{ "uniprot_canonical_ac": "A2ACT7-1", "uniprot_ac": "A2ACT7", "uniprot_id": "A2ACT7_MOUSE", "mass": { "chemical_mass": 63475.0, "monoisotopic_mass": 63475.0 }, "refseq": { "ac": "NP_034066", "name": "collagen alpha-3(IX) chain isoform 2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066" }, "gene_names": [ { "name": "Col9a3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2ACT7", "id": "A2ACT7" }, { "name": "AV006866", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066", "id": "NP_034066" }, { "name": "Col9a3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066", "id": "NP_034066" } ], "protein_names": [ { "name": "Collagen, type IX, alpha 3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2ACT7#names_and_taxonomy", "id": "A2ACT7" }, { "name": "collagen alpha-3(IX) chain isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066", "id": "NP_034066" }, { "name": "procollagen, type IX, alpha 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066", "id": "NP_034066" } ], "function": [ { "annotation": "SOX9-COL9A3-dependent regulation of choroid plexus epithelial polarity governs blood-cerebrospinal fluid barrier integrity.", "evidence": [ { "database": "RefSeq", "id": "NP_034066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066" }, { "database": "PubMed", "id": "33526661", "url": "https://glygen.org/publication/PubMed/33526661" } ] } ], "disease": [ { "disease_id": "DOID:0070304", "recommended_name": { "id": "DOID:0070304", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070304", "name": "multiple epiphyseal dysplasia 3", "description": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13." }, "synonyms": [ { "id": "DOID:0070304", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070304", "name": "EDM3", "description": "" }, { "id": "DOID:0070304", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070304", "name": "multiple epiphyseal dysplasia 3 with or without myopathy", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "epiphyseal dysplasia, multiple, 3", "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "COL9A3 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "epiphyseal dysplasia, multiple, 3", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "epiphyseal dysplasia multiple 3", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "epiphyseal dysplasia, multiple, 3; EDM3", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "epiphyseal dysplasia, multiple, type 3", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "epiphyseal dysplasia, multiple, 3, with myopathy", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "EDM3", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "multiple epiphyseal dysplasia 3", "description": "" }, { "id": "MONDO:0010964", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010964", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3", "description": "" }, { "id": "MIM:600969", "resource": "MIM", "url": "https://www.omim.org/entry/600969", "name": "Multiple epiphyseal dysplasia 3", "description": "Multiple epiphyseal dysplasia 3" } ], "evidence": [ { "id": "0070304", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070304" } ] }, { "disease_id": "DOID:2256", "recommended_name": { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone." }, "synonyms": [ { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "Cartilage Development disorder", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "Congenital anomaly of cartilage", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "Osteochondrodysplasia syndrome", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "chondrodystrophy", "description": "" }, { "id": "DOID:2256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2256", "name": "skeletal dysplasia", "description": "" } ], "evidence": [ { "id": "2256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Col9a3", "url": "https://www.uniprot.org/uniprot/A2ACT7", "locus": { "chromosome": "2", "start_pos": 180597790, "end_pos": 180622189, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000027570", "url": "https://www.ensembl.org/id/ENSMUSG00000027570" } ] } } ], "crossref": [ { "id": "ENSMUSG00000027570", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000027570", "database": "Bgee" }, { "id": "12841", "url": "https://www.ncbi.nlm.nih.gov/gene/12841", "database": "GeneID" }, { "id": "IPR008160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008160", "database": "InterPro" }, { "id": "894686", "url": "http://www.informatics.jax.org/marker/MGI:894686", "database": "MGI" }, { "id": "QDGIDGE", "url": "https://omabrowser.org/oma/group/QDGIDGE/", "database": "OMA" }, { "id": "1029126at2759", "url": "http://www.orthodb.org/?query=1029126at2759", "database": "OrthoDB" }, { "id": "PF01391", "url": "http://pfam.xfam.org/family/PF01391", "database": "Pfam" }, { "id": "R-MMU-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1650814", "database": "Reactome" }, { "id": "R-MMU-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-186797", "database": "Reactome" }, { "id": "R-MMU-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-2022090", "database": "Reactome" }, { "id": "R-MMU-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-216083", "database": "Reactome" }, { "id": "R-MMU-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3000178", "database": "Reactome" }, { "id": "R-MMU-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-419037", "database": "Reactome" }, { "id": "R-MMU-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8948216", "database": "Reactome" }, { "id": "NP_034066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066", "database": "RefSeq" }, { "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7", "database": "UniProtKB" }, { "id": "A2ACT7-1", "url": "https://www.uniprot.org/uniprot/A2ACT7-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MTGAPALALLLLGQLLTATSAQKVGPRGPPGPQGPPGKPGKDGIDGEAGPPGLPGLPGPKGTSGKPGKPGEAGLPGLPGVDGLTGRDGPAGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGLPGGIGLRGPPGPSGLPGLPGLPGPPGPPGNPGVLPEGATDLQCPAICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGSPGPPGPPGIPGTVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGTPGAPGKVGDRGERGPEGFRGPKGDLGRPGPKGIPGMAGPGGEPGMPGKDGKDGVPGLDGEKGEAGRNGGQGEKGPNGLPGLPGRAGSKGEKGEPGRTGELGEAGPSGEPGIPGDVGVPGERGEAGHRGSVGALGPQGPPGAPGIRGFQGQKGSTGDPGLPGPQGLRGDVGDRGPGGATGPKGDQGIAGSDGLPGDKGELGPNGPVGQKGESGSRGELGPKGIQGPNGTSGVQGVPGPPGPLGLQGVQGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGSQGDRGDKGATGAGLDGPAGDQGYQGPQGVPGISKDGRDGAHGEPGLPGDPGLPGAAGAQGTPGICDTSACQGAVLGGGGEKSGPRSS", "length": 680, "header": "tr|A2ACT7-1|A2ACT7_MOUSE Isoform 1 of Collagen, type IX, alpha 3 OS=Mus musculus OX=10090 GN=Col9a3 PE=1 SV=1 CANONICAL=A2ACT7-1" }, "isoforms": [ { "isoform_ac": "A2ACT7-1", "url": "https://www.uniprot.org/uniprot/A2ACT7#A2ACT7-1", "sequence": { "sequence": "MTGAPALALLLLGQLLTATSAQKVGPRGPPGPQGPPGKPGKDGIDGEAGPPGLPGLPGPKGTSGKPGKPGEAGLPGLPGVDGLTGRDGPAGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGLPGGIGLRGPPGPSGLPGLPGLPGPPGPPGNPGVLPEGATDLQCPAICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGSPGPPGPPGIPGTVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGTPGAPGKVGDRGERGPEGFRGPKGDLGRPGPKGIPGMAGPGGEPGMPGKDGKDGVPGLDGEKGEAGRNGGQGEKGPNGLPGLPGRAGSKGEKGEPGRTGELGEAGPSGEPGIPGDVGVPGERGEAGHRGSVGALGPQGPPGAPGIRGFQGQKGSTGDPGLPGPQGLRGDVGDRGPGGATGPKGDQGIAGSDGLPGDKGELGPNGPVGQKGESGSRGELGPKGIQGPNGTSGVQGVPGPPGPLGLQGVQGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGSQGDRGDKGATGAGLDGPAGDQGYQGPQGVPGISKDGRDGAHGEPGLPGDPGLPGAAGAQGTPGICDTSACQGAVLGGGGEKSGPRSS", "length": 680, "header": "tr|A2ACT7-1|A2ACT7_MOUSE Isoform 1 of Collagen, type IX, alpha 3 OS=Mus musculus OX=10090 GN=Col9a3 PE=1 SV=1 CANONICAL=A2ACT7-1" }, "locus": { "chromosome": "2", "start_pos": 180263210, "end_pos": 180240053, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000103059", "url": "https://www.ensembl.org/id/ENSMUST00000103059" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000099348", "url": "https://www.ensembl.org/id/ENSMUSP00000099348" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "SOX9-COL9A3-dependent regulation of choroid plexus epithelial