{ "uniprot_canonical_ac": "A0AVT1-1", "ptm_annotation": [], "sequence": { "header": "sp|A0AVT1-1|UBA6_HUMAN Isoform 1 of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 1052, "sequence": "MEGSEPVAAHQGEEASCSSWGTGSTNKNLPIMSTASVEIDDALYSRQRYVLGDTAMQKMAKSHVFLSGMGGLGLEIAKNLVLAGIKAVTIHDTEKCQAWDLGTNFFLSEDDVVNKRNRAEAVLKHIAELNPYVHVTSSSVPFNETTDLSFLDKYQCVVLTEMKLPLQKKINDFCRSQCPPIKFISADVHGIWSRLFCDFGDEFEVLDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMTGLNGSIQQITVISPFSFSIGDTTELEPYLHGGIAVQVKTPKTVFFESLERQLKHPKCLIVDFSNPEAPLEIHTAMLALDQFQEKYSRKPNVGCQQDSEELLKLATSISETLEEKPDVNADIVHWLSWTAQGFLSPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADIVESLGKPECEEFLPRGDRYDALRACIGDTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTSKEKGMITVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAADATLKINSQIKIDAHLNKVCPTTETIYNDEFYTKQDVIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEVIVPHLTESYNSHRDPPEEEIPFCTLKSFPAAIEHTIQWARDKFESSFSHKPSLFNKFWQTYSSAEEVLQKIQSGHSLEGCFQVIKLLSRRPRNWSQCVELARLKFEKYFNHKALQLLHCFPLDIRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFAEEDLSADALLNILSEVKIQEFKPSNKVVQTDETARKPDHVPISSEDERNAIFQLEKAILSNEATKSDLQMAVLSFEKDDDHNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATTTATVSGLVALEMIKVTGGYPFEAYKNCFLNLAIPIVVFTETTEVRKTKIRNGISFTIWDRWTVHGKEDFTLLDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPTTEKKYVDLTVSFAPDIDGDEDLPGPPVRYYFSHDTD" }, "uniprot_id": "UBA6_HUMAN", "enzyme_annotation": [ { "ec": "6.2.1.45", "activity": "" }, { "ec": "6.2.1.45", "activity": "ATP + ubiquitin + [E1 ubiquitin-activating enzyme]-L-cysteine = AMP + diphosphate + S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine." } ], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15202508", "type": [ "PubMed" ], "id": "15202508" } ], "title": "Identification and characteristics of a novel E1 like gene nUBE1L in human testis.", "journal": "Acta Biochim. Biophys. Sin.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Lin M., Zhu H., Lu L., Li J.-M., Sha J.-H., Zhou Z.-M., Huo R., Zhou Y.-D., Huang X.-Y., Wang L.-R.", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17580310", "type": [ "PubMed" ], "id": "17580310" } ], "title": "UBE1L2, a novel E1 enzyme specific for ubiquitin.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Pelzer C, Kassner I, Matentzoglu K, Singh RK, Wollscheid HP, Scheffner M, Schmidtke G, Groettrup M", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17597759", "type": [ "PubMed" ], "id": "17597759" } ], "title": "Dual E1 activation systems for ubiquitin differentially regulate E2 enzyme charging.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Gygi S.P., Jin J., Li X., Harper J.W.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17889673", "type": [ "PubMed" ], "id": "17889673" } ], "title": "E1-L2 activates both ubiquitin and FAT10.", "journal": "Mol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Sun Q., Chen Z.J., Chiu Y.-H.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18353650", "type": [ "PubMed" ], "id": "18353650" } ], "title": "Activating the ubiquitin family: UBA6 challenges the field.", "journal": "Trends in biochemical sciences", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Groettrup M, Pelzer C, Schmidtke G, Hofmann K", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "type": [ "PubMed" ], "id": "19608861" } ], "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "authors": "Choudhary C., Gnad F., Kumar C., Mann M., Nielsen M.L., Olsen J.V., Rehman M., Walther T.C.