psui3905/ncbi_genes_summary huggingface dataset:
TYRO3, Official Symbol TYRO3provided by HGNC Official Full Name TYRO3 protein tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:12446 See related Ensembl:ENSG00000092445 MIM:600341; AllianceGenome:HGNC:12446 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BYK; Dtk; RSE; Rek; Sky; Tif; Etk-2 Summary The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010] Expression Broad expression in ovary (RPKM 23.1), brain (RPKM 22.4) and 14 other tissues See more Orthologs mouse all
TYROBP, Official Symbol TYROBPprovided by HGNC Official Full Name transmembrane immune signaling adaptor TYROBPprovided by HGNC Primary source HGNC:HGNC:12449 See related Ensembl:ENSG00000011600 MIM:604142; AllianceGenome:HGNC:12449 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DAP12; KARAP; PLOSL; PLOSL1 Summary This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010] Expression Broad expression in bone marrow (RPKM 147.9), spleen (RPKM 124.2) and 20 other tissues See more Orthologs mouse all
TYRP1, Official Symbol TYRP1provided by HGNC Official Full Name tyrosinase related protein 1provided by HGNC Primary source HGNC:HGNC:12450 See related Ensembl:ENSG00000107165 MIM:115501; AllianceGenome:HGNC:12450 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN Summary This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009] Expression Biased expression in skin (RPKM 66.6), heart (RPKM 17.1) and 1 other tissue See more Orthologs mouse all
TYSND1, Official Symbol TYSND1provided by HGNC Official Full Name trypsin like peroxisomal matrix peptidase 1provided by HGNC Primary source HGNC:HGNC:28531 See related Ensembl:ENSG00000156521 MIM:611017; AllianceGenome:HGNC:28531 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NET41 Summary This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] Expression Broad expression in testis (RPKM 9.5), skin (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
TYW1, Official Symbol TYW1provided by HGNC Official Full Name tRNA-yW synthesizing protein 1 homologprovided by HGNC Primary source HGNC:HGNC:25598 See related Ensembl:ENSG00000198874 MIM:611243; AllianceGenome:HGNC:25598 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TYW1A; RSAFD1; YPL207W Summary Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in thyroid (RPKM 5.7), ovary (RPKM 5.0) and 25 other tissues See more Orthologs all
TYW1B, Official Symbol TYW1Bprovided by HGNC Official Full Name tRNA-yW synthesizing protein 1 homolog Bprovided by HGNC Primary source HGNC:HGNC:33908 See related Ensembl:ENSG00000277149 AllianceGenome:HGNC:33908 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RSAFD2; LINC00069; NCRNA00069 Summary Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in ovary (RPKM 3.5), thyroid (RPKM 3.4) and 25 other tissues See more Orthologs all
TYW3, Official Symbol TYW3provided by HGNC Official Full Name tRNA-yW synthesizing protein 3 homologprovided by HGNC Primary source HGNC:HGNC:24757 See related Ensembl:ENSG00000162623 MIM:611245; AllianceGenome:HGNC:24757 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf171 Summary Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in thyroid (RPKM 10.1), ovary (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
TYW5, Official Symbol TYW5provided by HGNC Official Full Name tRNA-yW synthesizing protein 5provided by HGNC Primary source HGNC:HGNC:26754 See related Ensembl:ENSG00000162971 MIM:619882; AllianceGenome:HGNC:26754 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hTYW5; C2orf60 Summary Enables several functions, including iron ion binding activity; protein homodimerization activity; and tRNAPhe (7-(3-amino-3-carboxypropyl)wyosine37-C2)-hydroxylase activity. Involved in wybutosine biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 2.6), thyroid (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
U2AF1, Official Symbol U2AF1provided by HGNC Official Full Name U2 small nuclear RNA auxiliary factor 1provided by HGNC Primary source HGNC:HGNC:12453 See related Ensembl:ENSG00000160201 MIM:191317; AllianceGenome:HGNC:12453 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RN; FP793; U2AF35; U2AFBP; RNU2AF1 Summary This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 35.4), colon (RPKM 24.4) and 25 other tissues See more Orthologs mouse all
