{ "uniprot_canonical_ac": "A0AVT1-1", "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": "ATP + ubiquitin + [E1 ubiquitin-activating enzyme]-L-cysteine = AMP + diphosphate + S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine." }, { "ec": "6.2.1.45", "activity": "" } ], "synonyms": { "protein": { "refseq": [ "ubiquitin-like modifier-activating enzyme 6", "ubiquitin-activating enzyme E1-like 2; UBA6, ubiquitin-activating enzyme E1; monocyte protein 4; ubiquitin-activating enzyme 6; ubiquitin-activating enzyme E1-like protein 2" ], "uniprotkb": [ "Ubiquitin-like modifier-activating enzyme 6", "Ubiquitin-activating enzyme 6", "6.2.1.45", "Monocyte protein 4", "MOP-4", "Ubiquitin-activating enzyme E1-like protein 2", "E1-L2" ] }, "gene": { "refseq": [ "UBA6", "E1-L2", "MOP-4", "UBE1L2" ], "uniprotkb": [ "UBA6", "MOP4", "UBE1L2", "E1-L2", "MOP-4" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Ubiquitin-like modifier-activating enzyme 6; Ubiquitin-activating enzyme 6; 6.2.1.45; Monocyte protein 4; MOP-4; Ubiquitin-activating enzyme E1-like protein 2; E1-L2.", "short": "Ubiquitin-activating enzyme 6" }, "publication": [ { "title": "Orthogonal ubiquitin transfer identifies ubiquitination substrates under differential control by the two ubiquitin activating enzymes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28134249", "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", "pmid": "28134249" }, { "title": "LMO2 blocks the UBA6-USE1 interaction and downstream FAT10ylation by targeting the ubiquitin fold domain of UBA6.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27569286", "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", "pmid": "27569286" }, { "title": "Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26284580", "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", "pmid": "26284580" }, { "title": "Disruption of FAT10-MAD2 binding inhibits tumor progression.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25422469", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1/publications", "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", "pmid": "25422469" }, { "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.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22999844", "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", "pmid": "22999844" }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1/publications", "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", "pmid": "19608861" }, { "title": "Activating the ubiquitin family: UBA6 challenges the field.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18353650", "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", "pmid": "18353650" }, { "title": "UBE1L2, a novel E1 enzyme specific for ubiquitin.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17580310", "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", "pmid": "17580310" }, { "title": "Dual E1 activation systems for ubiquitin differentially regulate E2 enzyme charging.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17597759", "journal": "Nature", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0AVT1/publications", "id": "A0AVT1", "database": "UniProtKB" } ], "authors": "Jin J, Li X, Gygi SP, Harper JW", "date": "2007", "pmid": "17597759" }, { "title": "E1-L2 activates both ubiquitin and FAT10.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17889673", "journal": "Molecular cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0AVT1/publications", "id": "A0AVT1", "database": "UniProtKB" } ], "authors": "Chiu YH, Sun Q, Chen ZJ", "date": "2007", "pmid": "17889673" }, { "title": "Identification and characteristics of a novel E1 like gene nUBE1L in human testis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/15202508", "journal": "Acta biochimica et biophysica Sinica", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0AVT1/publications", "id": "A0AVT1", "database": "UniProtKB" } ], "authors": "Zhu H, Zhou ZM, Huo R, Huang XY, Lu L, Lin M, Wang LR, Zhou YD, Li JM, Sha JH", "date": "2004", "pmid": "15202508" } ], "glycosylation": [], "mutation": [ { "start_pos": 227, "subjects_positive": "25", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "1.7", "annotation": "Filters passed (2/5): patient freq. (1.7%); patient count (25/1514).", "sequence_org": "G", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "D", "subjects_tested": "1514", "end_pos": 227, "type": "Point mutation" }, { "start_pos": 222, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs778733309.", "sequence_org": "T", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "M", "subjects_tested": "228", "end_pos": 222, "type": "Point mutation" }, { "start_pos": 615, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Q", "subjects_tested": "50", "end_pos": 615, "type": "Point mutation" }, { "start_pos": 450, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "I", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 450, "type": "Point mutation" }, { "start_pos": 222, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "0.3", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs778733309.", "sequence_org": "T", "disease": { "doid": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "icd10": "", "name": "Cervical cancer" }, "sequence_mut": "M", "subjects_tested": "350", "end_pos": 222, "type": "Point mutation" }, { "start_pos": 937, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "A", "subjects_tested": "50", "end_pos": 937, "type": "Point mutation" }, { "start_pos": 287, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "I", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "T", "subjects_tested": "48", "end_pos": 287, "type": "Point mutation" }, { "start_pos": 781, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "D", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "H", "subjects_tested": "50", "end_pos": 781, "type": "Point mutation" }, { "start_pos": 241, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "A", "subjects_tested": "50", "end_pos": 241, "type": "Point mutation" }, { "start_pos": 630, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 630, "type": "Point mutation" }, { "start_pos": 530, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 530, "type": "Point mutation" }, { "start_pos": 377, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "H", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "R", "subjects_tested": "48", "end_pos": 377, "type": "Point mutation" }, { "start_pos": 140, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "F", "subjects_tested": "50", "end_pos": 140, "type": "Point mutation" }, { "start_pos": 222, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs778733309.", "sequence_org": "T", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "M", "subjects_tested": "1144", "end_pos": 222, "type": "Point mutation" }, { "start_pos": 959, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVT1", "id": "A0AVT1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "T", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "A", "subjects_tested": "66", "end_pos": 959, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1#A0AVT1-1", "isoform_ac": "A0AVT1-1", "locus": { "end_pos": 67619000, "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#H0Y9U5-1", "isoform_ac": "H0Y9U5-1", "locus": { "end_pos": 67622912, "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" } }, { "url": "https://www.uniprot.org/uniprot/A0AVT1#A0AVT1-2", "isoform_ac": "A0AVT1-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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#H0Y8S8-1", "isoform_ac": "H0Y8S8-1", "locus": { "end_pos": 67630454, "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#A0AVT1-3", "isoform_ac": "A0AVT1-3", "locus": { "end_pos": 67662126, "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": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?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": "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": "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": "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": "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": "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" } ] }, { "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": "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": "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" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8C7R4-1", "protein_name": "Ubiquitin-like modifier-activating enzyme 6; Ubiquitin-activating enzyme 6; 6.2.1.45; Ubiquitin-activating enzyme E1-like protein 2; E1-L2.", "sequence": { "length": 1053, "sequence": "MERSEPLAVLSCEEASCSSWGACGASKNLPTMTTESLEIDDGLYSRQRYVLGDTAMQKMAKSCVFLSGMGGLGVEIAKNLVLAGIKALTIHDTKKCQAWDLGTNFFLCEDDVVNERNRAEAVLHRIAELNPYVQVSSSSAPLDETTDLSFLEKYQCVVLTEIKLTLQKKINNFCHSHCPPIKFISADVHGIWSRLFCDFGDEFEVSDTTGEEPKEIFISNITQANPGIVTCLESHPHKLETGQFLTFREIHGMTGLNGSVQQITVISPFSFSIGDTTKLDPYLHGGIAVQVKTPKTFCFEPLESQIKHPRCLIADFSKPEAPLEIHLAMLALDQFQENYNRKPNIRCQQDSDELLKLTVSINETLEEKPEVNADIVHWLSWTAQGFLPPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADTVESLGNPGHEEFLPRGDRYDAIRACIGNTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTGREKGMVTVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAAEATLKINPQLKIDAHLNKVCPATESIYSDEFYTKQDIIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEIIVPQLTESYNSHRDPPEEEIPFCTLKSFPAAIEHTIQWARDKFESSFSHKPSLFNKFWQAYPSAEDVLQKIQNGQSLEGCFQVIKLLSRRPRIWSQCVELARLKFEKYFNHKALQLLHCFPLETRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQSAAKLYATVYCIPFSEKDLSVNSLMDILSEVKIEEFKPSNKVVQTDETARKPDHVPVSSEDERNAVFQLEEALSSNKATKSDLQMTVLSFEKDDDRNGHIDFITAASNLRAKMYSIEPADRFKTKRIAGKIIPAIATSTAAVSGLVALEMIKVAGGYPFDAYKNCFLNLAIPIIVFTETSEVRKTEIRNGISFTIWDRWTVHGKEDFTLSDFINAVKENYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPSTEKKYVDLTVSFAPDADGDEDLPGPPVRYYFSHDTNE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10080", "id": "10080", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "D4A8H3-1", "protein_name": "Similar to RIKEN cDNA 5730469D23 (Predicted); Ubiquitin-like modifier-activating enzyme 6.", "sequence": { "length": 