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22999844", "type": [ "PubMed" ], "id": "22999844" } ], "title": "The Escherichia coli adherence factor plasmid of enteropathogenic Escherichia coli causes a global decrease in ubiquitylated host cell proteins by decreasing ubiquitin E1 enzyme expression through host aspartyl proteases.", "journal": "The international journal of biochemistry & cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Lin AE, Guttman JA", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23301498", "type": [ "PubMed" ], "id": "23301498" } ], "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25422469", "type": [ "PubMed" ], "id": "25422469" } ], "title": "Disruption of FAT10-MAD2 binding inhibits tumor progression.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "authors": "Gao Y., Wang W., Chong S.S., Lim L., Song J., Chan C., Lee C.G., Qin H., Mah W.C., Theng S.S., Zhuo J.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26284580", "type": [ "PubMed" ], "id": "26284580" } ], "title": "Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.", "journal": "American journal of medical genetics. Part A", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Quintela I, Barros F, Fernandez-Prieto M, Martinez-Regueiro R, Castro-Gago M, Carracedo A, Gomez-Lado C, Eiris J", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27569286", "type": [ "PubMed" ], "id": "27569286" } ], "title": "LMO2 blocks the UBA6-USE1 interaction and downstream FAT10ylation by targeting the ubiquitin fold domain of UBA6.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Wu C, Liu Y, Gu X, Zhu T, Yang S, Sun W", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28134249", "type": [ "PubMed" ], "id": "28134249" } ], "title": "Orthogonal ubiquitin transfer identifies ubiquitination substrates under differential control by the two ubiquitin activating enzymes.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Liu X, Zhao B, Sun L, Bhuripanyo K, Wang Y, Bi Y, Davuluri RV, Duong DM, Nanavati D, Yin J, Kiyokawa H", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28510447", "type": [ "PubMed" ], "id": "28510447" } ], "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "type": [ "PubMed" ], "id": "29351928" } ], "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "date": "2018" } ], "uniprot_ac": "A0AVT1", "site_annotation": [ { "end_pos": 145, "annotation": "n_glycosylation_sequon", "start_pos": 143 }, { "end_pos": 222, "annotation": "n_glycosylation_sequon", "start_pos": 220 }, { "end_pos": 259, "annotation": "n_glycosylation_sequon", "start_pos": 257 }, { "end_pos": 697, "annotation": "n_glycosylation_sequon", "start_pos": 695 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1#A0AVT1-1", "isoform_ac": "A0AVT1-1", "locus": { "end_pos": 67619000, "strand": "+", "start_pos": 67701119, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000322244", "id": "ENST00000322244", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000313454", "id": "ENSP00000313454", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVT1-1|UBA6_HUMAN Isoform 1 of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 1052, "sequence": "MEGSEPVAAHQGEEASCSSWGTGSTNKNLPIMSTASVEIDDALYSRQRYVLGDTAMQKMAKSHVFLSGMGGLGLEIAKNLVLAGIKAVTIHDTEKCQAWDLGTNFFLSEDDVVNKRNRAEAVLKHIAELNPYVHVTSSSVPFNETTDLSFLDKYQCVVLTEMKLPLQKKINDFCRSQCPPIKFISADVHGIWSRLFCDFGDEFEVLDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMTGLNGSIQQITVISPFSFSIGDTTELEPYLHGGIAVQVKTPKTVFFESLERQLKHPKCLIVDFSNPEAPLEIHTAMLALDQFQEKYSRKPNVGCQQDSEELLKLATSISETLEEKPDVNADIVHWLSWTAQGFLSPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADIVESLGKPECEEFLPRGDRYDALRACIGDTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTSKEKGMITVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAADATLKINSQIKIDAHLNKVCPTTETIYNDEFYTKQDVIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEVIVPHLTESYNSHRDPPEEEIPFCTLKSFPAAIEHTIQWARDKFESSFSHKPSLFNKFWQTYSSAEEVLQKIQSGHSLEGCFQVIKLLSRRPRNWSQCVELARLKFEKYFNHKALQLLHCFPLDIRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFAEEDLSADALLNILSEVKIQEFKPSNKVVQTDETARKPDHVPISSEDERNAIFQLEKAILSNEATKSDLQMAVLSFEKDDDHNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATTTATVSGLVALEMIKVTGGYPFEAYKNCFLNLAIPIVVFTETTEVRKTKIRNGISFTIWDRWTVHGKEDFTLLDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPTTEKKYVDLTVSFAPDIDGDEDLPGPPVRYYFSHDTD" } }, { "url": "https://www.uniprot.org/uniprot/A0AVT1#A0AVT1-2", "isoform_ac": "A0AVT1-2", "locus": {}, "sequence": { "header": "sp|A0AVT1-2|UBA6_HUMAN