{ "uniprot_canonical_ac": "A2A863-1", "ptm_annotation": [ { "annotation": "Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/P16144", "id": "P16144", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2A863-1|ITB4_MOUSE Isoform 1 of Integrin beta-4 OS=Mus musculus OX=10090 GN=Itgb4 PE=1 SV=1 CANONICAL=A2A863-1", "length": 1818, "sequence": "MAGPCCSPWVKLLLLAAMLSASLPGDLANRCKKAQVKSCTECIRVDKSCAYCTDELFKERRCNTQAELLAAGCRGESILVMESSLEITENTQIDTSLHRSQVSPQGLQVRLRPGEERSFVFQVFEPLESPVDLYILMDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTENVEEFWNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDASGAYTQYKTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHKYFPVSSLGVLQEDSSNIVELLEEAFYRIRSNLDIRALDSPRGLRTEVTSDTLQKTETGSFHIKRGEVGTYNVHLRAVEDIDGTHVCQLAKEDQGGNIHLKPSFSDGLRMDASVICDVCPCELQKEVRSARCHFRGDFMCGHCVCNEGWSGKTCNCSTGSLSDTQPCLREGEDKPCSGHGECQCGRCVCYGEGRYEGHFCEYDNFQCPRTSGFLCNDRGRCSMGECVCEPGWTGRSCDCPLSNATCIDSNGGICNGRGYCECGRCHCNQQSLYTDTTCEINYSAIRLGLCEDLRSCVQCQAWGTGEKKGRACDDCPFKVKMVDELKKAEEVVEYCSFRDEDDDCTYSYNVEGDGSPGPNSTVLVHKKKDCPPGSFWWLIPLLIFLLLLLALLLLLCWKYCACCKACLGLLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDTVRWKITNNVQRPGFATHAASTSPTELVPYGLSLRLGRLCTENLMKPGTRECDQLRQEVEENLNEVYRQVSGAHKLQQTKFRQQPNTGKKQDHTIVDTVLLAPRSAKQMLLKLTEKQVEQGSFHELKVAPGYYTVTAEQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPVGTATLGRRLVNITIIKEQASGVVSFEQPEYSVSRGDQVARIPVIRHILDNGKSQVSYSTQDNTAHGHRDYVPVEGELLFHPGETWKELQVKLLELQEVDSLLRGRQVRRFQVQLSNPKFGARLGQPSTTTVILGEHDETDRSLINQTLSSPPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPPGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNEDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQGGEDYENFLMYSDDVLRSPASSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRSDEDGSVAGGVEGEGSGWIRGATPRPPGEHLVNGRMDFAYPGSANSLHRMTAANVAYGTHLSPHLSHRVLSTSSTLTRDYHSLTRTEHSHSGTLPRDYSTLTSLSSQDSRGAVGVPDTPTRLVFSALGPTSLKVSWQEPQCDRMLLGYSVEYQLLNGGEMHRLNIPNPGQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDILGYLVTCEMAQGGAPARTFRVDGDNPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQVGGPFPQLGSHSGLFQNPVQSEFSSVTSTHSTTTEPFLMDGLTLGTQRLEAGGSLTRHVTQEFVTRTLTASGSLSTHMDQQFFQT" }, "uniprot_id": "", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "integrin binding", "id": "GO:0005178" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "G protein-coupled receptor binding", "id": "GO:0001664" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038132", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "neuregulin binding", "id": "GO:0038132" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031994", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "insulin-like growth factor I binding", "id": "GO:0031994" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "focal adhesion", "id": "GO:0005925" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "pmid": "16436605", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell surface", "id": "GO:0009986" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "pmid": "23382219", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "receptor complex", "id": "GO:0043235" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "pmid": "17011173", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "basement membrane", "id": "GO:0005604" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "pmid": "11891657", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "basal plasma membrane", "id": "GO:0009925" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "pmid": "21464233", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "basal plasma membrane", "id": "GO:0009925" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "pmid": "22274697", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "hemidesmosome", "id": "GO:0030056" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "pmid": "21606200", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "hemidesmosome", "id": "GO:0030056" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "pmid": "8707838", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "integrin complex", "id": "GO:0008305" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell cortex", "id": "GO:0005938" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell junction", "id": "GO:0030054" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell leading edge", "id": "GO:0031252" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "nuclear membrane", "id": "GO:0031965" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell surface", "id": "GO:0009986" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "hemidesmosome", "id": "GO:0030056" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "integrin complex", "id": "GO:0008305" } ], "total": 20, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "pmid": "8707838", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell adhesion", "id": "GO:0007155" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "integrin-mediated signaling pathway", "id": "GO:0007229" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell migration", "id": "GO:0016477" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "pmid": "16365040", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "filopodium assembly", "id": "GO:0046847" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell adhesion mediated by integrin", "id": "GO:0033627" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "pmid": "29315582", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "myelination in peripheral nervous system", "id": "GO:0022011" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032290", "pmid": "29315582", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "peripheral nervous system myelin formation", "id": "GO:0032290" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "pmid": "21606200", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "trophoblast cell migration", "id": "GO:0061450" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell-matrix adhesion", "id": "GO:0007160" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "response to wounding", "id": "GO:0009611" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035878", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "nail development", "id": "GO:0035878" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "autophagy", "id": "GO:0006914" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "cell motility", "id": "GO:0048870" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043589", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "skin morphogenesis", "id": "GO:0043589" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031581", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "hemidesmosome assembly", "id": "GO:0031581" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "integrin-mediated signaling pathway", "id": "GO:0007229" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048333", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "name": "mesodermal cell differentiation", "id": "GO:0048333" } ], "total": 17, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8359687", "type": "PubMed", "id": "8359687" } ], "title": "Sequence of a cDNA encoding the beta 4 subunit of murine integrin.", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "authors": "Chang L.Y., Sacchi A., Rizzo M.G., Cimino L., Foote L.J., Kennel S.J.", "date": "1993" } ], "uniprot_ac": "A2A863", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A863", "type": "synonym", "resource": "RefSeq", "name": "AA407042; C230078O20; CD104" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A863", "type": "synonym", "resource": "RefSeq", "name": "Itgb4" }, { "url": "https://www.uniprot.org/uniprot/A2A863", "type": "recommended", "resource": "UniProtKB", "name": "Itgb4" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A863#A2A863-1", "isoform_ac": "A2A863-1", "locus": { "end_pos": 115977796, "strand": "-", "start_pos": 116008097, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000106461", "id": "ENSMUST00000106461", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000102069", "id": "ENSMUSP00000102069", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A863-1|ITB4_MOUSE Isoform 1 of Integrin beta-4 OS=Mus musculus OX=10090 GN=Itgb4 PE=1 SV=1 CANONICAL=A2A863-1", "length": 