U2AF1L4, Official Symbol U2AF1L4provided by HGNC Official Full Name U2 small nuclear RNA auxiliary factor 1 like 4provided by HGNC Primary source HGNC:HGNC:23020 See related Ensembl:ENSG00000161265 MIM:601080; AllianceGenome:HGNC:23020 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as U2af26; U2AF1L3; U2AF1RS3; U2AF1-RS3; U2AF1L3V1 Summary Predicted to enable pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 9.3), thyroid (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
U2AF2, Official Symbol U2AF2provided by HGNC Official Full Name U2 small nuclear RNA auxiliary factor 2provided by HGNC Primary source HGNC:HGNC:23156 See related Ensembl:ENSG00000063244 MIM:191318; AllianceGenome:HGNC:23156 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as U2AF65 Summary U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 33.5), appendix (RPKM 33.2) and 25 other tissues See more Orthologs mouse all
U2SURP, Official Symbol U2SURPprovided by HGNC Official Full Name U2 snRNP associated SURP domain containingprovided by HGNC Primary source HGNC:HGNC:30855 See related Ensembl:ENSG00000163714 MIM:617849; AllianceGenome:HGNC:30855 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SR140; fSAPa Summary Enables RNA binding activity. Predicted to be involved in RNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 18.6), lymph node (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
UACA, Official Symbol UACAprovided by HGNC Official Full Name uveal autoantigen with coiled-coil domains and ankyrin repeatsprovided by HGNC Primary source HGNC:HGNC:15947 See related Ensembl:ENSG00000137831 MIM:612516; AllianceGenome:HGNC:15947 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NUCLING Summary This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017] Expression Ubiquitous expression in fat (RPKM 19.8), thyroid (RPKM 18.4) and 23 other tissues See more Orthologs mouse all
UAP1, Official Symbol UAP1provided by HGNC Official Full Name UDP-N-acetylglucosamine pyrophosphorylase 1provided by HGNC Primary source HGNC:HGNC:12457 See related Ensembl:ENSG00000117143 MIM:602862; AllianceGenome:HGNC:12457 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGX; AGX1; AGX2; SPAG2 Summary Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues See more Orthologs mouse all
UAP1L1, Official Symbol UAP1L1provided by HGNC Official Full Name UDP-N-acetylglucosamine pyrophosphorylase 1 like 1provided by HGNC Primary source HGNC:HGNC:28082 See related Ensembl:ENSG00000197355 AllianceGenome:HGNC:28082 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable UDP-N-acetylglucosamine diphosphorylase activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 6.4), thyroid (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
UBA1, Official Symbol UBA1provided by HGNC Official Full Name ubiquitin like modifier activating enzyme 1provided by HGNC Primary source HGNC:HGNC:12469 See related Ensembl:ENSG00000130985 MIM:314370; AllianceGenome:HGNC:12469 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A1S9; A1ST; GXP1; UBE1; A1S9T; AMCX1; POC20; SMAX2; UBA1A; UBE1X; VEXAS; CFAP124 Summary The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 27.6), brain (RPKM 26.8) and 25 other tissues See more Orthologs mouse all
UBA2, Official Symbol UBA2provided by HGNC Official Full Name ubiquitin like modifier activating enzyme 2provided by HGNC Primary source HGNC:HGNC:30661 See related Ensembl:ENSG00000126261 MIM:613295; AllianceGenome:HGNC:30661 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARX; SAE2; ACCES; HRIHFB2115 Summary Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010] Expression Ubiquitous expression in testis (RPKM 52.1), fat (RPKM 42.8) and 25 other tissues See more Orthologs mouse all
UBA3, Official Symbol UBA3provided by HGNC Official Full Name ubiquitin like modifier activating enzyme 3provided by HGNC Primary source HGNC:HGNC:12470 See related Ensembl:ENSG00000144744 MIM:603172; AllianceGenome:HGNC:12470 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NAE2; UBE1C; hUBA3 Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 24.5), lymph node (RPKM 24.0) and 25 other tissues See more Orthologs mouse all
