{ "uniprot_canonical_ac": "A0A087WS16-1", "uniprot_ac": "A0A087WS16", "uniprot_id": "A0A087WS16_MOUSE", "mass": { "chemical_mass": 288693.0, "monoisotopic_mass": 288693.0 }, "refseq": {}, "gene_names": [ { "name": "Col6a3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16", "id": "A0A087WS16" } ], "protein_names": [ { "name": "von Willebrand factor A domain-containing protein 1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16/entry#names_and_taxonomy", "id": "A0A087WS16" } ], "function": [ { "annotation": "Collagen VI acts as a cell-binding protein.", "evidence": [ { "database": "UniProtKB", "id": "E9PWQ3", "url": "https://www.uniprot.org/uniprotkb/E9PWQ3#function" }, { "database": "UniProtKB", "id": "ARBA00043858", "url": "https://www.uniprot.org/uniprotkb/ARBA00043858#function" } ] }, { "annotation": "Promotes matrix assembly. Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions.", "evidence": [ { "database": "UniProtKB", "id": "E9PWQ3", "url": "https://www.uniprot.org/uniprotkb/E9PWQ3#function" }, { "database": "UniProtKB", "id": "ARBA00046169", "url": "https://www.uniprot.org/uniprotkb/ARBA00046169#function" }, { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16#function" }, { "database": "UniProtKB", "id": "J3QQ16", "url": "https://www.uniprot.org/uniprotkb/J3QQ16#function" } ] } ], "disease": [ { "disease_id": "DOID:0050557", "recommended_name": { "id": "DOID:0050557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050557", "name": "congenital muscular dystrophy", "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." }, "synonyms": [ { "id": "MONDO:0009682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009682", "name": "muscular dystrophy, congenital, with rapid progression", "description": "" }, { "id": "MONDO:0009682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009682", "name": "muscular dystrophy, congenital, with rapid progression", "description": "" }, { "id": "MIM:254100", "resource": "MIM", "url": "https://www.omim.org/entry/254100", "name": "Muscular dystrophy, congenital, with rapid progression", "description": "Muscular dystrophy, congenital, with rapid progression" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050557" } ] }, { "disease_id": "DOID:0050558", "recommended_name": { "id": "DOID:0050558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050558", "name": "Ullrich congenital muscular dystrophy", "description": "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes." }, "synonyms": [ { "id": "DOID:0050558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050558", "name": "ULLRICH DISEASE", "description": "" }, { "id": "DOID:0050558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050558", "name": "Ullrich scleroatonic muscular dystrophy", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050558" } ] }, { "disease_id": "DOID:0050663", "recommended_name": { "id": "DOID:0050663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050663", "name": "Bethlem myopathy", "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene." }, "synonyms": [ { "id": "DOID:0050663", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050663", "name": "benign congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0024530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024530", "name": "Bethlem myopathy 1A", "description": "" }, { "id": "MONDO:0024530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024530", "name": "Bethlem myopathy 1", "description": "" }, { "id": "MONDO:0024530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024530", "name": "BTHLM1", "description": "" }, { "id": "MONDO:0024530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024530", "name": "Bethlem myopathy", "description": "" }, { "id": "MONDO:0024530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024530", "name": "muscular dystrophy, benign congenital", "description": "" }, { "id": "MONDO:0024530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024530", "name": "myopathy, benign congenital, with contractures", "description": "" }, { "id": "MIM:158810", "resource": "MIM", "url": "https://www.omim.org/entry/158810", "name": "Bethlem myopathy 1A", "description": "Bethlem myopathy 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050663" } ] }, { "disease_id": "DOID:0060943", "recommended_name": { "id": "DOID:0060943", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060943", "name": "Ullrich congenital muscular dystrophy 1C", "description": "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37." }, "synonyms": [ { "id": "MONDO:0958236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0958236", "name": "Ullrich congenital muscular dystrophy 1C", "description": "" }, { "id": "MIM:620728", "resource": "MIM", "url": "https://www.omim.org/entry/620728", "name": "Ullrich congenital muscular dystrophy 1C", "description": "Ullrich congenital muscular dystrophy 1C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060943" } ] }, { "disease_id": "DOID:0090050", "recommended_name": { "id": "DOID:0090050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090050", "name": "dystonia 27", "description": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37." }, "synonyms": [ { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonia 27", "description": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "COL6A3 dystonic disorder", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonia 27", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonia type 27", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "dystonic disorder caused by mutation in COL6A3", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "DYT27", "description": "" }, { "id": "MONDO:0014627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014627", "name": "primary dystonia, DYT27 type", "description": "" }, { "id": "MIM:616411", "resource": "MIM", "url": "https://www.omim.org/entry/616411", "name": "Dystonia 27", "description": "Dystonia 27" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090050" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "OPTN-related open angle glaucoma", "description": "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene." }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "OPTN-related open angle glaucoma", "description": "" }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "unlinked_id_list": [], "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:13207", "recommended_name": { "id": "DOID:13207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13207", "name": "proliferative diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:13207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13207", "name": "PDR", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ] }, { "disease_id": "DOID:13223", "recommended_name": { "id": "DOID:13223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus." }, "synonyms": [ { "id": "DOID:13223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13223", "name": "Plexiform leiomyoma", "description": "" }, { "id": "DOID:13223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13223", "name": "UTERUS FIBROMA", "description": "" }, { "id": "DOID:13223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13223", "name": "leiomyoma of Corpus Uteri", "description": "" }, { "id": "DOID:13223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13223", "name": "uterine leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus leiomyoma", "description": "A benign smooth muscle neoplasm arising from the body of the uterus. 