1818, "sequence": "MAGPCCSPWVKLLLLAAMLSASLPGDLANRCKKAQVKSCTECIRVDKSCAYCTDELFKERRCNTQAELLAAGCRGESILVMESSLEITENTQIDTSLHRSQVSPQGLQVRLRPGEERSFVFQVFEPLESPVDLYILMDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTENVEEFWNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDASGAYTQYKTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHKYFPVSSLGVLQEDSSNIVELLEEAFYRIRSNLDIRALDSPRGLRTEVTSDTLQKTETGSFHIKRGEVGTYNVHLRAVEDIDGTHVCQLAKEDQGGNIHLKPSFSDGLRMDASVICDVCPCELQKEVRSARCHFRGDFMCGHCVCNEGWSGKTCNCSTGSLSDTQPCLREGEDKPCSGHGECQCGRCVCYGEGRYEGHFCEYDNFQCPRTSGFLCNDRGRCSMGECVCEPGWTGRSCDCPLSNATCIDSNGGICNGRGYCECGRCHCNQQSLYTDTTCEINYSAIRLGLCEDLRSCVQCQAWGTGEKKGRACDDCPFKVKMVDELKKAEEVVEYCSFRDEDDDCTYSYNVEGDGSPGPNSTVLVHKKKDCPPGSFWWLIPLLIFLLLLLALLLLLCWKYCACCKACLGLLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDTVRWKITNNVQRPGFATHAASTSPTELVPYGLSLRLGRLCTENLMKPGTRECDQLRQEVEENLNEVYRQVSGAHKLQQTKFRQQPNTGKKQDHTIVDTVLLAPRSAKQMLLKLTEKQVEQGSFHELKVAPGYYTVTAEQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPVGTATLGRRLVNITIIKEQASGVVSFEQPEYSVSRGDQVARIPVIRHILDNGKSQVSYSTQDNTAHGHRDYVPVEGELLFHPGETWKELQVKLLELQEVDSLLRGRQVRRFQVQLSNPKFGARLGQPSTTTVILGEHDETDRSLINQTLSSPPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPPGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNEDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQGGEDYENFLMYSDDVLRSPASSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRSDEDGSVAGGVEGEGSGWIRGATPRPPGEHLVNGRMDFAYPGSANSLHRMTAANVAYGTHLSPHLSHRVLSTSSTLTRDYHSLTRTEHSHSGTLPRDYSTLTSLSSQDSRGAVGVPDTPTRLVFSALGPTSLKVSWQEPQCDRMLLGYSVEYQLLNGGEMHRLNIPNPGQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDILGYLVTCEMAQGGAPARTFRVDGDNPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQVGGPFPQLGSHSGLFQNPVQSEFSSVTSTHSTTTEPFLMDGLTLGTQRLEAGGSLTRHVTQEFVTRTLTASGSLSTHMDQQFFQT" } }, { "url": "https://www.uniprot.org/uniprot/A2A863#A2A863-2", "isoform_ac": "A2A863-2", "locus": { "end_pos": 115977796, "strand": "-", "start_pos": 116008097, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000068981", "id": "ENSMUST00000068981", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000070811", "id": "ENSMUSP00000070811", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A863-2|ITB4_MOUSE Isoform 2 of Integrin beta-4 OS=Mus musculus OX=10090 GN=Itgb4 PE=1 SV=1 CANONICAL=A2A863-1", "length": 1753, "sequence": "MAGPCCSPWVKLLLLAAMLSASLPGDLANRCKKAQVKSCTECIRVDKSCAYCTDELFKERRCNTQAELLAAGCRGESILVMESSLEITENTQIDTSLHRSQVSPQGLQVRLRPGEERSFVFQVFEPLESPVDLYILMDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTENVEEFWNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDASGAYTQYKTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHKYFPVSSLGVLQEDSSNIVELLEEAFYRIRSNLDIRALDSPRGLRTEVTSDTLQKTETGSFHIKRGEVGTYNVHLRAVEDIDGTHVCQLAKEDQGGNIHLKPSFSDGLRMDASVICDVCPCELQKEVRSARCHFRGDFMCGHCVCNEGWSGKTCNCSTGSLSDTQPCLREGEDKPCSGHGECQCGRCVCYGEGRYEGHFCEYDNFQCPRTSGFLCNDRGRCSMGECVCEPGWTGRSCDCPLSNATCIDSNGGICNGRGYCECGRCHCNQQSLYTDTTCEINYSAIRLGLCEDLRSCVQCQAWGTGEKKGRACDDCPFKVKMVDELKKAEEVVEYCSFRDEDDDCTYSYNVEGDGSPGPNSTVLVHKKKDCPPGSFWWLIPLLIFLLLLLALLLLLCWKYCACCKACLGLLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDTVRWKITNNVQRPGFATHAASTSPTELVPYGLSLRLGRLCTENLMKPGTRECDQLRQEVEENLNEVYRQVSGAHKLQQTKFRQQPNTGKKQDHTIVDTVLLAPRSAKQMLLKLTEKQVEQGSFHELKVAPGYYTVTAEQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPVGTATLGRRLVNITIIKEQASGVVSFEQPEYSVSRGDQVARIPVIRHILDNGKSQVSYSTQDNTAHGHRDYVPVEGELLFHPGETWKELQVKLLELQEVDSLLRGRQVRRFQVQLSNPKFGARLGQPSTTTVILGEHDETDRSLINQTLSSPPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPPGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNEDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQGGEDYENFLMYSDDVLRSPASSQRPSVSDDTEHLVNGRMDFAYPGSANSLHRMTAANVAYGTHLSPHLSHRVLSTSSTLTRDYHSLTRTEHSHSGTLPRDYSTLTSLSSQDSRGAVGVPDTPTRLVFSALGPTSLKVSWQEPQCDRMLLGYSVEYQLLNGGEMHRLNIPNPGQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDILGYLVTCEMAQGGAPARTFRVDGDNPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQVGGPFPQLGSHSGLFQNPVQSEFSSVTSTHSTTTEPFLMDGLTLGTQRLEAGGSLTRHVTQEFVTRTLTASGSLSTHMDQQFFQT" } }, { "url": "https://www.uniprot.org/uniprot/A2A863#A2A863-3", "isoform_ac": "A2A863-3", "locus": { "end_pos": 115977796, "strand": "-", "start_pos": 116008097, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000106460", "id": "ENSMUST00000106460", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000102068", "id": "ENSMUSP00000102068", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A863-3|ITB4_MOUSE