polarity governs blood-cerebrospinal fluid barrier integrity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021", "authors": "Vong KI, Ma TC, Li B, Leung TCN, Nong W, Ngai SM, Hui JHL, Jiang L, Kwan KM", "evidence": [ { "database": "RefSeq", "id": "NP_034066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066" } ], "reference": [ { "type": "PubMed", "id": "33526661", "url": "https://glygen.org/publication/PubMed/33526661" } ] } ], "pathway": [ { "id": "R-MMU-1650814", "name": "Collagen biosynthesis and modifying enzymes", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1650814", "resource": "Reactome", "description": "Collagen biosynthesis and modifying enzymes" }, { "id": "R-MMU-186797", "name": "Signaling by PDGF", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-186797", "resource": "Reactome", "description": "Signaling by PDGF" }, { "id": "R-MMU-2022090", "name": "Assembly of collagen fibrils and other multimeric structures", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-2022090", "resource": "Reactome", "description": "Assembly of collagen fibrils and other multimeric structures" }, { "id": "R-MMU-216083", "name": "Integrin cell surface interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-216083", "resource": "Reactome", "description": "Integrin cell surface interactions" }, { "id": "R-MMU-3000178", "name": "ECM proteoglycans", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3000178", "resource": "Reactome", "description": "ECM proteoglycans" }, { "id": "R-MMU-419037", "name": "NCAM1 interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-419037", "resource": "Reactome", "description": "NCAM1 interactions" }, { "id": "R-MMU-8948216", "name": "Collagen chain trimerization", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8948216", "resource": "Reactome", "description": "Collagen chain trimerization" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZX71-1", "protein_name": "Collagen type IX alpha 3 chain", "gene_name": "Col9a3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTGAPALALLLLGQLLTATSAQKVGPRGPPGPQGPPGKPGKDGIDGEAGPPGLPGPPGPKGTSGKPGKPGEAGLPGLPGVDGLTGRDGPAGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGLPGGIGLRGPPGPSGLPGLPGPPGPPGPPGNPGVLPEGATDLQCPAICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGNPGPPGPPGIPGTVGLQGPRGLQGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGDRGPEGFRGPKGDLGRPGPKGIPGVAGPGGEPGMPGKDGKDGVPGLDGEKGEAGRTGAPGEKGPNGLPGLPGRAGSKGEKGEVGRTGELGEAGPSGEPGIPGDVGVPGERGEAGHRGSVGALGPQGPPGAPGIRGFQGQKGSIGDPGLPGPQGLRGDVGDRGPGGATGPKGDQGIAGSDGLPGDKGELGPNGPVGQKGESGSRGELGPKGIQGPNGTSGVQGVPGPPGPLGFQGVQGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGSQGDRGDKGAIGVGLDGPAGDQGYRGPQGVPGISKDGRDGAHGEPGLPGDPGLPGAAGAQGTPGICDTSACQGAVLGGGGEKSGPRSS", "length": 680 }, "evidence": [ { "id": "20438", "url": "http://www.informatics.jax.org/homology/20438", "database": "MGI" }, { "id": "A2ACT7", "url": "https://omabrowser.org/oma/group/A2ACT7/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q14050-1", "protein_name": "Collagen alpha-3(IX) chain", "gene_name": "COL9A3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGVGEKSGSRSS", "length": 684 }, "evidence": [ { "id": "20438", "url": "http://www.informatics.jax.org/homology/20438", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "21873635" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "21873635" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "21873635" }, { "name": "collagen type IX trimer", "id": "GO:0005594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005594", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "22159717" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "21873635" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "11145610" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "11145610" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "A2ACT7", "url": "https://www.uniprot.org/uniprot/A2ACT7" } ], "pmid": "21873635" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 479, "end_pos": 481, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ] }