1053, "sequence": "MERSEPLAVLSCEEASCSSWGACGASKNLPTMTTESLEIDDGLYSRQRYVLGDTAMQKMAKSCVFLSGMGGLGVEIAKNLVLAGIKALTIHDTKKCQAWDLGTNFFLCEDDVVNERNRAEAVLHRVAELNPYVQVSSSSAPFDETTDLSFLEKYQCVVLTETKLTLQKKINNFCHSHCPPIKFISTDVHGIWSRLFCDFGDEFEVSDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMAGLNGSVQQITVISPFSFSIGDTTELDPYLHGGIAVQVKTPKIFNFEPLESQIKHPKCLIADFSKPEAPLQIHVAMLALDQFQENYSRKPNIRCQQDSDELLKLTICISETLEEKPEVNADIVHWLSWTAQGFLPPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADTVESLGNLGHEEFLPRGDRYDAFRACIGNTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTGREKGMVTVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAAEATLKINPQLKIDAHLNKVCPATESTYSDEFYNKQDIVITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEIIVPQLTESYNSHRDPPEEEIPFCTLKSFPAAVEHTIQWARDKFESSFSHKPSLFNKFWQAYPSAEDVLQKIQNGQSLEGCFQVIKLLSRRPRMWSQCVELARLKFEKYFNHKALQLLHCFPLDTRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFSEKDLSVDSLMDILSEVKIQEFKPSNKVVQTDETARKPDHVPVSSEDERNAVFQLEKALSSNKATKSDLQMAVLSFEKDDDSNGHIDFITAASNLRAKMYNIEPADRFKTKRIAGKIIPAIATSTAAVSGLVALEMIKVAGGYPFDAYKNCFLNLAIPIIVFTETSEVRKTEIRNGISFTIWDRWTVHGKEDFTLSDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPSTEKKYVDLTVSFAPDADGDEDLPGPPVRYYFSHDTDE" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVT1/", "id": "A0AVT1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/10080", "id": "10080", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "ac": "NP_060697.4", "name": "ubiquitin-like modifier-activating enzyme 6; ubiquitin-activating enzyme E1-like 2; UBA6, ubiquitin-activating enzyme E1; monocyte protein 4; ubiquitin-activating enzyme 6; ubiquitin-activating enzyme E1-like protein 2.", "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]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004839", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "ubiquitin activating enzyme activity", "id": "GO:0004839" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019780", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "FAT10 activating enzyme activity", "id": "GO:0019780" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "cellular response to DNA damage stimulus", "id": "GO:0006974" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "protein ubiquitination", "id": "GO:0016567" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032446", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "protein modification by small protein conjugation", "id": "GO:0032446" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "learning", "id": "GO:0007612" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "locomotory behavior", "id": "GO:0007626" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "hippocampus development", "id": "GO:0021766" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "dendritic spine development", "id": "GO:0060996" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021764", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "amygdala development", "id": "GO:0021764" } ], "total": 9, "name": "Biological Process" } ] }, "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 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25581", "id": "25581", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A0AVT1", "id": "A0AVT1", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A0AVT1", "id": "NX_A0AVT1", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBA6", "id": "UBA6", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866652", "id": "R-HSA-8866652", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168", "id": "R-HSA-983168", "database": "Reactome" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:55236", "id": "hsa:55236", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/AQSHVFL/", "id": "AQSHVFL", "database": "OMA" }, { "url": "N/A", "id": "6.2.1.B9", "database": "BRENDA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000011", "id": "IPR000011", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000594", "id": "IPR000594", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035985", "id": "IPR035985", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018075", "id": "IPR018075", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018965", "id": "IPR018965", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019572", "id": "IPR019572", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR032418", "id": "IPR032418", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR032420", "id": "IPR032420", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR038252", "id": "IPR038252", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR042063", "id": "IPR042063", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR042302", "id": "IPR042302", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR042449", "id": "IPR042449", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF00899", "id": "PF00899", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09358", "id": "PF09358", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF10585", "id": "PF10585", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF16190", "id": "PF16190", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF16191", "id": "PF16191", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0AVT1", "id": "PR_A0AVT1", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AVT1*", "id": "A0AVT1", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/55236", "id": "55236", "database": "GeneID" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVT1", "id": "A0AVT1", "database": "BioXpress" } ] } ], "uniprot_ac": "A0AVT1", "disease": [], "mass": { "monoisotopic_mass": 117970.0, "chemical_mass": 117970.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000033178", "id": "ENSG00000033178", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "name": "UBA6; MOP4; UBE1L2; E1-L2; MOP-4.", "locus": { "end_pos": 67612652, "start_pos": 67701179, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000033178", "id": "ENSG00000033178", "database": "Ensembl Gene" } ] } } ] }