UGT1*10) (UGT1-10) (UGT1.10) (EC 2.1.17) (UDP-glucuronosyltransferase 1-J) (UGT-1J) (UGT1J) (UDP-glucuronosyltransferase 1A10) Q9HAW8 FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.
202
UGT2A1
UDP-glucuronosyltransferase 2A1 (UDPGT 2A1) (EC 2.1.17) Q9Y4X1 FUNCTION: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium.
203
AXL
Tyrosine-protein kinase receptor UFO (EC 2.10.1) (AXL oncogene) P30530 FUNCTION: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, ALX binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates for AXL are CBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 and phosphatidylinositol 3 kinase regulatory subunits by AXL leads to the downstream activation of the AKT kinase. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response.
204
VWA1
von Willebrand factor A domain-containing protein 1 Q6PCB0 FUNCTION: Promotes matrix assembly.
205
TIMM9
Mitochondrial import inner membrane translocase subunit Tim9 Q9Y5J7 FUNCTION: Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be 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.
206
TCTA
T-cell leukemia translocation-altered gene protein (T-cell leukemia translocation-associated gene protein) P57738 FUNCTION: May be required for cellular fusion during osteoclastogenesis.
207
ZNF587B
Zinc finger protein 587B E7ETH6 FUNCTION: May be involved in transcriptional regulation.
208
WDR31
WD repeat-containing protein 31 Q8NA23
209
ZMIZ2
Zinc finger MIZ domain-containing protein 2 (PIAS-like protein Zimp7) Q8NF64 FUNCTION: Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors. Note=Detected at replication foci throughout S phase.
210
ZNF155
Zinc finger protein 155 Q12901 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
211
SLC46A2
Thymic stromal cotransporter homolog (Solute carrier family 46 member 2) Q9BY10 FUNCTION: May act as a transporter.
212
ZNF408
Zinc finger protein 408 (PR domain zinc finger protein 17) Q9H9D4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
213
ZNF595
Zinc finger protein 595 Q8IYB9 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
214
ZNF563
Zinc finger protein 563 Q8TA94 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
215
ZNF628
Zinc finger protein 628 Q5EBL2 FUNCTION: Transcription activator. Binds DNA on GT-box consensus sequence 5'-TTGGTT-3' (By similarity).
216
ZNF30
Zinc finger protein 30 (Zinc finger protein KOX28) P17039 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
217
ZNF623
Zinc finger protein 623 O75123 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
218
ZNF660
Zinc finger protein 660 Q6AZW8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
219
YTHDF3
YTH domain-containing family protein 3 Q7Z739 FUNCTION: Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs and promotes RNA translation efficiency (, , ). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (, , , , ). Shares m6A-containing mRNAs targets with YTHDF1 and YTHDF2, and regulates different processes depending on the context (, ). Facilitates the translation of targeted mRNAs in cooperation with YTHDF1 by binding to m6A-containing mRNAs and interacting with 40S and 60S ribosome subunits (, ). Acts as a negative regulator of type I interferon response by down-regulating interferon-stimulated genes (ISGs) expression: acts by binding to FOXO3 mRNAs and promoting their translation. Binds to FOXO3 mRNAs independently of METTL3-mediated m6A modification (By similarity). Can also act as a regulator of mRNA stability in cooperation with YTHDF2 by binding to m6A-containing mRNA and promoting their degradation . Recognizes and binds m6A-containing circular RNAs (circRNAs) and promotes their translation . circRNAs are generated through back-splicing of pre-mRNAs, a non-canonical splicing process promoted by dsRNA structures across circularizing exons .
220
TTC14
Tetratricopeptide repeat protein 14 (TPR repeat protein 14) Q96N46
221
TTC23
Tetratricopeptide repeat protein 23 (TPR repeat protein 23) (Cervical cancer proto-oncogene 8 protein) (HCC-8) Q5W5X9 FUNCTION: Participates positively in the ciliary Hedgehog (Hh) signaling.
222
XAGE2
X antigen family member 2 (XAGE-2) (Cancer/testis antigen 12.2) (CT12.2) (G antigen family D member 3) Q96GT9
223
XAGE5
X antigen family member 5 (XAGE-5) (Cancer/testis antigen 12.5) (CT12.5) (G antigen family D member 5) Q8WWM1
224
TTYH3
Protein tweety homolog 3 (hTTY3) Q9C0H2 FUNCTION: Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction.
225
ATP6AP1L
V-type proton ATPase subunit S1-like protein (Vacuolar proton pump subunit S1-like protein) Q52LC2 SUBCELLULAR LOCATION: Membrane .
226
ATP6V1F
V-type proton ATPase subunit F (V-ATPase subunit F) (V-ATPase 14 kDa subunit) (Vacuolar proton pump subunit F) Q16864 FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
227
ATP6V1G3
V-type proton ATPase subunit G 3 (V-ATPase subunit G 3) (V-ATPase 13 kDa subunit 3) (Vacuolar proton pump subunit G 3) Q96LB4 FUNCTION: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
228
TICAM1
TIR domain-containing adapter molecule 1 (TICAM-1) (Proline-rich, vinculin and TIR domain-containing protein B) (Putative NF-kappa-B-activating protein 502H) (Toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta) (MyD88-3) (TIR domain-containing adapter protein inducing IFN-beta) Q8IUC6 FUNCTION: Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis (, , ). Ligand binding to these receptors results in TRIF recruitment through its TIR domain (, , ). Distinct protein-interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively (, , ). Phosphorylation by TBK1 on the pLxIS motif leads to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent immunity against invading pathogens . Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines (By similarity).
