{ "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": [ "enzyme", "glycoprotein", "reported_with_glycan.oglcnac_db" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004839", "pmid": "21873635", "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", "pmid": "17889673", "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", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008641", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "ubiquitin-like modifier activating enzyme activity", "id": "GO:0008641" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "21873635", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "21873635", "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", "pmid": "17889673", "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", "pmid": "17889673", "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", "pmid": "21873635", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "amygdala development", "id": "GO:0021764" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVT1", "id": "A0AVT1", "database": "UniProtKB" } ], "name": "protein ubiquitination", "id": "GO:0016567" } ], "total": 10, "name": "Biological Process" } ] }, "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/H0Y8S8", "id": "H0Y8S8", "database": "UniProtKB" }, { "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/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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31692446", "type": "PubMed", "id": "31692446" } ], "title": "Negative regulation of autophagy by UBA6-BIRC6-mediated ubiquitination of LC3.", "journal": "eLife", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060697.4", "id": "NP_060697.4", "database": "RefSeq" } ], "authors": "Jia R, Bonifacino JS", "date": "2019" } ], "uniprot_ac": "A0AVT1", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVT1", "type": "synonym", "resource": "RefSeq", "name": "E1-L2; MOP-4; UBE1L2" }, { "url": "https://www.uniprot.org/uniprot/A0AVT1", "type": "synonym", "resource": "UniProtKB", "name": "MOP4" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AVT1", "type": "synonym", "resource": "RefSeq", "name": "UBA6" }, { "url": "https://www.uniprot.org/uniprot/A0AVT1", "type": "recommended", "resource": "UniProtKB", "name": "UBA6" }, { "url": "https://www.uniprot.org/uniprot/A0AVT1", "type": "synonym", "resource": "UniProtKB", "name": "UBE1L2" } ], "reactions": [ { "source": "Reactome", "output_participant_list": [], "name": "UBA6 conjugates ubiquitin to cytosolic E2 enzymes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852127", "cellular_location": "extracellular region", "input_participant_list": [], "enzyme_list": [ "A0AVT1-1", "Q9H832-1", "Q969T4-1", "Q16763-1", "P60604-1", "P68036-1", "P51668-1", "P62837-1" ], "id": "R-HSA-8852127", "summary": "In the cytosol, the UBA6-ubiquitin thiol ester conjugate transfers ubiquitin from UBA6 to an internal cysteine residue of the E2 enzyme, forming a thiol ester conjugate between ubiquitin and the cysteine residue of E2 (Jin et al. 2007, inferred from the rabbit homologue in Hershko et al. 1983, reviewed in Groettrup et al. 2008). As inferred from UBA1, the E2 then disengages from UBA6 (Eletr et al. 2005)." }, { "source": "Reactome", "output_participant_list": [], "name": "Ub-Cys625-UBA6 adenylates ubiquitin in the cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8865050", "cellular_location": "extracellular region", "input_participant_list": [], "enzyme_list": [ "A0AVT1-1" ], "id": "R-HSA-8865050", "summary": "As inferred from the homologous UBA1, activation of ubiquitin by UBA6 (UBE1L1) proceeds through 3 steps: adenylation of ubiquitin, conjugation of ubiquitin from adenyl-ubiquitin to an internal cysteine residue of UBA6, and adenylation of a second molecule of ubiquitin. In the third step, the UBA6-ubiquitin conjugate adenylates the C-terminal glycine of a second ubiquitin molecule. This results in UBA6 loaded with 2 ubiquitin molecules, one