Isoform 2 of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 578, "sequence": "MLKNFALLGVGTSKEKGMITVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAADATLKINSQIKIDAHLNKVCPTTETIYNDEFYTKQDVIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEVIVPHLTESYNSHRDPPEEEIPFCTLKSFPAAIEHTIQWARDKFESSFSHKPSLFNKFWQTYSSAEEVLQKIQSGHSLEGCFQVIKLLSRRPRNWSQCVELARLKFEKYFNHKALQLLHCFPLDIRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFAEEDLSADALLNILSEVKIQEFKPSNKVVQTDETARKPDHVPISSEDERNAIFQLEKAILSNEATKSDLQMAVLSFEKDDDHNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATTTATVSGLVALEMIKVTGGYPFEAYKNCFLNLAIPIVVFTETTEVRKTKIRNGISFTIWDRWTVHGKEDFTLLDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPTTEKKYVDLTVSFAPDIDGDEDLPGPPVRYYFSHDTD" } }, { "url": "https://www.uniprot.org/uniprot/A0AVT1#A0AVT1-3", "isoform_ac": "A0AVT1-3", "locus": { "end_pos": 67662126, "strand": "+", "start_pos": 67701119, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000420827", "id": "ENST00000420827", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000399234", "id": "ENSP00000399234", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVT1-3|UBA6_HUMAN Isoform 3 of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 389, "sequence": "MEGSEPVAAHQGEEASCSSWGTGSTNKNLPIMSTASVEIDDALYSRQRYVLGDTAMQKMAKSHVFLSGMGGLGLEIAKNLVLAGIKAVTIHDTEKCQAWDLGTNFFLSEDDVVNKRNRAEAVLKHIAELNPYVHVTSSSVPFNETTDLSFLDKYQCVVLTEMKLPLQKKINDFCRSQCPPIKFISADVHGIWSRLFCDFGDEFEVLDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMTGLNGSIQQITVISPFSFSIGDTTELEPYLHGGIAVQVKTPKTVFFESLERQLKHPKCLIVDFSNPEAPLEIHTAMLALDQFQEKYSRKPNVGCQQDSEELLKLATSISETLEEKVTIEIYGCPNICLLIHKCSVY" } }, { "url": "https://www.uniprot.org/uniprot/A0AVT1#A0AVT1-4", "isoform_ac": "A0AVT1-4", "locus": {}, "sequence": { "header": "sp|A0AVT1-4|UBA6_HUMAN Isoform 4 of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 340, "sequence": "MEGSEPVAAHQGEEASCSSWGTGSTNKNLPIMSTASVEIDDALYSRQRYVLGDTAMQKMAKSHVFLSGMGGLGLEIAKNLVLAGIKAVTIHDTEKCQAWDLGTNFFLSEDDVVNKRNRAEAVLKHIAELNPYVHVTSSSVPFNETTDLSFLDKYQCVVLTEMKLPLQKKINDFCRSQCPPIKFISADVHGIWSRLFCDFGDEFEVLDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMTGLNGSIQQITVISPFSFSIGDTTELEPYLHGGIAVQVKTPKTVFFESLERQLKHPKCLIVDFSNPEVNKHFAGLREAAESEMRISE" } }, { "url": "https://www.uniprot.org/uniprot/A0AVT1#H0Y8S8-1", "isoform_ac": "H0Y8S8-1", "locus": { "end_pos": 67630454, "strand": "+", "start_pos": 67644774, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000505673", "id": "ENST00000505673", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000421984", "id": "ENSP00000421984", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y8S8-1|UBA6_HUMAN Computationally mapped isoform of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 271, "sequence": "XCGAIGCEMLKNFALLGVGTSKEKGMITVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAADATLKINSQIKIDAHLNKVCPTTETIYNDEFYTKQDVIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEVIVPHLTESYNSHRDPPEEEIPFCTLKSFPAAIEHTIQWARDKFESSFSHKPSLFNKFWQTYSSAEEVLQALQLLHCFPLDIRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFAEEVRYS" } }, { "url": "https://www.uniprot.org/uniprot/A0AVT1#H0Y9U5-1", "isoform_ac": "H0Y9U5-1", "locus": { "end_pos": 67622912, "strand": "+", "start_pos": 67625155, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000514261", "id": "ENST00000514261", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000425091", "id": "ENSP00000425091", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y9U5-1|UBA6_HUMAN Computationally mapped isoform of Ubiquitin-like modifier-activating enzyme 6 OS=Homo sapiens