229
ZBTB40
Zinc finger and BTB domain-containing protein 40 Q9NUA8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
230
ZBTB14
Zinc finger and BTB domain-containing protein 14 (Zinc finger protein 161 homolog) (Zfp-161) (Zinc finger protein 478) (Zinc finger protein 5 homolog) (ZF5) (Zfp-5) (hZF5) O43829 FUNCTION: Transcriptional activator of the dopamine transporter (DAT), binding it's promoter at the consensus sequence 5'-CCTGCACAGTTCACGGA-3'. Binds to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters. Note=Colocalizes with ZBTB21 in nucleus in HEK293 cells.
231
UCP2
Mitochondrial uncoupling protein 2 (UCP 2) (Solute carrier family 25 member 8) (UCPH) P55851 FUNCTION: UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
232
UCN
Urocortin P55089 FUNCTION: Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH) . Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta . Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity). SUBCELLULAR LOCATION: Secreted.
233
UBXN7
UBX domain-containing protein 7 O94888 FUNCTION: Ubiquitin-binding adapter that links a subset of NEDD8-associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates.
234
ZBTB39
Zinc finger and BTB domain-containing protein 39 O15060 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
235
ZC3H4
Zinc finger CCCH domain-containing protein 4 Q9UPT8
236
ZCCHC12
Zinc finger CCHC domain-containing protein 12 (Smad-interacting zinc finger protein 1) Q6PEW1 FUNCTION: Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity).
237
UGT2A3
UDP-glucuronosyltransferase 2A3 (UDPGT 2A3) (EC 2.1.17) Q6UWM9 FUNCTION: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).
238
ZEB1
Zinc finger E-box-binding homeobox 1 (NIL-2-A zinc finger protein) (Negative regulator of IL2) (Transcription factor 8) (TCF-8) P37275 FUNCTION: Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.
239
ZFYVE16
Zinc finger FYVE domain-containing protein 16 (Endofin) (Endosome-associated FYVE domain protein) Q7Z3T8 FUNCTION: May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes. Note=Localized to early endosomes. Membrane-associated, probably via its association with phosphatidylinositol 3-phosphate (PI3P).
240
TAS1R3
Taste receptor type 1 member 3 (Sweet taste receptor T1R3) Q7RTX0 FUNCTION: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
241
ZKSCAN4
Zinc finger protein with KRAB and SCAN domains 4 (P373c6.1) (Zinc finger protein 307) (Zinc finger protein 427) Q969J2 FUNCTION: May be involved in the transcriptional activation of MDM2 and EP300 genes.
242
WDR78
WD repeat-containing protein 78 Q5VTH9
243
VGLL3
Transcription cofactor vestigial-like protein 3 (Vgl-3) A8MV65 FUNCTION: May act as a specific coactivator for the mammalian TEFs.
244
ZNF266
Zinc finger protein 266 (Zinc finger protein HZF1) Q14584 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
245
WFDC8
WAP four-disulfide core domain protein 8 (Putative protease inhibitor WAP8) Q8IUA0 SUBCELLULAR LOCATION: Secreted .
246
ZNF737
Zinc finger protein 737 (Zinc finger protein 102) O75373 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
247
ZNF415
Zinc finger protein 415 Q09FC8 FUNCTION: Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP-1 and p53/TP53. Note=Isoforms 1, isoform 2, isoform 4 and isoform 5 showed both nuclear and cytoplasm localization. Isoform 3 localized only to nucleus.
248
ZNF432
Zinc finger protein 432 O94892 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
249
HDLBP
Vigilin (High density lipoprotein-binding protein) (HDL-binding protein) Q00341 FUNCTION: Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol. SUBCELLULAR LOCATION: Cytoplasm .
250
ZNF696
Zinc finger protein 696 Q9H7X3 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
251
ZNF829
Zinc finger protein 829 Q3KNS6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
252
ZNF490
Zinc finger protein 490 Q9ULM2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
253
ZNF707
Zinc finger protein 707 Q96C28 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
254
ZNF702P
Putative zinc finger protein 702 Q9H963 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
255
ZNF875
Zinc finger protein 875 (Krueppel-related zinc finger protein 1) (Protein HKR1) P10072 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
256
ZNF852
Zinc finger protein 852 Q6ZMS4 FUNCTION: May be involved in transcriptional regulation.
257
ZNF865
Zinc finger protein 865 P0CJ78 FUNCTION: May be involved in transcriptional regulation.
258
WRAP73
WD repeat-containing protein WRAP73 (WD repeat-containing protein 8) (WD repeat-containing protein antisense to TP73 gene) Q9P2S5 FUNCTION: The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology . Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal body during ciliogenesis; may promote docking of RAB8A- and ARL13B-containing vesicles .
259
TCP10L2
T-complex protein 10A homolog 2 (T-complex 10-like protein 2) B9ZVM9
260
TRBJ1-5
T cell receptor beta joining 1-5 A0A0J9YXM7 FUNCTION: J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
261
TCEA2
Transcription elongation factor A protein 2 (Testis-specific S-II) (Transcription elongation factor S-II protein 2) (Transcription elongation factor TFIIS.l) Q15560 FUNCTION: Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus. SUBCELLULAR LOCATION: Nucleus.
262
USH2A
Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein) O75445 FUNCTION: Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted.
263
UBAC2
Ubiquitin-associated domain-containing protein 2 (UBA domain-containing protein 2) (Phosphoglycerate dehydrogenase-like protein 1) Q8NBM4 FUNCTION: Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets . In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 .