UBA5, Official Symbol UBA5provided by HGNC Official Full Name ubiquitin like modifier activating enzyme 5provided by HGNC Primary source HGNC:HGNC:23230 See related Ensembl:ENSG00000081307 MIM:610552; AllianceGenome:HGNC:23230 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1 Summary This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
UBA52, Official Symbol UBA52provided by HGNC Official Full Name ubiquitin A-52 residue ribosomal protein fusion product 1provided by HGNC Primary source HGNC:HGNC:12458 See related Ensembl:ENSG00000221983 MIM:191321; AllianceGenome:HGNC:12458 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L40; CEP52; RPL40; HUBCEP52 Summary Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 89.0), bone marrow (RPKM 83.5) and 25 other tissues See more Orthologs mouse all
UBA52P3, Official Symbol UBA52P3provided by HGNC Official Full Name ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:20056 See related AllianceGenome:HGNC:20056 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RPL40_5_1373
UBA52P7, Official Symbol UBA52P7provided by HGNC Official Full Name ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:36615 See related AllianceGenome:HGNC:36615 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RPL40_2_1281
UBA52P9, Official Symbol UBA52P9provided by HGNC Official Full Name ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 9provided by HGNC Primary source HGNC:HGNC:36169 See related Ensembl:ENSG00000244329 AllianceGenome:HGNC:36169 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RPL40_4_1591
UBA6, Official Symbol UBA6provided by HGNC Official Full Name ubiquitin like modifier activating enzyme 6provided by HGNC Primary source HGNC:HGNC:25581 See related Ensembl:ENSG00000033178 MIM:611361; AllianceGenome:HGNC:25581 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E1-L2; MOP-4; UBE1L2 Summary Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in lymph node (RPKM 7.6), appendix (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
UBA7, Official Symbol UBA7provided by HGNC Official Full Name ubiquitin like modifier activating enzyme 7provided by HGNC Primary source HGNC:HGNC:12471 See related Ensembl:ENSG00000182179 MIM:191325; AllianceGenome:HGNC:12471 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D8; UBE2; UBE7; UBA1B; UBE1L Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 37.8), lymph node (RPKM 34.4) and 25 other tissues See more Orthologs mouse all
UBAC1, Official Symbol UBAC1provided by HGNC Official Full Name UBA domain containing 1provided by HGNC Primary source HGNC:HGNC:30221 See related Ensembl:ENSG00000130560 MIM:608129; AllianceGenome:HGNC:30221 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KPC2; GBDR1; UBADC1 Summary Predicted to be involved in protein ubiquitination. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 32.5), testis (RPKM 24.1) and 25 other tissues See more Orthologs mouse all
UBAC2, Official Symbol UBAC2provided by HGNC Official Full Name UBA domain containing 2provided by HGNC Primary source HGNC:HGNC:20486 See related Ensembl:ENSG00000134882 AllianceGenome:HGNC:20486 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PHGDHL1 Summary Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.2), thyroid (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
UBAC2-AS1, Official Symbol UBAC2-AS1provided by HGNC Official Full Name UBAC2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42502 See related Ensembl:ENSG00000228889 AllianceGenome:HGNC:42502 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 2.9), prostate (RPKM 0.8) and 23 other tissues See more
UBALD1, Official Symbol UBALD1provided by HGNC Official Full Name UBA like domain containing 1provided by HGNC Primary source HGNC:HGNC:29576 See related Ensembl:ENSG00000153443 AllianceGenome:HGNC:29576 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM100A; PP11303 Expression Ubiquitous expression in kidney (RPKM 10.6), liver (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
