{ "uniprot_canonical_ac": "A0A0G2K449-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2K449-1|A0A0G2K449_RAT Isoform 1 of Collagen type XVII alpha 1 chain OS=Rattus norvegicus OX=10116 GN=Col17a1 PE=4 SV=1 CANONICAL=A0A0G2K449-1", "length": 1465, "sequence": "MDVTKKSMRDGTEVTERIVTETVTTRLTSLPPKGSTSNGYTKTGSLGGGSRLEKQSLTHGSSGYINSSGSLRGNASTSSYRRAHSPASTLPNSPGSTFERKTHMSRHGTYEGSSSGNSSPEYPRKELASSSTRGRSQTRESEIRVRLQSASPSTRWTELDEVKRLLKGSRSASASPTRNTSNTLPIPKKGTVETKTVTASSHSVSGTYDSTILDSNFPPHMWSSTLPAGSSMGTYHNNIATQSTSLVNTNAYSAGSVFGVPNNMASCSPTLHPGLSSCSSVFGMQNNLAPCSSVLSHGTTTASTAYGVKKNVPQPPTVTSTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNVPAKKEMELLIMSKDSGKVFTASPASISSTSFSEDTLKKEKQAAYAADTCLKADVNGDLNTVSTKSKAISAENHSYDRGVGGGRGKSGVAGGGGGGGGGGSGGGTWGAAPAWCPCGSCCSWWKWLLGLLLTWLLLLGLLFGLIALAEEVRKLKARVEELEKTKVLYHDIVKTDRSSRDRLQGEAPSLGPGLSKAEMDDYGQEAIWLFVRNKLMTEQENGNLRGSPGPKGDTGSQGPKGDRGLPGIPGTPGPLGHPGPEGPKGQKGSIGDPGMEGPIGQRGLAGPMGPPGEPGPPGSGEKGDRGIAGEQGPRGLPGVPGSPGLRGTSGSPGPQGPPGSVGPQGLRGEVGLPGVKGDKGLVGPPGPKGDQGEKGPRGLTGEPGIRGLPGAVGEPGAKGAMGPAGPDGQQGSRGEQGLTGMPGARGPPGPTGDPGKPGLTGPQGPQGLPGTPGRPGTKGEPGAPGRVMTSEGSSAITVPGPPGPPGAMGPPGPPGTPGPAGPAGLPGQQGPRGEPGLAGDSFLNSGSSISEVLSAQGVDFRGPPGPPGPRGPPGPSIPGPPGPRGPPGEGVPGPPGPPGSFLTDSETFFSGPPGPPGPPGPKGDQGDPGVPGTPGIPGGLSHGTSSGTMYAQGPPGPPGPPGPPGSLSSSGQELQRYIAEYMQSDNIRTYLSGVQGPPGPPGPPGPVITITGETFDYSQLASQVVSYLRSSGYGVGLSSASSSEDILAMLRRNDVWQYLRQHLVGPPGPPGPPGVSGDGSLLSLDYGELSRHILNYMSSSGISFGHPGPPGPPGLPGTSYEELLTMLRGSDYRDIIGPPGPPGPPGIPGSAWSSISVEDLSSYLHTAGLSSIAGPPGPPGPPGPRGPPGVSAALATYAAENSDNFRSELISYLTSPDVRSFIVGPPGPPGPQGPPGDYNWGSGSSARRGTSYSSSMGTGRTNGGSLGEGGAFGAGDGGPYGTDVGPGGGYGAAAGGGVYGTNGESFRGSFTGDLDYNTLALRVSESMQRQGLLQGMAYTVQGPPGPQGPPGISKVFSAYSNVTQDLMDFFRTYGAIPGPPGQKGDMGTPGPKGDRGPAGPRGPPGPPGPRGNKGEKGDKGDQVYTGRRKRSIAIKP" }, "uniprot_id": "A0A0G2K449_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [], "uniprot_ac": "A0A0G2K449", "site_annotation": [ { "end_pos": 119, "annotation": "n_glycosylation_sequon", "start_pos": 117 }, { "end_pos": 1392, "annotation": "n_glycosylation_sequon", "start_pos": 1390 }, { "end_pos": 181, "annotation": "n_glycosylation_sequon", "start_pos": 179 }, { "end_pos": 427, "annotation": "n_glycosylation_sequon", "start_pos": 425 }, { "end_pos": 68, "annotation": "n_glycosylation_sequon", "start_pos": 66 }, { "end_pos": 76, "annotation": "n_glycosylation_sequon", "start_pos": 74 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449#A0A0G2K449-1", "isoform_ac": "A0A0G2K449-1", "locus": { "end_pos": 267418315, "strand": "+", "start_pos": 267457532, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000084851", "id": "ENSRNOT00000084851", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000072907", "id": "ENSRNOP00000072907", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2K449-1|A0A0G2K449_RAT Isoform 1 of Collagen type XVII alpha 1 chain OS=Rattus norvegicus OX=10116 GN=Col17a1 PE=4 SV=1 CANONICAL=A0A0G2K449-1", "length": 