264
UTP23
rRNA-processing protein UTP23 homolog Q9BRU9 FUNCTION: Involved in rRNA-processing and ribosome biogenesis.
265
TUSC3
Tumor suppressor candidate 3 (Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3) (Oligosaccharyl transferase subunit TUSC3) (Magnesium uptake/transporter TUSC3) (Protein N33) Q13454 FUNCTION: Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.
266
WNT7A
Protein Wnt-7a O00755 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development . Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation . Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity).
267
ZNF658B
Zinc finger protein 658B Q4V348 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
268
WDCP
WD repeat and coiled-coil-containing protein Q9H6R7
269
VXN
Vexin Q8TAG6 FUNCTION: Required for neurogenesis in the neural plate and retina. Strongly cooperates with neural bHLH factors to promote neurogenesis.
270
ZNF770
Zinc finger protein 770 Q6IQ21 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
271
ZNF766
Zinc finger protein 766 Q5HY98 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
272
ZNF451
E3 SUMO-protein ligase ZNF451 (EC 2.2.-) (Coactivator for steroid receptors) (E3 SUMO-protein transferase ZNF451) (Zinc finger protein 451) Q9Y4E5 FUNCTION: E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (, ). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 . Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site 'Lys-11' . Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated acetylation of histone H3 at 'Lys-9' . Plays a role in regulating the transcription of AR targets .
273
ZNF716
Zinc finger protein 716 A6NP11 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
274
UNG
Uracil-DNA glycosylase (UDG) (EC 3.2.27) P13051 FUNCTION: Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus.
275
ZNF26
Zinc finger protein 26 (Zinc finger protein KOX20) P17031 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
276
ZNF497
Zinc finger protein 497 Q6ZNH5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
277
ZNF605
Zinc finger protein 605 Q86T29 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
278
ZNF726P1
Putative zinc finger protein 726P1 Q15940
279
ZNF83
Zinc finger protein 83 (Zinc finger protein 816B) (Zinc finger protein HPF1) P51522 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
280
ZNF556
Zinc finger protein 556 Q9HAH1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
281
ZSWIM7
Zinc finger SWIM domain-containing protein 7 (SWIM domain-containing and Srs2-interacting protein 1 homolog) (SWIM-type zinc finger domain-containing protein 7) Q19AV6 FUNCTION: Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents.
282
ZXDB
Zinc finger X-linked protein ZXDB P98169 FUNCTION: Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes.
283
ZSCAN31
Zinc finger and SCAN domain-containing protein 31 (Zinc finger protein 323) Q96LW9 FUNCTION: May function as a transcription factor. May be involved in the development of multiple embryonic organs. SUBCELLULAR LOCATION: Nucleus .
284
ZSCAN10
Zinc finger and SCAN domain-containing protein 10 (Zinc finger protein 206) Q96SZ4 FUNCTION: Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4.
285
SLC18A2
Synaptic vesicular amine transporter (Monoamine transporter) (Solute carrier family 18 member 2) (Vesicular amine transporter 2) (VAT2) Q05940 FUNCTION: Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles . Requisite for vesicular amine storage prior to secretion via exocytosis. SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein.
286
TAF5
Transcription initiation factor TFIID subunit 5 (Transcription initiation factor TFIID 100 kDa subunit) (TAF(II)100) (TAFII-100) (TAFII100) Q15542 FUNCTION: TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. TAF5/TAFII100 interacts strongly with the histone H4-related TAF6/TAFII80 and the histone H3-related TAF9/TAFII31, as well as a stable complex comprised of both TAF5/TAFII80 and TAF6/TAFII31. Apparently weaker interactions of TAF5/TAFII100 with TBP, TAF1/TAFII250, TAF11/TAFII28, and TAF12/TAFII20, but not TAF7/TAFII55, also have been observed. SUBCELLULAR LOCATION: Nucleus.
287
SIAE
Sialate O-acetylesterase (EC 3.1.53) (H-Lse) (Sialic acid-specific 9-O-acetylesterase) Q9HAT2 FUNCTION: Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid. SUBCELLULAR LOCATION: Lysosome . Secreted.
288
CCT7
T-complex protein 1 subunit eta (TCP-1-eta) (CCT-eta) (HIV-1 Nef-interacting protein) [Cleaved into: T-complex protein 1 subunit eta, N-terminally processed] Q99832 FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis . The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance . The TRiC complex plays a role in the folding of actin and tubulin (Probable).
289
TULP4
Tubby-related protein 4 (Tubby superfamily protein) (Tubby-like protein 4) Q9NRJ4 FUNCTION: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. SUBCELLULAR LOCATION: Cytoplasm.
290
TSPYL6
Testis-specific Y-encoded-like protein 6 (TSPY-like protein 6) Q8N831
291
TRAV10
T cell receptor alpha variable 10 A0A0B4J240 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 .
292
YY1AP1
YY1-associated protein 1 (Hepatocellular carcinoma susceptibility protein) (Hepatocellular carcinoma-associated protein 2) Q9H869 FUNCTION: Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication . Enhances transcription activation by YY1 . Plays a role in cell cycle regulation (, ).