Isoform 3 of Integrin beta-4 OS=Mus musculus OX=10090 GN=Itgb4 PE=1 SV=1 CANONICAL=A2A863-1", "length": 1806, "sequence": "MAGPCCSPWVKLLLLAAMLSASLPGDLANRCKKAQVKSCTECIRVDKSCAYCTDELFKERRCNTQAELLAAGCRGESILVMESSLEITENTQIDTSLHRSQVSPQGLQVRLRPGEERSFVFQVFEPLESPVDLYILMDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTENVEEFWNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDASGAYTQYKTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHKYFPVSSLGVLQEDSSNIVELLEEAFYRIRSNLDIRALDSPRGLRTEVTSDTLQKTETGSFHIKRGEVGTYNVHLRAVEDIDGTHVCQLAKEDQGGNIHLKPSFSDGLRMDASVICDVCPCELQKEVRSARCHFRGDFMCGHCVCNEGWSGKTCNCSTGSLSDTQPCLREGEDKPCSGHGECQCGRCVCYGEGRYEGHFCEYDNFQCPRTSGFLCNDRGRCSMGECVCEPGWTGRSCDCPLSNATCIDSNGGICNGRGYCECGRCHCNQQSLYTDTTCEINYSAIRLGLCEDLRSCVQCQAWGTGEKKGRACDDCPFKVKMVDELKKAEEVVEYCSFRDEDDDCTYSYNVEGDGSPGPNSTVLVHKKKDCPPGSFWWLIPLLIFLLLLLALLLLLCWKYCACCKACLGLLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDTVRWKITNNVQRPGFATHAASTSPTELVPYGLSLRLGRLCTENLMKPGTRECDQLRQEVEENLNEVYRQVSGAHKLQQTKFRQQPNTGKKQDHTIVDTVLLAPRSAKQMLLKLTEKQVEQGSFHELKVAPGYYTVTAEQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPVGTATLGRRLVNITIIKEQASGVVSFEQPEYSVSRGDQVARIPVIRHILDNGKSQVSYSTQDNTAHGHRDYVPVEGELLFHPGETWKELQVKLLELQEVDSLLRGRQVRRFQVQLSNPKFGARLGQPSTTTVILGEHDETDRSLINQTLSSPPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPPGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNEDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQGGEDYENFLMYSDDVLRSPASSQRPSVSDDTEHLVNGRMDFAYPGSANSLHRMTAANVAYGTHLSPHLSHRVLSTSSTLTRDYHSLTRTEHSHSGTLPRDYSTLTSLSSQGLPPIWEDGRSRLPLSWTLGSLSRAHMKGVPASRGSPDSIILAGQSAAPSWGTDSRGAVGVPDTPTRLVFSALGPTSLKVSWQEPQCDRMLLGYSVEYQLLNGGEMHRLNIPNPGQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDILGYLVTCEMAQGGAPARTFRVDGDNPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQVGGPFPQLGSHSGLFQNPVQSEFSSVTSTHSTTTEPFLMDGLTLGTQRLEAGGSLTRHVTQEFVTRTLTASGSLSTHMDQQFFQT" } }, { "url": "https://www.uniprot.org/uniprot/A2A863#A2A864-1", "isoform_ac": "A2A864-1", "locus": { "end_pos": 115977796, "strand": "-", "start_pos": 116008097, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000021107", "id": "ENSMUST00000021107", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000021107", "id": "ENSMUSP00000021107", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2A864-1|A2A864_MOUSE Computationally mapped isoform of Integrin beta OS=Mus musculus OX=10090 GN=Itgb4 PE=1 SV=1 CANONICAL=A2A863-1", "length": 1802, "sequence": "MAGPCCSPWVKLLLLAAMLSASLPGDLANRCKKAQVKSCTECIRVDKSCAYCTDELFKERRCNTQAELLAAGCRGESILVMESSLEITENTQIDTSLHRSQVSPQGLQVRLRPGEERSFVFQVFEPLESPVDLYILMDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTENVEEFWNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDASGAYTQYKTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHKYFPVSSLGVLQEDSSNIVELLEEAFYRIRSNLDIRALDSPRGLRTEVTSDTLQKTETGSFHIKRGEVGTYNVHLRAVEDIDGTHVCQLAKEDQGGNIHLKPSFSDGLRMDASVICDVCPCELQKEVRSARCHFRGDFMCGHCVCNEGWSGKTCNCSTGSLSDTQPCLREGEDKPCSGHGECQCGRCVCYGEGRYEGHFCEYDNFQCPRTSGFLCNDRGRCSMGECVCEPGWTGRSCDCPLSNATCIDSNGGICNGRGYCECGRCHCNQQSLYTDTTCEINYSAIRLGLCEDLRSCVQCQAWGTGEKKGRACDDCPFKVKMVDELKKEEVVEYCSFRDEDDDCTYSYNVEGDGSPGPNSTVLVHKKKDCPPGSFWWLIPLLIFLLLLLALLLLLCWKYCACCKACLGLLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDTVRWKITNNVQRPGFATHAASTSPTELVPYGLSLRLGRLCTENLMKPGTRECDQLRQEVEENLNEVYRQVSGAHKLQQTKFRQQPNTGKKQDHTIVDTVLLAPRSAKQMLLKLTEKQVEQGSFHELKVAPGYYTVTAEQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPVGTATLGRRLVNITIIKEQASGVVSFEQPEYSVSRGDQVARIPVIRHILDNGKSQVSYSTQDNTAHGHRDYVPVEGELLFHPGETWKELQVKLLELQEVDSLLRGRQVRRFQVQLSNPKFGARLGQPSTTTVILDETDRSLINQTLSSPPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPPGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNEDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQGGEDYENFLMYSDDVLRSPASSQRPSVSDDTEHLVNGRMDFAYPGSANSLHRMTAANVAYGTHLSPHLSHRVLSTSSTLTRDYHSLTRTEHSHSGTLPRDYSTLTSLSSQGLPPIWEDGRSRLPLSWTLGSLSRAHMKGVPASRGSPDSIILAGQSAAPSWGTDSRGAVGVPDTPTRLVFSALGPTSLKVSWQEPQCDRMLLGYSVEYQLLNGGEMHRLNIPNPGQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDILGYLVTCEMAQGGAPARTFRVDGDNPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQVGGPFPQLGSHSGLFQNPVQSEFSSVTSTHSTTTEPFLMDGLTLGTQRLEAGGSLTRHVTQEFVTRTLTASGSLSTHMDQQFFQT" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:192897", "resource": "KEGG