UBALD2, Official Symbol UBALD2provided by HGNC Official Full Name UBA like domain containing 2provided by HGNC Primary source HGNC:HGNC:28438 See related Ensembl:ENSG00000185262 AllianceGenome:HGNC:28438 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM100B Expression Ubiquitous expression in bone marrow (RPKM 45.5), small intestine (RPKM 20.8) and 25 other tissues See more Orthologs mouse all
UBAP1, Official Symbol UBAP1provided by HGNC Official Full Name ubiquitin associated protein 1provided by HGNC Primary source HGNC:HGNC:12461 See related Ensembl:ENSG00000165006 MIM:609787; AllianceGenome:HGNC:12461 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UAP; UBAP; NAG20; SPG80; UBAP-1 Summary This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in bone marrow (RPKM 39.6), testis (RPKM 26.3) and 25 other tissues See more Orthologs mouse all
UBAP1L, Official Symbol UBAP1Lprovided by HGNC Official Full Name ubiquitin associated protein 1 likeprovided by HGNC Primary source HGNC:HGNC:40028 See related Ensembl:ENSG00000246922 AllianceGenome:HGNC:40028 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBAP-1L Summary Predicted to enable ubiquitin binding activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to be part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 1.3), ovary (RPKM 1.1) and 25 other tissues See more Orthologs mouse all
UBAP2, Official Symbol UBAP2provided by HGNC Official Full Name ubiquitin associated protein 2provided by HGNC Primary source HGNC:HGNC:14185 See related Ensembl:ENSG00000137073 AllianceGenome:HGNC:14185 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBAP-2 Summary The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Broad expression in testis (RPKM 18.9), adrenal (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
UBAP2L, Official Symbol UBAP2Lprovided by HGNC Official Full Name ubiquitin associated protein 2 likeprovided by HGNC Primary source HGNC:HGNC:29877 See related Ensembl:ENSG00000143569 MIM:616472; AllianceGenome:HGNC:29877 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NICE4; NEDLBF; NICE-4 Summary Enables RNA binding activity. Involved in binding activity of sperm to zona pellucida and stress granule assembly. Acts upstream of or within hematopoietic stem cell homeostasis. Part of PcG protein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 26.7), placenta (RPKM 21.3) and 25 other tissues See more Orthologs mouse all
UBASH3A, Official Symbol UBASH3Aprovided by HGNC Official Full Name ubiquitin associated and SH3 domain containing Aprovided by HGNC Primary source HGNC:HGNC:12462 See related Ensembl:ENSG00000160185 MIM:605736; AllianceGenome:HGNC:12462 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TULA; CLIP4; STS-2; TULA-1 Summary This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Biased expression in lymph node (RPKM 3.3), appendix (RPKM 1.9) and 12 other tissues See more Orthologs mouse all
UBASH3B, Official Symbol UBASH3Bprovided by HGNC Official Full Name ubiquitin associated and SH3 domain containing Bprovided by HGNC Primary source HGNC:HGNC:29884 See related Ensembl:ENSG00000154127 MIM:609201; AllianceGenome:HGNC:29884 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p70; STS1; STS-1; TULA2; TULA-2 Summary This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 7.0), placenta (RPKM 6.8) and 18 other tissues See more Orthologs mouse all
UBB, Official Symbol UBBprovided by HGNC Official Full Name ubiquitin Bprovided by HGNC Primary source HGNC:HGNC:12463 See related Ensembl:ENSG00000170315 MIM:191339; AllianceGenome:HGNC:12463 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HEL-S-50 Summary This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in liver (RPKM 498.1), testis (RPKM 495.1) and 25 other tissues See more Orthologs mouse all