293
TXK
Tyrosine-protein kinase TXK (EC 2.10.2) (Protein-tyrosine kinase 4) (Resting lymphocyte kinase) P42681 FUNCTION: Non-receptor tyrosine kinase that plays a redundant role with ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of TXK to the cell membrane, where it is phosphorylated at Tyr-420. Phosphorylation leads to TXK full activation. Contributes also to signaling from many receptors and participates in multiple downstream pathways, including regulation of the actin cytoskeleton. Like ITK, can phosphorylate PLCG1, leading to its localization in lipid rafts and activation, followed by subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. With PARP1 and EEF1A1, TXK forms a complex that acts as a T-helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFNG to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production. Phosphorylates both PARP1 and EEF1A1. Phosphorylates also key sites in LCP2 leading to the up-regulation of Th1 preferred cytokine IL-2. Phosphorylates 'Tyr-201' of CTLA4 which leads to the association of PI-3 kinase with the CTLA4 receptor. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after receptor stimulation. Translocates into the nucleus and enhances IFN-gamma gene transcription in T-cells.
294
ZER1
Protein zer-1 homolog (Hzyg) (Zyg-11 homolog B-like protein) (Zyg11b-like protein) Q7Z7L7 FUNCTION: Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC (, ). Acts redudantly with ZYG11B to target substrates bearing N-terminal glycine degrons for proteasomal degradation. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation .
295
WBP11
WW domain-binding protein 11 (WBP-11) (Npw38-binding protein) (NpwBP) (SH3 domain-binding protein SNP70) (Splicing factor that interacts with PQBP-1 and PP1) Q9Y2W2 FUNCTION: Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly located in the nucleus with granular heterogeneous distribution. Excluded from nucleoli in interphase cells, distributed throughout cytoplasm in dividing cells. Colocalized with SC35 and U2B in the nucleus. In the cytoplasm, associates with the intermediate filament protein vimentin.
296
WASHC5
WASH complex subunit 5 (Strumpellin) (WASH complex subunit strumpellin) Q12768 FUNCTION: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (, ). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 . Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 .
297
ZNF107
Zinc finger protein 107 (Zinc finger protein 588) (Zinc finger protein ZFD25) Q9UII5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
298
ZNF169
Zinc finger protein 169 Q14929 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
299
ZNF195
Zinc finger protein 195 O14628 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
300
WDR82
WD repeat-containing protein 82 (Protein TMEM113) (Swd2) Q6UXN9 FUNCTION: Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 'Lys-4' methylation via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Note=Associates with chromatin.
301
WDR76
WD repeat-containing protein 76 Q9H967 FUNCTION: Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.
302
WDR6
WD repeat-containing protein 6 Q9NNW5 FUNCTION: Enhances the STK11/LKB1-induced cell growth suppression activity. Negative regulator of amino acid starvation-induced autophagy. Note=Colocalizes in the cytoplasm with STK11/LKB1.
303
WDR88
WD repeat-containing protein 88 (PQQ repeat and WD repeat-containing protein) Q6ZMY6
304
ZNF771
Zinc finger protein 771 (Mesenchymal stem cell protein DSC43) Q7L3S4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
305
ZNF681
Zinc finger protein 681 Q96N22 FUNCTION: May be involved in transcriptional regulation.
306
ZNF676
Zinc finger protein 676 Q8N7Q3 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
307
ZNF720
Putative protein ZNF720 Q7Z2F6
308
ZNF835
Zinc finger protein 835 Q9Y2P0 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
309
ZNF12
Zinc finger protein 12 (Gonadotropin-inducible ovary transcription repressor 3) (GIOT-3) (Zinc finger protein 325) (Zinc finger protein KOX3) P17014 FUNCTION: Transcriptional repressor which suppresses activation protein 1 (AP-1)- and serum response element (SRE)-mediated transcriptional activity.
310
ZNF836
Zinc finger protein 836 Q6ZNA1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
311
VPS4B
Vacuolar protein sorting-associated protein 4B (EC 3.4.6) (Cell migration-inducing gene 1 protein) (Suppressor of K(+) transport growth defect 1) (Protein SKD1) O75351 FUNCTION: Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. 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. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan . Note=Membrane-associated in the prevacuolar endosomal compartment. Localized in HIV-1 particles purified from acutely infected cells.
312
VSTM2L
V-set and transmembrane domain-containing protein 2-like protein Q96N03
313
VAMP5
Vesicle-associated membrane protein 5 (VAMP-5) (Myobrevin) O95183 FUNCTION: May participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or GLUT4 trafficking. SUBCELLULAR LOCATION: Cell membrane .
314
TTLL5
Tubulin polyglutamylase TTLL5 (EC 6.-.-) (SRC1 and TIF2-associated modulatory protein) (Tubulin--tyrosine ligase-like protein 5) Q6EMB2 FUNCTION: Polyglutamylase which preferentially modifies alpha-tubulin (By similarity). Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules . Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction .
315
TTTY10
Putative transcript Y 10 protein Q9BZA0
316
ERVK-7
Endogenous retrovirus group K member 7 Pro protein (HERV-K(III) Pro protein) (HERV-K102 Pro protein) (HERV-K_1q22 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P63131 FUNCTION: Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.
317
VPS45
Vacuolar protein sorting-associated protein 45 (h-VPS45) (hlVps45) Q9NRW7 FUNCTION: May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network. SUBCELLULAR LOCATION: Golgi apparatus membrane .
318
VSIG8
V-set and immunoglobulin domain-containing protein 8 P0DPA2 SUBCELLULAR LOCATION: Membrane .