Pathway", "id": "mmu:192897", "name": "" }, { "reaction_list": [ "R-MMU-1474266", "R-MMU-2213192", "R-MMU-2213200", "R-MMU-2213201", "R-MMU-2213205", "R-MMU-2213207", "R-MMU-2213208", "R-MMU-2213210", "R-MMU-2299620" ], "resource": "Reactome", "description": "Assembly of collagen fibrils and other multimeric structures", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-2022090", "id": "R-MMU-2022090", "name": "Assembly of collagen fibrils and other multimeric structures" }, { "reaction_list": [ "R-MMU-216048", "R-MMU-216058", "R-MMU-2426450", "R-MMU-349626", "R-MMU-3787997", "R-MMU-3907292", "R-MMU-4084505", "R-MMU-4084507" ], "resource": "Reactome", "description": "Laminin interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3000157", "id": "R-MMU-3000157", "name": "Laminin interactions" }, { "reaction_list": [ "R-MMU-2684507", "R-MMU-2731074", "R-MMU-2731078", "R-MMU-2731122", "R-MMU-2731141", "R-MMU-2750187" ], "resource": "Reactome", "description": "Syndecan interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3000170", "id": "R-MMU-3000170", "name": "Syndecan interactions" }, { "reaction_list": [ "R-MMU-432909", "R-MMU-432952", "R-MMU-432956", "R-MMU-446077", "R-MMU-446083", "R-MMU-446089" ], "resource": "Reactome", "description": "Type I hemidesmosome assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-446107", "id": "R-MMU-446107", "name": "Type I hemidesmosome assembly" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2A863#function", "annotation": "Integrin alpha-6/beta-4 is a receptor for laminin. It plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling. ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863#function", "id": "A2A863", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005608.2", "annotation": "Study reports that alveolar progenitor cells in the mouse mammary gland express alpha6 beta4 integrin based on analysis of single cell RNA-Seq data. Subsequent experiments using a mouse mammary epithelial cell line confirmed this finding and revealed that beta4 is essential for maintaining progenitor function as assessed by serial passage mammosphere assays.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005608.2", "id": "NP_001005608.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "P16144-1", "protein_name": "Integrin beta", "sequence": { "length": 1822, "sequence": "MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRRCNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFELEVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYRTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLEEAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDGTHVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCVCSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDNFQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGRCHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDELKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLLLLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLARLCTENLLKPDTRECAQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLKLTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGGKSQVSYRTQDGTAQGNRDYIPVEGELLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEFVSRTLTTSGTLSTHMDQQFFQT" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/179", "id": "179", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "ITGB4", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q64632-1", "protein_name": "Integrin beta-4", "sequence": { "length": 1807, "sequence": "MAGLCSSPWVKLLLAVVLSAGLPGNMANRCKKAQVKSCTECIRVDKSCAYCTDELFKERRCNTQADVLAAGCRGESVLVMESSLEITENIQIDTSLHRSQVSPQGLQVRLRPGEERNFVFKVFEPLESPVDLYILMDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTENVEEFWDKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDATGAYTQYKTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHKYFPVSSLGVLQEDSSNIVELLEEAFYRIRSNLDIRALDSPRGLRTEVTSDTLQKTETGSFHIKRGEVGTYNVHLRAVEDIDGTHVCQLAKEDQRGNIHLKPSFSDGLRMDASVICDMCACELQKEVQSARCHYRGDFMCGHCVCNEGWSGKTCNCSTGSLSDTQPCLREGEDKPCSGHGECQCGRCVCYGEGRYEGHFCEYDNFQCPRTSGFLCNDRGRCSMGECVCEPGWTGRSCDCPLSNATCIDSNGGICNGLGFCECGRCHCNQRSSLYTDTTCEINYSAIRLGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDELKKAEEVVEYCSFRDEDDDCTYSYTVEGDGSPGPNSTVLVHKKKDCLPAPSWWLIPLLIFLLLLLVLLLLLCWKYCACCKACLGLLPCCNQGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDTVRWKITNNVQRPGFATHAASISPTELVPYGLSLRLGRLCTENLMKPGTRECDQLRQEVEENLNEVYRQVNGVHKLQQTKFRQQPNAGKKQDHTIVDTVLLAPRSAKQSLLKLTEKQVEQGSFHELKVAPGYYTLTAEQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPVGTATLGRRLVNITIIKEQASGIVSFEQPEYSVSRGDQVARIPVIRHILDNGKSQVSYSTQDNTAHGHRDYVPVEGELLFYPGETWKELQVKLLELQEVDSLLRGRQVRRFQVQLSNPKFGARLGQPNTATVIIGEQDETDRSLINEISASPPLPRGDLGAPQNPNAKAAGSRKIHFNWLPPPGKPMGYRVKYWVQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAHGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNEDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQGGEDYENFLMYSDDVLRSPASSQRPSVSDDTEHLVNGRMDFAYPGSANSLHRMTAANVAYGTHLSPHQTHRMLSTSSTLTRDYHSLTRTDHSQSGTLPRDYSTLTSLSSQGLPPIWEDGRSRLPLSWTLGSWSRAQMKGVPASRGSPDSIILAGQSAAPSWGTDSRGAMGVPDTPTRLVFSALGPTSLKVSWQEPQCDRALLGYSVEYQLLNGGEMHRLNIPNPGQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDILGYLVTCEMAQGGGPARTFRVDGDNPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSHSGLFQNPLQSEYSTVTSTHSTTTTEPFLIDGLTLGTQRLEAGGSLTRHVTQEFVSRTLTTSGSLSTHMDQQFFQT" 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{ "url": "https://monarchinitiative.org/disease/MONDO:0009183", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa JUNCTIONALIS with pyloric atresia", "id": "MONDO:0009183" }, { "url": "https://www.omim.org/entry/226730", "resource": "MIM", "description": "Epidermolysis bullosa letalis, with pyloric atresia", "name": "Epidermolysis bullosa letalis, with pyloric atresia", "id": "MIM:226730" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0060733", "resource": "Disease Ontology", "description": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.", "name": "junctional epidermolysis bullosa with pyloric atresia", "id": "DOID:0060733" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060733#disease-associations", "id": "0060733", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0060738", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "generalized atrophic benign epidermolysis bullosa", "id": "DOID:0060738" }, { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "junctional epidermolysis bullosa generalisata mitis", "id": "DOID:0060738" }, { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "generalized junctional epidermolysis bullosa, non-Herlitz type", "id": "DOID:0060738" }, { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "junctional epidermolysis bullosa, Disentis type", "id": "DOID:0060738" }, { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "JEN-nH", "id": "DOID:0060738" }, { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "GABEB", "id": "DOID:0060738" }, { "url": "http://disease-ontology.org/term/DOID:0060738", "resource": "Disease Ontology", "description": "", "name": "JEB-nH gen", "id": "DOID:0060738" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.", "name": "junctional epidermolysis bullosa, non-Herlitz type", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa Junctionalis, Disentis type", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa Junctionalis, severe Nonlethal", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa Junctionalis, non-Herlitz type", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa, generalized atrophic benign", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa, junctional, Localisata variant", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "JEB-I", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa, junctional, non-Herlitz type", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa Junctionalis, progressive", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "JEN-nH", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "JEB-nH", "id": "MONDO:0009180" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009180", "resource": "MONDO", "description": "", "name": "junctional epidermolysis bullosa inversa", "id": "MONDO:0009180" }, { "url": "https://www.omim.org/entry/226650", "resource": "MIM", "description": "Generalized atrophic benign epidermolysis bullosa", "name": "Generalized atrophic benign epidermolysis bullosa", "id": "MIM:226650" } ], 