UBBP1, Official Symbol UBBP1provided by HGNC Official Full Name ubiquitin B pseudogene 1provided by HGNC Primary source HGNC:HGNC:12464 See related AllianceGenome:HGNC:12464 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBBP2, Official Symbol UBBP2provided by HGNC Official Full Name ubiquitin B pseudogene 2provided by HGNC Primary source HGNC:HGNC:12465 See related AllianceGenome:HGNC:12465 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBBP4, Official Symbol UBBP4provided by HGNC Official Full Name ubiquitin B pseudogene 4provided by HGNC Primary source HGNC:HGNC:12467 See related Ensembl:ENSG00000290919 AllianceGenome:HGNC:12467 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBBP5, Official Symbol UBBP5provided by HGNC Official Full Name ubiquitin B pseudogene 5provided by HGNC Primary source HGNC:HGNC:42645 See related AllianceGenome:HGNC:42645 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBC, Official Symbol UBCprovided by HGNC Official Full Name ubiquitin Cprovided by HGNC Primary source HGNC:HGNC:12468 See related Ensembl:ENSG00000150991 MIM:191340; AllianceGenome:HGNC:12468 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HMG20 Summary This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in bone marrow (RPKM 1559.8), gall bladder (RPKM 1270.7) and 25 other tissues See more Orthologs mouse all
UBD, Official Symbol UBDprovided by HGNC Official Full Name ubiquitin Dprovided by HGNC Primary source HGNC:HGNC:18795 See related Ensembl:ENSG00000213886 MIM:606050; AllianceGenome:HGNC:18795 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAT10; UBD-3; GABBR1 Summary This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017] Expression Biased expression in lymph node (RPKM 113.8), appendix (RPKM 64.9) and 10 other tissues See more Orthologs mouse all
UBE2A, Official Symbol UBE2Aprovided by HGNC Official Full Name ubiquitin conjugating enzyme E2 Aprovided by HGNC Primary source HGNC:HGNC:12472 See related Ensembl:ENSG00000077721 MIM:312180; AllianceGenome:HGNC:12472 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBC2; HHR6A; MRXSN; RAD6A; MRXS30 Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in placenta (RPKM 31.4), colon (RPKM 30.1) and 25 other tissues See more Orthologs mouse all
UBE2B, Official Symbol UBE2Bprovided by HGNC Official Full Name ubiquitin conjugating enzyme E2 Bprovided by HGNC Primary source HGNC:HGNC:12473 See related Ensembl:ENSG00000119048 MIM:179095; AllianceGenome:HGNC:12473 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HR6B; UBC2; HHR6B; RAD6B; E2-17kDa Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 31.0), heart (RPKM 26.8) and 25 other tissues See more Orthologs mouse all
UBE2C, Official Symbol UBE2Cprovided by HGNC Official Full Name ubiquitin conjugating enzyme E2 Cprovided by HGNC Primary source HGNC:HGNC:15937 See related Ensembl:ENSG00000175063 MIM:605574; AllianceGenome:HGNC:15937 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBCH10; dJ447F3.2 Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013] Expression Biased expression in bone marrow (RPKM 14.3), lymph node (RPKM 11.0) and 13 other tissues See more Orthologs mouse all
UBE2CP2, Official Symbol UBE2CP2provided by HGNC Official Full Name ubiquitin conjugating enzyme E2 C pseudogene 2provided by HGNC Primary source HGNC:HGNC:43551 See related Ensembl:ENSG00000265939 AllianceGenome:HGNC:43551 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBE2CP3, Official Symbol UBE2CP3provided by HGNC Official Full Name ubiquitin conjugating enzyme E2 C pseudogene 3provided by HGNC Primary source HGNC:HGNC:43552 See related AllianceGenome:HGNC:43552 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBE2CP4, Official Symbol UBE2CP4provided by HGNC Official Full Name ubiquitin conjugating enzyme E2 C pseudogene 4provided by HGNC Primary source HGNC:HGNC:43553 See related AllianceGenome:HGNC:43553 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UBE2D1, Official Symbol UBE2D1provided by HGNC Official Full Name ubiquitin conjugating enzyme E2 D1provided by HGNC Primary source HGNC:HGNC:12474 See related Ensembl:ENSG00000072401 MIM:602961; AllianceGenome:HGNC:12474 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SFT; UBCH5; UBC4/5; UBCH5A; E2(17)KB1 Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in bone marrow (RPKM 16.4), appendix (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
UBE2D2, Official Symbol UBE2D2provided by HGNC Official Full Name ubiquitin conjugating enzyme E2 D2provided by HGNC Primary source HGNC:HGNC:12475 See related Ensembl:ENSG00000131508 MIM:602962; AllianceGenome:HGNC:12475 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UBC4; PUBC1; UBCH4; UBC4/5; UBCH5B; E2(17)KB2 Summary Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 32.5), brain (RPKM 24.1) and 25 other tissues See more Orthologs mouse all