319
SBK3
Uncharacterized serine/threonine-protein kinase SBK3 (EC 2.11.1) (SH3-binding domain kinase family member 3) (Sugen kinase 110) P0C264
320
SIGLEC9
Sialic acid-binding Ig-like lectin 9 (Siglec-9) (CDw329) (Protein FOAP-9) (CD antigen CD329) Q9Y336 FUNCTION: Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
321
SULT1A4
Sulfotransferase 1A4 (ST1A4) (EC 2.2.1) (Aryl sulfotransferase 1A3/1A4) (Sulfotransferase 1A3/1A4) P0DMN0 FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs. SUBCELLULAR LOCATION: Cytoplasm.
322
ST20
Suppressor of tumorigenicity 20 protein (Human cervical cancer suppressor gene 1 protein) (HCCS-1) Q9HBF5 FUNCTION: May act as a tumor suppressor. Promotes apoptosis of cancer cells.
323
SLC15A5
Solute carrier family 15 member 5 A6NIM6 FUNCTION: Proton oligopeptide cotransporter.
324
TPMT
Thiopurine S-methyltransferase (EC 2.1.67) (Thiopurine methyltransferase) P51580 FUNCTION: Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) and 6-thioguanine (also called tioguanine or 6-TG) using S-adenosyl-L-methionine as the methyl donor (, ). TPMT activity modulates the cytotoxic effects of thiopurine prodrugs. A natural substrate for this enzyme has yet to be identified. SUBCELLULAR LOCATION: Cytoplasm.
325
SEC14L2
SEC14-like protein 2 (Alpha-tocopherol-associated protein) (TAP) (hTAP) (Squalene transfer protein) (Supernatant protein factor) (SPF) O76054 FUNCTION: Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of alpha-tocopherol.
326
USP37
Ubiquitin carboxyl-terminal hydrolase 37 (EC 3.19.12) (Deubiquitinating enzyme 37) (Ubiquitin thioesterase 37) (Ubiquitin-specific-processing protease 37) Q86T82 FUNCTION: Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) . Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 .
327
USP31
Ubiquitin carboxyl-terminal hydrolase 31 (EC 3.19.12) (Deubiquitinating enzyme 31) (Ubiquitin thioesterase 31) (Ubiquitin-specific-processing protease 31) Q70CQ4 FUNCTION: May recognize and hydrolyze 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 (By similarity).
328
TPSB2
Tryptase beta-2 (Tryptase-2) (EC 3.21.59) (Tryptase II) P20231 FUNCTION: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. SUBCELLULAR LOCATION: Secreted. Note=Released from the secretory granules upon mast cell activation.
329
ZIC1
Zinc finger protein ZIC 1 (Zinc finger protein 201) (Zinc finger protein of the cerebellum 1) Q15915 FUNCTION: Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity).
330
ZNF250
Zinc finger protein 250 (Zinc finger protein 647) P15622 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
331
ZNF143
Zinc finger protein 143 (SPH-binding factor) (Selenocysteine tRNA gene transcription-activating factor) (hStaf) P52747 FUNCTION: Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8.
332
WDTC1
WD and tetratricopeptide repeats protein 1 Q8N5D0 FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
333
ZNF384
Zinc finger protein 384 (CAG repeat protein 1) (CAS-interacting zinc finger protein) (Nuclear matrix transcription factor 4) (Nuclear matrix protein 4) (Trinucleotide repeat-containing gene 1 protein) Q8TF68 FUNCTION: Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity).
334
WFDC12
WAP four-disulfide core domain protein 12 (Putative protease inhibitor WAP12) (Whey acidic protein 2) Q8WWY7 FUNCTION: Antibacterial protein. Putative acid-stable proteinase inhibitor. SUBCELLULAR LOCATION: Secreted .
335
ZNF684
Zinc finger protein 684 Q5T5D7 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
336
ZNF799
Zinc finger protein 799 (Zinc finger protein 842) Q96GE5 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
337
WFDC11
Protein WFDC11 Q8NEX6 SUBCELLULAR LOCATION: Secreted .
338
TRNAU1AP
tRNA selenocysteine 1-associated protein 1 (SECp43) (tRNA selenocysteine-associated protein 1) Q9NX07 FUNCTION: Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity).
339
ZNF329
Zinc finger protein 329 Q86UD4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
340
VIM
Vimentin P08670 FUNCTION: Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally.
341
VCL
Vinculin (Metavinculin) (MV) P18206 FUNCTION: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
342
ZNF584
Zinc finger protein 584 Q8IVC4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
343
ZNF35
Zinc finger protein 35 (Zinc finger protein HF.10) P13682 FUNCTION: May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation. SUBCELLULAR LOCATION: Nucleus .
344
ZNF28
Zinc finger protein 28 (Zinc finger protein KOX24) P17035 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
345
TSPAN33
Tetraspanin-33 (Tspan-33) (Penumbra) (hPen) (Proerythroblast new membrane) Q86UF1 FUNCTION: Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (, ). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity . Mediates docking of ADAM10 to zonula adherens by interacting with ADAM10 and, in a PDZD11-dependent manner, with the zonula adherens protein PLEKHA7 .
346
TSPAN15
Tetraspanin-15 (Tspan-15) (Tetraspan NET-7) (Transmembrane 4 superfamily member 15) O95858 FUNCTION: Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10 (, ). Promotes ADAM10-mediated cleavage of CDH2 (By similarity). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity .
347
ZNF618
Zinc finger protein 618 Q5T7W0 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
348
TSPAN7
Tetraspanin-7 (Tspan-7) (Cell surface glycoprotein A15) (Membrane component chromosome X surface marker 1) (T-cell acute lymphoblastic leukemia-associated antigen 1) (TALLA-1) (Transmembrane 4 superfamily member 2) (CD antigen CD231) P41732 FUNCTION: May be involved in cell proliferation and cell motility. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
349
ZFP62
Zinc finger protein 62 homolog (Zfp-62) Q8NB50 FUNCTION: May play a role in differentiating skeletal muscle.