1465, "sequence": "MDVTKKSMRDGTEVTERIVTETVTTRLTSLPPKGSTSNGYTKTGSLGGGSRLEKQSLTHGSSGYINSSGSLRGNASTSSYRRAHSPASTLPNSPGSTFERKTHMSRHGTYEGSSSGNSSPEYPRKELASSSTRGRSQTRESEIRVRLQSASPSTRWTELDEVKRLLKGSRSASASPTRNTSNTLPIPKKGTVETKTVTASSHSVSGTYDSTILDSNFPPHMWSSTLPAGSSMGTYHNNIATQSTSLVNTNAYSAGSVFGVPNNMASCSPTLHPGLSSCSSVFGMQNNLAPCSSVLSHGTTTASTAYGVKKNVPQPPTVTSTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNVPAKKEMELLIMSKDSGKVFTASPASISSTSFSEDTLKKEKQAAYAADTCLKADVNGDLNTVSTKSKAISAENHSYDRGVGGGRGKSGVAGGGGGGGGGGSGGGTWGAAPAWCPCGSCCSWWKWLLGLLLTWLLLLGLLFGLIALAEEVRKLKARVEELEKTKVLYHDIVKTDRSSRDRLQGEAPSLGPGLSKAEMDDYGQEAIWLFVRNKLMTEQENGNLRGSPGPKGDTGSQGPKGDRGLPGIPGTPGPLGHPGPEGPKGQKGSIGDPGMEGPIGQRGLAGPMGPPGEPGPPGSGEKGDRGIAGEQGPRGLPGVPGSPGLRGTSGSPGPQGPPGSVGPQGLRGEVGLPGVKGDKGLVGPPGPKGDQGEKGPRGLTGEPGIRGLPGAVGEPGAKGAMGPAGPDGQQGSRGEQGLTGMPGARGPPGPTGDPGKPGLTGPQGPQGLPGTPGRPGTKGEPGAPGRVMTSEGSSAITVPGPPGPPGAMGPPGPPGTPGPAGPAGLPGQQGPRGEPGLAGDSFLNSGSSISEVLSAQGVDFRGPPGPPGPRGPPGPSIPGPPGPRGPPGEGVPGPPGPPGSFLTDSETFFSGPPGPPGPPGPKGDQGDPGVPGTPGIPGGLSHGTSSGTMYAQGPPGPPGPPGPPGSLSSSGQELQRYIAEYMQSDNIRTYLSGVQGPPGPPGPPGPVITITGETFDYSQLASQVVSYLRSSGYGVGLSSASSSEDILAMLRRNDVWQYLRQHLVGPPGPPGPPGVSGDGSLLSLDYGELSRHILNYMSSSGISFGHPGPPGPPGLPGTSYEELLTMLRGSDYRDIIGPPGPPGPPGIPGSAWSSISVEDLSSYLHTAGLSSIAGPPGPPGPPGPRGPPGVSAALATYAAENSDNFRSELISYLTSPDVRSFIVGPPGPPGPQGPPGDYNWGSGSSARRGTSYSSSMGTGRTNGGSLGEGGAFGAGDGGPYGTDVGPGGGYGAAAGGGVYGTNGESFRGSFTGDLDYNTLALRVSESMQRQGLLQGMAYTVQGPPGPQGPPGISKVFSAYSNVTQDLMDFFRTYGAIPGPPGQKGDMGTPGPKGDRGPAGPRGPPGPPGPRGNKGEKGDKGDQVYTGRRKRSIAIKP" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K449#D3ZSH7-1", "isoform_ac": "D3ZSH7-1", "locus": { "end_pos": 267418315, "strand": "+", "start_pos": 267457532, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000016645", "id": "ENSRNOT00000016645", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000016645", "id": "ENSRNOP00000016645", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D3ZSH7-1|A0A0G2K449_RAT Computationally mapped isoform of Collagen type XVII alpha 1 chain OS=Rattus norvegicus OX=10116 GN=Col17a1 PE=4 SV=2 CANONICAL=A0A0G2K449-1", "length": 1427, "sequence": "MDVTKKSMRDGTEVTERIVTETVTTRLTSLPPKGSTSNGYTKTGSLGGGSRLEKQSLTHGSSGYINSSGSLRGNASTSSYRRAHSPASTLPNSPGSTFERKTHMSRHGTYEGSSSGNSSPEYPRKELASSSTRGRSQTRESEIRVRLQSASPSTRWTELDEVKRLLKGSRSASASPTRNTSNTLPIPKKGTVETKTVTASSHSVSGTYDSTILDSNFPPHMWSSTLPAGSSMGTYHNNIATQSTSLVNTNAYSAGSVFGVPNNMASCSPTLHPGLSSCSSVFGMQNNLAPCSSVLSHGTTTASTAYGVKKNVPQPPTVTSTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNVPAKKEMELLIMSKDSGKVFTASPASISSTSFSEDTLKKEKQAAYAADTCLKADVNGDLNTVSTKSKAISAENHSYDRGVGGGRGKSGVAGGGGGGGGGGSGGGTWGAAPAWCPCGSCCSWWKWLLGLLLTWLLLLGLLFGLIALAEEVRKLKARVEELEKTKVLYHDIVKTDRSSRDRLQGEAPSLGPGLSKAEMDDYGQEAIWLFVRNKLMTEQENGNLRGSPGPKGDTGSQGPKDRGLPGIPGTPGPLGHPGPEGPKGQKGSIGDPGMEGPIGQRGLAGPMGPPGEPGPPGSGEKGDRGIAGEQGPRGLPGVPGSPGLRGTSGSPGPQGPPGSVGPQGLRGEVGLPGVKGDKGLVGPPGPKGDQGEKGPRGLTGEPGIRGLPGAVGEPGAKGAMGPAGPDGQQGSRGEQGLTGMPGARGPPGPTGDPGKPGLTGPQGPQGLPGTPGRPGTKGEPGAPGRVMTSEGSSAITVPGPPGPPGAMGPPGPPGTPGPAGPAGLPGQQGPRGEPGLAGDSFLNSGSSISEVLSAQGVDFRGPPGPPGPRGPPGPSIPGPPGPRGPPGEGVPGPPGPPGSFLTDSETFFSGPPGPPGPPGPKGDQGDPGVPGTPGIPGGLSHGTSSGTMYAQGPPGPPGPPGPPGSLSSSGQELQRYIAEYMQSDNIRTYLSGVQGPPGPPGPPGPVITITGETFDYSQLASQVVSYLRSSGYGVGLSSASSSEDILAMLRRNDVWQYLRQHLVGPPGPPGPPGVSGDGSLLSLDYGELSRHILNYMSSSGISFGHPGPPGPPGLPGTSYEELLTMLRAAGLSSIAGPPGPPGPPGPRGPPGVSAALATYAAENSDNFRSELISYLTSPDVRSFIVGPPGPPGPQGPPGDYNWGSGSSARRGTSYSSSMGTGRTNGGSLGEGGAFGAGDGGPYGTDVGPGGGYGAAAGGGVYGTNGESFRGSFTGDLDYNTLALRVSESMQRQGLLQGMAYTVQGPPGPQGPPGISKVFSAYSNVTQDLMDFFRTYGAIPGPPGQKGDMGTPGPKGDRGPAGPRGPPGPPGPRGNKGEKGDKGDQVYTGRRKRSIAIKP" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1650814", "resource": "Reactome", "id": "R-RNO-1650814", "name": "Collagen