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The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.", "name": "junctional epidermolysis bullosa non-Herlitz type", "id": "DOID:0060738" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060738#disease-associations", "id": "0060738", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0080510", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0080510", "resource": "Disease Ontology", "description": "", "name": "epidermolysis bullosa simplex Weber-Cockayne type", "id": "DOID:0080510" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.", "name": "localized epidermolysis bullosa simplex", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa simplex, Weber-Cockayne type", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa simplex, localized", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "Weber-Cockayne syndrome", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa of hands and feet", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "EBS-loc", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "EBS, acral form", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "epidermolysis bullosa simplex of palms and soles", "id": "MONDO:0007551" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007551", "resource": "MONDO", "description": "", "name": "Weber-Cockayne type epidermolysis bullosa simplex", "id": "MONDO:0007551" }, { "url": "https://www.omim.org/entry/131800", "resource": "MIM", "description": "Epidermolysis bullosa simplex, Weber-Cockayne type", "name": "Epidermolysis bullosa simplex, Weber-Cockayne type", "id": "MIM:131800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0080510", "resource": "Disease Ontology", "description": "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet.", "name": "epidermolysis bullosa simplex localized type", "id": "DOID:0080510" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0080510#disease-associations", "id": "0080510", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [ { "residue": "Ser", "kinase_gene_name": "Atxn7l3b", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "start_pos": 1071, "end_pos": 1071, "kinase_uniprot_canonical_ac": "Q3UD01-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1071, "end_pos": 1071, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1121, "end_pos": 1121, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1451, "end_pos": 1451, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1454, "end_pos": 1454, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Atxn7l3b", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "start_pos": 1470, "end_pos": 1470, "kinase_uniprot_canonical_ac": "Q3UD01-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1470, "end_pos": 1470, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1483, "end_pos": 1483, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1490, "end_pos": 1490, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1526, "end_pos": 1526, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 1787, "end_pos": 1787, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "id": "A2A863", "database": "UniProtKB" } ], "start_pos": 773, "end_pos": 773, "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 201650.0, "chemical_mass": 201650.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2A863", "name": "Itgb4", "locus": { "end_pos": 116008412, "strand": "+", "start_pos": 115974709, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000020758", "id": "ENSMUSG00000020758", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A863", "type": "synonym", "resource": "RefSeq", "name": "Integrin beta-4" }, { "url": "https://www.uniprot.org/uniprot/A2A863#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Integrin beta-4" }, { "url": "https://www.uniprot.org/uniprot/A2A863#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Integrin beta" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A863", "type": "synonym", "resource": "RefSeq", "name": "integrin beta-4 isoform 1 precursor" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A863", "type": "synonym", "resource": "RefSeq", "name": "integrin beta-4 isoform X4" } ] }