OX=9606 GN=UBA6 PE=1 SV=1 CANONICAL=A0AVT1-1", "length": 88, "sequence": "KDDDHNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATTTATVSGLKWNIIYNLGSMDRTWKRRFHPLGFHKCSQREVWN" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55236", "resource": "KEGG Pathway", "id": "hsa:55236", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866652", "resource": "Reactome", "id": "R-HSA-8866652", "name": "Synthesis of active ubiquitin: roles of E1 and E2 enzymes" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168", "resource": "Reactome", "id": "R-HSA-983168", "name": "Antigen processing: Ubiquitination & Proteasome degradation" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1#function", "annotation": "Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1#function", "id": "A0AVT1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "Diminished ubiquitylation phenotype observed in enteropathogenic Escherichia coli infected cells corresponds to a strong reduction in the abundance of both Ube1 and Uba6.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "Human Uba6 and Ube1 have distinct preferences for E2 charging in vitro, and their specificity depends in part on their C-terminal ubiquitin-fold domains, which recruit E2s", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "Polyubiquitination and proteasomal degradation of ezrin and CUGBP1 require Uba6, but not Uba1, and that Uba6 is involved in the control of ezrin localization and epithelial morphogenesis. These data suggest that distinctive substrate pools exist for Uba1 and Uba6 that reflect non-redundant biological roles for Uba6. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "The identification of an E1-like protein, termed E1-L2, that activates both ubiquitin and another ubiquitin-like protein, FAT10, is reported.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "This study revealed a novel function of LMO2 involving in the regulatory hierarchy of UBA6-USE1-FAT10ylation pathway by targeting the E1 enzyme UBA6.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "UBE1L2 is a novel E1 enzyme specific for ubiquitin", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "annotation": "Ubiquitin-like modifier activating enzyme 6 activates not only ubiquitin, but also the ubiquitin-like modifier FAT10[review] Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4A8H3-1", "protein_name": "Ubiquitin-like modifier-activating enzyme 6", "sequence": { "length": 1053, "sequence": "MERSEPLAVLSCEEASCSSWGACGASKNLPTMTTESLEIDDGLYSRQRYVLGDTAMQKMAKSCVFLSGMGGLGVEIAKNLVLAGIKALTIHDTKKCQAWDLGTNFFLCEDDVVNERNRAEAVLHRVAELNPYVQVSSSSAPFDETTDLSFLEKYQCVVLTETKLTLQKKINNFCHSHCPPIKFISTDVHGIWSRLFCDFGDEFEVSDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMAGLNGSVQQITVISPFSFSIGDTTELDPYLHGGIAVQVKTPKIFNFEPLESQIKHPKCLIADFSKPEAPLQIHVAMLALDQFQENYSRKPNIRCQQDSDELLKLTICISETLEEKPEVNADIVHWLSWTAQGFLPPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADTVESLGNLGHEEFLPRGDRYDAFRACIGNTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTGREKGMVTVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAAEATLKINPQLKIDAHLNKVCPATESTYSDEFYNKQDIVITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEIIVPQLTESYNSHRDPPEEEIPFCTLKSFPAAVEHTIQWARDKFESSFSHKPSLFNKFWQAYPSAEDVLQKIQNGQSLEGCFQVIKLLSRRPRMWSQCVELARLKFEKYFNHKALQLLHCFPLDTRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFSEKDLSVDSLMDILSEVKIQEFKPSNKVVQTDETARKPDHVPVSSEDERNAVFQLEKALSSNKATKSDLQMAVLSFEKDDDSNGHIDFITAASNLRAKMYNIEPADRFKTKRIAGKIIPAIATSTAAVSGLVALEMIKVAGGYPFDAYKNCFLNLAIPIIVFTETSEVRKTEIRNGISFTIWDRWTVHGKEDFTLSDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPSTEKKYVDLTVSFAPDADGDEDLPGPPVRYYFSHDTDE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10080", "id": "10080", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0AVT1/", "id": "A0AVT1", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8C7R4-1", "protein_name": "Ubiquitin-like