350
UHRF1
E3 ubiquitin-protein ligase UHRF1 (EC 2.2.27) (Inverted CCAAT box-binding protein of 90 kDa) (Nuclear protein 95) (Nuclear zinc finger protein Np95) (HuNp95) (hNp95) (RING finger protein 106) (RING-type E3 ubiquitin transferase UHRF1) (Transcription factor ICBP90) (Ubiquitin-like PHD and RING finger domain-containing protein 1) (hUHRF1) (Ubiquitin-like-containing PHD and RING finger domains protein 1) Q96T88 FUNCTION: Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3 ubiquitin-protein ligase activity is related to its role in chromatin in vivo. May be involved in DNA repair. Note=Localizes to replication foci. Enriched in pericentric heterochromatin. Also localizes to euchromatic regions.
351
ZHX3
Zinc fingers and homeoboxes protein 3 (Triple homeobox protein 1) (Zinc finger and homeodomain protein 3) Q9H4I2 FUNCTION: Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA.
352
USP17L12
Ubiquitin carboxyl-terminal hydrolase 17-like protein 12 (EC 3.19.12) C9JPN9 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
353
ZNF821
Zinc finger protein 821 O75541 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
354
ZNF445
Zinc finger protein 445 (ZFP445) (Zinc finger protein 168) (Zinc finger protein with KRAB and SCAN domains 15) P59923 FUNCTION: Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) . Acts together with ZFP57, but seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance .
355
TSHZ1
Teashirt homolog 1 (Antigen NY-CO-33) (Serologically defined colon cancer antigen 33) Q6ZSZ6 FUNCTION: Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).
356
ZNF25
Zinc finger protein 25 (Zinc finger protein KOX19) P17030 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
357
ZNF493
Zinc finger protein 493 Q6ZR52 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
358
ZNF510
Zinc finger protein 510 Q9Y2H8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
359
ZNF16
Zinc finger protein 16 (Zinc finger protein KOX9) P17020 FUNCTION: Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Plays also a role as an inhibitor of cell apoptosis.
360
ZNF524
Zinc finger protein 524 Q96C55 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
361
ZNF749
Zinc finger protein 749 O43361 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
362
ZNF34
Zinc finger protein 34 (Zinc finger protein KOX32) Q8IZ26 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
363
ZNF594
Zinc finger protein 594 (Zinc finger protein HZF18) Q96JF6 FUNCTION: May be involved in transcriptional regulation.
364
ZNF85
Zinc finger protein 85 (Zinc finger protein HPF4) (Zinc finger protein HTF1) Q03923 FUNCTION: May be a transcriptional repressor.
365
ZNF79
Zinc finger protein 79 (ZNFpT7) Q15937 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
366
ZNHIT1
Zinc finger HIT domain-containing protein 1 (Cyclin-G1-binding protein 1) (Zinc finger protein subfamily 4A member 1) (p18 Hamlet) O43257 FUNCTION: Seems to play a role in p53-mediated apoptosis induction . Binds to NR1D2 and relieves it of its inhibitory effect on the transcription of APOC3 without affecting its DNA-binding activity .
367
WDR45B
WD repeat domain phosphoinositide-interacting protein 3 (WIPI-3) (WD repeat-containing protein 45-like) (WDR45-like protein) (WD repeat-containing protein 45B) (WIPI49-like protein) Q5MNZ6 FUNCTION: Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation . Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 . In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway .
368
YTHDF2
YTH domain-containing family protein 2 (CLL-associated antigen KW-14) (High-glucose-regulated protein 8) (Renal carcinoma antigen NY-REN-2) Q9Y5A9 FUNCTION: Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates mRNA stability (, , ). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (, , , ). Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT and ribonuclease P/MRP complexes, depending on the context (, , , ). M6A-containing mRNAs containing a binding site for RIDA/HRSP12 (5'-GGUUC-3') are preferentially degraded by endoribonucleolytic cleavage: cooperative binding of RIDA/HRSP12 and YTHDF2 to transcripts leads to recruitment of the ribonuclease P/MRP complex . Other m6A-containing mRNAs undergo deadenylation via direct interaction between YTHDF2 and CNOT1, leading to recruitment of the CCR4-NOT and subsequent deadenylation of m6A-containing mRNAs . Required maternally to regulate oocyte maturation: probably acts by binding to m6A-containing mRNAs, thereby regulating maternal transcript dosage during oocyte maturation, which is essential for the competence of oocytes to sustain early zygotic development (By similarity). Also involved in hematopoietic stem cells specification by binding to m6A-containing mRNAs, leading to promote their degradation . Also acts as a regulator of neural development by promoting m6A-dependent degradation of neural development-related mRNA targets (By similarity). Regulates circadian regulation of hepatic lipid metabolism: acts by promoting m6A-dependent degradation of PPARA transcripts . Regulates the innate immune response to infection by inhibiting the type I interferon response: acts by binding to m6A-containing IFNB transcripts and promoting their degradation . Also acts as a promoter of cap-independent mRNA translation following heat shock stress: upon stress, relocalizes to the nucleus and specifically binds mRNAs with some m6A methylation mark at their 5'-UTR, protecting demethylation of mRNAs by FTO, thereby promoting cap-independent mRNA translation .