biosynthesis and modifying enzymes" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2022090", "resource": "Reactome", "id": "R-RNO-2022090", "name": "Assembly of collagen fibrils and other multimeric structures" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-446107", "resource": "Reactome", "id": "R-RNO-446107", "name": "Type I hemidesmosome assembly" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8948216", "resource": "Reactome", "id": "R-RNO-8948216", "name": "Collagen chain trimerization" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q07563-1", "protein_name": "Collagen alpha-1(XVII) chain", "sequence": { "length": 1470, "sequence": "MDVTKKSKRDGTEVTERIVTETVTTRLTSLPPKGSTSNGYAKTGSLGGGSRLEKQSLTHGSSGYINSSGSIRGNASTSSYRRTHSPASTLPNSPGSTFERKAHMTRHGTYEGSSSGNSSPEYPRKELASSSTRGRSQTRESEIRVRLQSASPSTRWTELDEVKRLLKGSRSASASPTRNTSNTLPIPKKGTVETKTVTASSHSVSGTYDSAILDTNFPPHMWSSTLPAGSSLGTYQNNITAQSTSLLNTNAYSTGSVFGVPNNMASCSPTLHPGLSSCSSVFGMQNNLAPSSSVLSHGTTTASTAYGAKKNVPQPPTVTSTGVSTSATCTTSVQSDDLLHKDCKFLILEKDNTPAKKEMELLIMTKDSGKVFTASPATISSTSFSEDTLKKEKQAAYAADTCLKADVNGDLNTVSTKSKMTSAENHGYDRGGGGGRGKGGGAGGGGGGGGASGGGGAWGAAPAWCPCGSCCSWWKWLLGLLLTWLLLLGLLFGLIALAEEVRKLKARVEELEKTKVLYHDVQMDKSNRDRLQAEAPSLGPGLGKAELDGYSQEAIWLFVRNKLMTEQENGNLRGSPGPKGDMGSQGPKGDRGLPGTPGIPGPLGHPGPEGPKGQKGSIGDPGMEGPIGQRGLAGPMGPRGEPGPPGSGEKGDRGIAGEQGPQGLPGVPGPPGLRGHSGSPGPQGPPGAVGPQGLRGDVGLPGVKGDKGLMGPPGPKGDQGEKGPRGLTGEPGIRGLPGAVGEPGAKGAMGPAGADGQQGSRGEQGLTGMPGTRGPPGPAGDPGKPGLTGPQGPQGLPGSPGRPGTKGEPGAPGRVMTSEGSSTITVPGPPGPPGAMGPPGPPGTPGPAGPAGLPGQQGPRGEPGLAGDSFLSSGSSISEVLSAQGVDLRGPPGPPGPRGPPGPSIPGPPGPRGPPGEGVPGPPGPPGSFLTDSETFFTGPPGPPGPPGPKGDQGDPGVPGTPGISGGLSHGASSSTLYMQGPPGPPGPPGPPGSLSSSGQDIQHYIAEYMQSDNIRTYLSGVQGPPGPPGPPGPVITITGETFDYSQLASQVVSYLRSSGYGAGLSSASSSEDILAMLRRNDVWQYLRQNLVGPPGPPGPPGVSGDGSLLSLDYGELSRHILNYMSSSGISFGHPGPPGPPGLPGTSYEELLTMLRGSDYRNIIGPPGPPGPPGMPGNAWSSISVEDLSSYLHTAGLSSIPGPPGPPGPPGPRGPPGVSAALSTYAAENSDNFRSELISYLTSPDVRSFIVGPPGPPGPQGPPGDGHLRENYNWSSNSSARRGTSYSSSTGTGGTNGGSLGEGGAYGAGDGGPYGTDIGPGGGYGAAAGGGIYGTNGDSFRDGFTGDLDYNKLAVRVSESMQRQGLLQGMAYTVQGPPGPQGPPGISRVFSAYSNVTQDLMDFFQTYGTIPGPPGQKGDVGTPGPKGDRGPAGPRGPPGPPGPRGNKGEKGDKGDQVYTGRRKRSIAIKP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/7276", "id": "7276", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0A0G2K449/", "id": "A0A0G2K449", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Col17a1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006231538.1", "ac": "XP_006231538.1", "name": "collagen alpha-1(XVII) chain isoform X1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "extracellular matrix structural constituent", "id": "GO:0005201" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "extracellular space", "id": "GO:0005615" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "extracellular matrix", "id": "GO:0031012" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "hemidesmosome", "id": "GO:0030056" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "extracellular matrix organization", "id": "GO:0030198" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031581", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "name": "hemidesmosome