modifier-activating enzyme 6", "sequence": { "length": 1053, "sequence": "MERSEPLAVLSCEEASCSSWGACGASKNLPTMTTESLEIDDGLYSRQRYVLGDTAMQKMAKSCVFLSGMGGLGVEIAKNLVLAGIKALTIHDTKKCQAWDLGTNFFLCEDDVVNERNRAEAVLHRIAELNPYVQVSSSSAPLDETTDLSFLEKYQCVVLTEIKLTLQKKINNFCHSHCPPIKFISADVHGIWSRLFCDFGDEFEVSDTTGEEPKEIFISNITQANPGIVTCLESHPHKLETGQFLTFREIHGMTGLNGSVQQITVISPFSFSIGDTTKLDPYLHGGIAVQVKTPKTFCFEPLESQIKHPRCLIADFSKPEAPLEIHLAMLALDQFQENYNRKPNIRCQQDSDELLKLTVSINETLEEKPEVNADIVHWLSWTAQGFLPPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADTVESLGNPGHEEFLPRGDRYDAIRACIGNTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTGREKGMVTVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAAEATLKINPQLKIDAHLNKVCPATESIYSDEFYTKQDIIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEIIVPQLTESYNSHRDPPEEEIPFCTLKSFPAAIEHTIQWARDKFESSFSHKPSLFNKFWQAYPSAEDVLQKIQNGQSLEGCFQVIKLLSRRPRIWSQCVELARLKFEKYFNHKALQLLHCFPLETRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQSAAKLYATVYCIPFSEKDLSVNSLMDILSEVKIEEFKPSNKVVQTDETARKPDHVPVSSEDERNAVFQLEEALSSNKATKSDLQMTVLSFEKDDDRNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATSTAAVSGLVALEMIKVAGGYPFDAYKNCFLNLAIPIIVFTETSEVRKTEIRNGISFTIWDRWTVHGKEDFTLSDFINAVKENYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPSTEKKYVDLTVSFAPDADGDEDLPGPPVRYYFSHDTNE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10080", "id": "10080", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "G", "start_pos": 227, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "68534382", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.7", "sequence_mut": "D", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.7%); patient count (25/1514).", "end_pos": 227, "minor_allelic_frequency": "", "subjects_positive": "25" }, { "sequence_org": "D", "start_pos": 1023, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "68484807", "disease": [ { "synonyms": [ { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222566005", "id": "rs1222566005", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222566005", "id": "rs1222566005", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "0.1", "sequence_mut": "N", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLT->NLT).", "end_pos": 1023, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 140, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "68543376", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 140, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "67677637", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377283882", "id": "rs377283882", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377283882", "id": "rs377283882", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs377283882#frequency_tab", "id": "rs377283882", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs377283882", "id": "rs377283882", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 147, "keywords": [ "ebi", "germline" ], "end_pos": 147, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS)." }, { "sequence_org": "T", "start_pos": 222, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "68536192", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } }, { "synonyms": [ { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "uterine cervical neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." } }, { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-site-loss", "o-glyco-site-loss" ], "frequency": "0.4", "sequence_mut": "M", "subjects_tested": "228", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs778733309.", "end_pos": 222, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "start_pos": 241, "alt_nt": "C", "chr_id": "4", "ref_nt": "T", "chr_pos": "68534341", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "A", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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