369
TTLL9
Probable tubulin polyglutamylase TTLL9 (EC 6.-.-) (Tubulin--tyrosine ligase-like protein 9) Q3SXZ7 FUNCTION: Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Acts when complexed with other proteins. By mediating tubulin polyglutamylation, plays a role in the establishment of microtubule heterogeneity in sperm flagella.
370
WWC3
Protein WWC3 Q9ULE0
371
VN1R3
Vomeronasal type-1 receptor 3 (V1r-like receptor 3) Q9BXE9 FUNCTION: Putative pheromone receptor. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
372
VCY; VCY1B
Testis-specific basic protein Y 1 (Basic charge, Y-linked 1) (Variably charged protein Y) O14598 FUNCTION: May mediate a process in spermatogenesis or may play a role in sex ratio distortion.
373
YPEL1
Protein yippee-like 1 O60688 FUNCTION: May play a role in epithelioid conversion of fibroblasts. SUBCELLULAR LOCATION: Nucleus .
374
YPEL2
Protein yippee-like 2 Q96QA6 SUBCELLULAR LOCATION: Nucleus, nucleolus .
375
VPS72
Vacuolar protein sorting-associated protein 72 homolog (Protein YL-1) (Transcription factor-like 1) Q15906 FUNCTION: Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.
376
VSX2
Visual system homeobox 2 (Ceh-10 homeodomain-containing homolog) (Homeobox protein CHX10) P58304 FUNCTION: Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters . Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Mediates differentiation of V2a interneurons by repression of motor neuron gene transcription, via competitively binding to response elements that are activated by the ISL1-LHX3 complex, such as VSX1 (, ). Acts as a positive transcriptional regulator of NXNL1; regulation is significantly increased in synergy with VSX1 (By similarity). Acts as a negative transcriptional regulator of MITF (By similarity). Represses SAG transcription by competitive inhibition of ISL1-LHX3 response elements (, ). Binds to the photoreceptor conserved element-1 (PCE-1) in the promoter of rod photoreceptor arrestin SAG and acts as a transcriptional repressor (By similarity). Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Involved in the development of retinal ganglion cells (RGCs) which leads to release of SHH by RGCs, promoting Hedgehog signaling and subsequent proliferation of retinal progenitor cells (By similarity). Participates in the development of the cells of the inner nuclear layer, by promoting postnatal differentiation of bipolar cells with a comparable inhibition of rod cell differentiation (By similarity). May play a role in the maintenance of neural retina identity during development by regulation of canonical Wnt genes and CTNNB1 localization, suggesting a role in the regulation of canonical Wnt signaling .
377
VSTM4
V-set and transmembrane domain-containing protein 4 [Cleaved into: Peptide Lv] Q8IW00 FUNCTION: Peptide Lv enhances L-type voltage-gated calcium channel (L-VGCC) currents in retinal photoreceptors.
378
TTLL2
Probable tubulin polyglutamylase TTLL2 (EC 6.-.-) (Testis-specific protein NYD-TSPG) (Tubulin--tyrosine ligase-like protein 2) Q9BWV7 FUNCTION: Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity).
379
ZFPL1
Zinc finger protein-like 1 (Zinc finger protein MCG4) O95159 FUNCTION: Required for cis-Golgi integrity and efficient ER to Golgi transport. Involved in the maintenance of the integrity of the cis-Golgi, possibly via its interaction with GOLGA2/GM130.
380
ULBP2
UL16-binding protein 2 (ALCAN-alpha) (NKG2D ligand 2) (N2DL-2) (NKG2DL2) (Retinoic acid early transcript 1H) Q9BZM5 FUNCTION: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.
381
ZNF131
Zinc finger protein 131 P52739 FUNCTION: Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling. Note=Sumoylation does not affect nuclear localization.
382
ZNF230
Zinc finger protein 230 (Zinc finger protein FDZF2) Q9UIE0 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
383
ZNF273
Zinc finger protein 273 (Zinc finger protein HZF9) Q14593 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
384
WFDC1
WAP four-disulfide core domain protein 1 (Prostate stromal protein ps20) (ps20 growth inhibitor) Q9HC57 FUNCTION: Has growth inhibitory activity.
385
VIL1
Villin-1 P09327 FUNCTION: Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination.
386
TNFAIP6
Tumor necrosis factor-inducible gene 6 protein (Hyaluronate-binding protein) (TNF-stimulated gene 6 protein) (TSG-6) (Tumor necrosis factor alpha-induced protein 6) (TNF alpha-induced protein 6) P98066 FUNCTION: Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis.
387
ZNF501
Zinc finger protein 501 (Zinc finger protein 52) Q96CX3 FUNCTION: May be involved in transcriptional regulation. Essential for Golgi structural integrity .
388
ZNF24
Zinc finger protein 24 (Retinoic acid suppression protein A) (RSG-A) (Zinc finger and SCAN domain-containing protein 3) (Zinc finger protein 191) (Zinc finger protein KOX17) P17028 FUNCTION: Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence (By similarity). Has transcription repressor activity in vitro.
389
ZNF767P
Protein ZNF767 (Zinc finger protein 767 pseudogene) Q75MW2
390
ZNF76
Zinc finger protein 76 (Zinc finger protein 523) P36508 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
391
TSPAN2
Tetraspanin-2 (Tspan-2) (Tetraspan NET-3) O60636 FUNCTION: May play a role in signalling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath.
392
TSPY2
Testis-specific Y-encoded protein 2 (Testis-specific Y-encoded protein Q1) A6NKD2
393
UXS1
UDP-glucuronic acid decarboxylase 1 (EC 4.1.35) (UDP-glucuronate decarboxylase 1) (UGD) (UXS-1) Q8NBZ7 FUNCTION: Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis. SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane .
394
ZNF22
Zinc finger protein 22 (Zinc finger protein KOX15) (Zinc finger protein Krox-26) P17026 FUNCTION: Binds DNA through the consensus sequence 5'-CAATG-3'. May be involved in transcriptional regulation and may play a role in tooth formation (By similarity).
395
ZSCAN9
Zinc finger and SCAN domain-containing protein 9 (Cell proliferation-inducing gene 12 protein) (PRD51) (Zinc finger protein 193) O15535 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
396
TTC29
Tetratricopeptide repeat protein 29 (TPR repeat protein 29) (Protein TBPP2A) (Testis development protein NYD-SP14) Q8NA56
397
TXNRD2
Thioredoxin reductase 2, mitochondrial (EC 1.1.9) (Selenoprotein Z) (SelZ) (TR-beta) (Thioredoxin reductase TR3) Q9NNW7 FUNCTION: Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis . Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling.
398
FYTTD1
UAP56-interacting factor (Forty-two-three domain-containing protein 1) (Protein 40-2-3) Q96QD9 FUNCTION: Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4.
399
ZFYVE1
Zinc finger FYVE domain-containing protein 1 (Double FYVE-containing protein 1) (SR3) (Tandem FYVE fingers-1) Q9HBF4 SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack. Endoplasmic reticulum. Note=Resides predominantly in the cisternal stacks of the Golgi. Colocalizes with TRIM13 on the perinuclear endoplasmic reticulum.
400
ATP6V0E1
V-type proton ATPase subunit e 1 (V-ATPase subunit e 1) (V-ATPase 9.2 kDa membrane accessory protein) (V-ATPase M9.2 subunit) (Vacuolar proton pump subunit e 1) O15342 FUNCTION: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. SUBCELLULAR LOCATION: Membrane .
401
ATP6V0B
V-type proton ATPase 21 kDa proteolipid subunit (V-ATPase 21 kDa proteolipid subunit) (Vacuolar proton pump 21 kDa proteolipid subunit) (hATPL) Q99437 FUNCTION: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. SUBCELLULAR LOCATION: Vacuole membrane; Multi-pass membrane protein.
402
ATP6V0A1
V-type proton ATPase 116 kDa subunit a isoform 1 (V-ATPase 116 kDa isoform a1) (Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit) (Vacuolar adenosine triphosphatase subunit Ac116) (Vacuolar proton pump subunit 1) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1) Q93050 FUNCTION: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity). SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein. Melanosome. Note=Coated vesicle. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
403
VTI1A
Vesicle transport through interaction with t-SNAREs homolog 1A (Vesicle transport v-SNARE protein Vti1-like 2) (Vti1-rp2) Q96AJ9 FUNCTION: V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular senescence.
404
VSTM1
V-set and transmembrane domain-containing protein 1 (Signal inhibitory receptor on leukocytes-1) (SIRL-1) Q6UX27 FUNCTION: [Isoform 2]: Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17).; FUNCTION: [Isoform 1]: Inhibitory immune receptor involved in the regulation of phagocytes. SUBCELLULAR LOCATION: [Isoform 1]: Membrane .
405
TTC17
Tetratricopeptide repeat protein 17 (TPR repeat protein 17) Q96AE7 FUNCTION: Plays a role in primary ciliogenesis by modulating actin polymerization. Note=Colocalized with CATIP at F-actin rich zones and at dynamic plasma membrane protrusions.
406
UGGT2
UDP-glucose:glycoprotein glucosyltransferase 2 (UGT2) (hUGT2) (EC 2.1.-) (UDP--Glc:glycoprotein glucosyltransferase 2) (UDP-glucose ceramide glucosyltransferase-like 1) Q9NYU1 FUNCTION: Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation.
407
VEZT
Vezatin Q9HBM0 FUNCTION: Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process.
408
UHRF2
E3 ubiquitin-protein ligase UHRF2 (EC 2.2.27) (Np95/ICBP90-like RING finger protein) (Np95-like RING finger protein) (Nuclear protein 97) (Nuclear zinc finger protein Np97) (RING finger protein 107) (RING-type E3 ubiquitin transferase UHRF2) (Ubiquitin-like PHD and RING finger domain-containing protein 2) (Ubiquitin-like-containing PHD and RING finger domains protein 2) Q96PU4 FUNCTION: E3 ubiquitin-protein ligase that is an intermolecular hub protein in the cell cycle network. Through cooperative DNA and histone binding, may contribute to a tighter epigenetic control of gene expression in differentiated cells. Ubiquitinates cyclins, CCND1 and CCNE1, in an apparently phosphorylation-independent manner and induces G1 arrest. Also ubiquitinates PCNP leading to its degradation by the proteasome. E3 SUMO-, but not ubiquitin-, protein ligase for ZNF131.
409
ZNF710
Zinc finger protein 710 Q8N1W2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
410
UNC5D
Netrin receptor UNC5D (Protein unc-5 homolog 4) (Protein unc-5 homolog D) Q6UXZ4 FUNCTION: Receptor for the netrin NTN4 that promotes neuronal cell survival (By similarity). Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). May play a role in apoptosis in response to DNA damage . It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand . Mediates cell-cell adhesion via its interaction with FLRT3 on an adjacent cell (By similarity).
411
ZNF682
Zinc finger protein 682 O95780 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
412
ZNF772
Zinc finger protein 772 Q68DY9 FUNCTION: May be involved in transcriptional regulation.