assembly", "id": "GO:0031581" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K449", "type": "synonym", "resource": "RefSeq", "name": "Col17a1" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "type": "recommended", "resource": "UniProtKB", "name": "Col17a1" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000012110", "id": "ENSRNOG00000012110", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/294027", "id": "294027", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR008160", "id": "IPR008160", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/LQGSEYR/", "id": "LQGSEYR", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=718661at2759", "id": "718661at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF01391", "id": "PF01391", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1650814", "id": "R-RNO-1650814", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2022090", "id": "R-RNO-2022090", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-446107", "id": "R-RNO-446107", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8948216", "id": "R-RNO-8948216", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006231538.1", "id": "XP_006231538.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1311130", "id": "1311130", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "id": "A0A0G2K449", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "junctional epidermolysis bullosa, non-Herlitz type", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "JEB-nH", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa Junctionalis, progressive", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "JEB-I", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa, generalized atrophic benign", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa Junctionalis, severe Nonlethal", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "junctional epidermolysis bullosa inversa", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa, junctional, non-Herlitz type", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "JEN-nH", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa Junctionalis, Disentis type", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa, junctional, Localisata variant", "description": "" }, { "id": "MONDO:0009180", "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "name": "epidermolysis bullosa Junctionalis, non-Herlitz type", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "junctional epidermolysis bullosa generalisata mitis", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "GABEB", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "JEB-nH gen", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "JEN-nH", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "generalized atrophic benign epidermolysis bullosa", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "junctional epidermolysis bullosa, Disentis type", "description": "" }, { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "generalized junctional epidermolysis bullosa, non-Herlitz type", "description": "" } ], "recommended_name": { "id": "DOID:0060738", "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "name": "junctional epidermolysis bullosa