of which is conjugated to an internal cysteine residue of UBA6 and one of which is adenylated and non-covalently bound to UBA6 (Jin et al. 2007, Pelzer et al. 2007, reviewed in Groettrup et al. 2008)." }, { "source": "Reactome", "output_participant_list": [], "name": "UBA6 adenylates ubiquitin in the cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8865090", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-947701" ], "enzyme_list": [ "A0AVT1-1" ], "id": "R-HSA-8865090", "summary": "As inferred from the homologous UBA1, activation of ubiquitin by UBA6 (UBE1L1) proceeds through 3 steps: adenylation of ubiquitin, conjugation of ubiquitin from adenyl-ubiquitin to an internal cysteine residue of UBA6, and adenylation of a second molecule of ubiquitin. In the first step, the adenylation module of UBA6 catalyzes the acyl-adenylation of the C-terminal glycine of ubiquitin (Jin et al. 2007, Pelzer et al. 2007, Groettrup et al. 2008)." }, { "source": "Reactome", "output_participant_list": [], "name": "UBA6 conjugates ubiquitin to UBA6 in the cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8865098", "cellular_location": "extracellular region", "input_participant_list": [], "enzyme_list": [ "A0AVT1-1" ], "id": "R-HSA-8865098", "summary": "As inferred from the homologous UBA1, activation of ubiquitin by UBA6 (UBE1L1) proceeds through 3 steps: adenylation of ubiquitin, conjugation of ubiquitin from adenyl-ubiquitin to an internal cysteine residue of UBA6, and adenylation of a second molecule of ubiquitin. In the second step, the thiol group of an internal cysteine residue of UBA6 attacks the acyl-adenyl bond of the C-terminal glycine of adenylated ubiquitin, resulting in a thioester bond between the cysteine residue and the C-terminal glycine of ubiquitin (Jin et al. 2007, Pelzer et al. 2007, reviewed in Groettrup et al. 2008)." }, { "source": "Reactome", "output_participant_list": [], "name": "Transfer of ubiquitin from E1 to E2", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983152", "cellular_location": "extracellular region", "input_participant_list": [], "enzyme_list": [ "A0AVT1-1", "Q9H832-1", "Q969T4-1", "Q7Z7E8-1", "Q9Y2X8-1", "P49427-1", "P61081-1", "P22314-1", "Q5VVX9-1", "Q16763-1", "P60604-1", "Q712K3-1", "O14933-1", "P68036-1", "Q96LR5-1", "P49459-1", "Q9C0C9-1", "P51668-1", "P61077-1", "P51965-1", "P61088-1", "P62837-1", "P62253-1", "Q9Y385-1", "P61086-1", "Q8TBC4-1", "P62256-1", "Q96B02-1", "P63146-1", "Q8N2K1-1", "Q969M7-1", "O00762-1", "Q8WVN8-1" ], "id": "R-HSA-983152", "summary": "Activated ubiquitin is transferred from E1 to the active site cystine of ubiquitin conjugating enzymes (E2s) via a trans-esterification reaction. E2s catalyze covalent attachment of ubiquitin to target proteins. They all share an active-site ubiquitin-binding cysteine residue and are distinguished by the presence of a ubiquitin-conjugating catalytic (UBC) fold required for binding of distinct ubiquitin ligases or E3s. Once conjugated to ubiquitin, the E2 molecule binds one of several E3s (Glickman et al. 2002)." }, { "source": "Reactome", "output_participant_list": [], "name": "E1 mediated ubiquitin activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983153", "cellular_location": "extracellular region", "input_participant_list": [], "enzyme_list": [ "A0AVT1-1", "P22314-1", "Q8TBC4-1" ], "id": "R-HSA-983153", "summary": "Ubiquitin is activated in an ATP-dependent manner, catalyzed by E1 ubiquitin-activating enzymes. In the first step of ubiquitin activation, the E1 enzyme binds ATP, Mg+2 and ubiquitin, and catalyses ubiquitin C-terminal acyl-adenylation (Ubiquitin-AMP). In the second step, the catalytic cystine in the E1 attacks the ubiquitin-adenylate (Ub-AMP) to form the activated ubiquitin-E1 thioester-bonded complex and an AMP leaving group. The intermediate reaction involving the formation of the ubiquitin-AMP complex is not represented here." } ], "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": "" }, { "reaction_list": [ "R-HSA-8852127", "R-HSA-8852128", "R-HSA-8852129", "R-HSA-8852130", "R-HSA-8852131", "R-HSA-8852132", "R-HSA-8852133", "R-HSA-8852134", "R-HSA-8852136", "R-HSA-8853503", "R-HSA-8853514", "R-HSA-8853515", "R-HSA-8853529", "R-HSA-8865050", "R-HSA-8865090", "R-HSA-8865098" ], "resource": "Reactome", "description": "Synthesis of active ubiquitin: roles of E1 and E2 enzymes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866652", "id": "R-HSA-8866652", "name": "Synthesis of active ubiquitin: roles of E1 and E2 enzymes" }, { "reaction_list": [ "R-HSA-8940641", "R-HSA-983140", "R-HSA-983147", "R-HSA-983150", "R-HSA-983152", "R-HSA-983153", "R-HSA-983156", "R-HSA-983157", "R-HSA-983162" ], "resource": "Reactome", "description": "Antigen processing: Ubiquitination & Proteasome degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168", "id": "R-HSA-983168", "name": "Antigen processing: Ubiquitination & Proteasome degradation" } ], "reaction_participants": [ { "crossref": [ { "url": "", "id": "A0AVT1", "database": "UniProt" }, { "url": "", "id": "UBA6_HUMAN", "database": "ZINC - Predictions - Purchasable" }, { "url": "", "id": "ENST00000322244", "database": "Ensembl" }, { "url": "", "id": "ENST00000420827", "database": "Ensembl" }, { "url": "", "id": "A0AVT1", "database": "GeneCards" }, { "url": "", "id": "HMDBP09292", "database": "HMDB Protein" }, { "url": "", "id": "UBA6_HUMAN", "database": "ZINC - Substances" }, { "url": "", "id": "NP_060697.4", "database": "RefSeq" }, { "url": "", "id": "A0AVT1", "database": "ZINC target" }, { "url": "", "id": "ENSG00000033178-UBA6", "database": "HPA" }, { "url": "", "id": "ENSG00000033178", "database": "OpenTargets" }, { "url": "", "id": "ENSP00000313454", "database": "Ensembl" }, { "url": "", "id": "ENSP00000399234", "database": "Ensembl" }, { "url": "", "id": "A0AVT1", "database": "PRO" }, { "url": "", "id": "ENSG00000033178", "database": "Ensembl" } ], "participant_name": "UBA6 [cytosol]", "participant_id": "R-HSA-947701" } ], "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": "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": "These findings demonstrate that UBA6 and BIRC6 negatively regulate autophagy by limiting the availability of LC3B. 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": "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": "E1 ubiquitin-activating enzyme", "sequence": { "length": 1053, "sequence": "MERSEPLAVLSCEEASCSSWGACGASKNLPTMTTESLEIDDGLYSRQRYVLGDTAMQKMAKSCVFLSGMGGLGVEIAKNLVLAGIKALTIHDTKKCQAWDLGTNFFLCEDDVVNERNRAEAVLHRVAELNPYVQVSSSSAPFDETTDLSFLEKYQCVVLTETKLTLQKKINNFCHSHCPPIKFISTDVHGIWSRLFCDFGDEFEVSDTTGEEPKEIFISNITQANPGIVTCLENHPHKLETGQFLTFREINGMAGLNGSVQQITVISPFSFSIGDTTELDPYLHGGIAVQVKTPKIFNFEPLESQIKHPKCLIADFSKPEAPLQIHVAMLALDQFQENYSRKPNIRCQQDSDELLKLTICISETLEEKPEVNADIVHWLSWTAQGFLPPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLEAADTVESLGNLGHEEFLPRGDRYDAFRACIGNTLCQKLQNLNIFLVGCGAIGCEMLKNFALLGVGTGREKGMVTVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAAEATLKINPQLKIDAHLNKVCPATESTYSDEFYNKQDIVITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHTEIIVPQLTESYNSHRDPPEEEIPFCTLKSFPAAVEHTIQWARDKFESSFSHKPSLFNKFWQAYPSAEDVLQKIQNGQSLEGCFQVIKLLSRRPRMWSQCVELARLKFEKYFNHKALQLLHCFPLDTRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFSEKDLSVDSLMDILSEVKIQEFKPSNKVVQTDETARKPDHVPVSSEDERNAVFQLEKALSSNKATKSDLQMAVLSFEKDDDSNGHIDFITAASNLRAKMYNIEPADRFKTKRIAGKIIPAIATSTAAVSGLVALEMIKVAGGYPFDAYKNCFLNLAIPIIVFTETSEVRKTEIRNGISFTIWDRWTVHGKEDFTLSDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPSTEKKYVDLTVSFAPDADGDEDLPGPPVRYYFSHDTDE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10080", "id": "10080", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Uba6", "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", "gene_name": "Uba6", "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": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; 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