non-Herlitz type", "description": "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060738#disease-associations", "id": "0060738", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007381", "url": "https://monarchinitiative.org/disease/MONDO:0007381", "resource": "MONDO", "name": "recurrent hereditary corneal erosions", "description": "" }, { "id": "MONDO:0007381", "url": "https://monarchinitiative.org/disease/MONDO:0007381", "resource": "MONDO", "name": "dystrophia Smolandiensis", "description": "" }, { "id": "MONDO:0007381", "url": "https://monarchinitiative.org/disease/MONDO:0007381", "resource": "MONDO", "name": "ERED", "description": "" }, { "id": "MONDO:0007381", "url": "https://monarchinitiative.org/disease/MONDO:0007381", "resource": "MONDO", "name": "dystrophia Helsinglandica", "description": "" }, { "id": "MONDO:0007381", "url": "https://monarchinitiative.org/disease/MONDO:0007381", "resource": "MONDO", "name": "epithelial recurrent erosion dystrophy; ERED", "description": "" }, { "id": "MONDO:0007381", "url": "https://monarchinitiative.org/disease/MONDO:0007381", "resource": "MONDO", "name": "corneal erosions, recurring hereditary", "description": "" }, { "id": "DOID:0070337", "url": "http://disease-ontology.org/term/DOID:0070337", "resource": "Disease Ontology", "name": "COL17A1", "description": "" }, { "id": "DOID:0070337", "url": "http://disease-ontology.org/term/DOID:0070337", "resource": "Disease Ontology", "name": "ERED", "description": "" } ], "recommended_name": { "id": "DOID:0070337", "url": "http://disease-ontology.org/term/DOID:0070337", "resource": "Disease Ontology", "name": "epithelial recurrent erosion dystrophy", "description": "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0070337#disease-associations", "id": "0070337", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3209", "url": "http://disease-ontology.org/term/DOID:3209", "resource": "Disease Ontology", "name": "congenital junctional epidermolysis bullosa", "description": "" } ], "recommended_name": { "id": "DOID:3209", "url": "http://disease-ontology.org/term/DOID:3209", "resource": "Disease Ontology", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3209#disease-associations", "id": "3209", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:8506", "url": "http://disease-ontology.org/term/DOID:8506", "resource": "Disease Ontology", "name": "bullous pemphigoid", "description": "An autoimmune disease of skin and connective tissue characterized by large blisters." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/8506#disease-associations", "id": "8506", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 147416.0, "chemical_mass": 147416.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449", "name": "Col17a1", "locus": { "end_pos": 267417459, "strand": "-", "start_pos": 267463705, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000012110", "id": "ENSRNOG00000012110", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K449#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Collagen type XVII alpha 1 chain" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K449", "type": "synonym", "resource": "RefSeq", "name": "collagen alpha-1(XVII) chain isoform X1" } ] }