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"https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of the uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "fibroid of uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the body of uterus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the corpus uteri", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of the uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of uterine body", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma of uterine corpus", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "plexiform leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine body fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine body leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine corpus leiomyomata", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine fibroid", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "UL", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "leiomyoma, uterine", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterine leiomyoma", "description": "" }, { "id": "MONDO:0007886", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007886", "name": "uterus fibroma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ] }, { "disease_id": "DOID:14004", "recommended_name": { "id": "DOID:14004", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta." }, "synonyms": [ { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, familial thoracic 7", "description": "" }, { "id": "MONDO:0013418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013418", "name": "aortic aneurysm, 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"url": "https://monarchinitiative.org/disease/MONDO:0007568", "name": "aortic aneurysm/aortic dissection and patent ductus arteriosus", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "ACTA2 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "aortic aneurysm, familial thoracic type 6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "AAT6", "description": "" }, { "id": "MONDO:0012730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012730", "name": "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "aortic aneurysm, familial thoracic 2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "AAT2", "description": "" }, { "id": "MONDO:0011770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011770", "name": "FAA2", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic 1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "AAT1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "Erdheim cystic medial necrosis of aorta", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "FAA1", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aneurysm, thoracic aortic", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "annuloaortic ectasia", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic aneurysm, familial thoracic", "description": "" }, { "id": "MONDO:0024559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024559", "name": "aortic dissection, familial", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "PRKG1 familial thoracic aortic aneurysm and aortic dissection", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "aortic aneurysm, familial thoracic type 8", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1", "description": "" }, { "id": "MONDO:0014187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014187", "name": "AAT8", "description": "" }, { "id": "MIM:613780", "resource": "MIM", "url": "https://www.omim.org/entry/613780", "name": "Aortic aneurysm, familial thoracic 7", "description": "Aortic aneurysm, familial thoracic 7" }, { "id": "MIM:132900", "resource": "MIM", "url": "https://www.omim.org/entry/132900", "name": "Aortic aneurysm, familial thoracic 4", "description": "Aortic aneurysm, familial thoracic 4" }, { "id": "MIM:611788", "resource": "MIM", "url": "https://www.omim.org/entry/611788", "name": "Aortic aneurysm, familial thoracic 6", "description": "Aortic aneurysm, familial thoracic 6" }, { "id": "MIM:615436", "resource": "MIM", "url": "https://www.omim.org/entry/615436", "name": "Aortic aneurysm, familial thoracic 8", "description": "Aortic aneurysm, familial thoracic 8" } ], "unlinked_id_list": [], "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ] }, { "disease_id": "DOID:2033", "recommended_name": { "id": "DOID:2033", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2033", "name": "communication disorder", "description": "A specific developmental disorder that involves specific developmental disorders of speech and language." }, "synonyms": [], "unlinked_id_list": [ "DOID:4090", "DOID:92" ], "evidence": [ { "id": "2033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2033" } ] }, { "disease_id": "DOID:219", "recommended_name": { "id": "DOID:219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": 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"http://disease-ontology.org/term/DOID:784", "name": "chronic renal disease", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic renal failure syndrome", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "renal failure - chronic", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ] }, { "disease_id": "DOID:8577", "recommended_name": { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." }, "synonyms": [ { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "Left-sided ulcerative colitis", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "disease_id": "DOID:9884", "recommended_name": { "id": "DOID:9884", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration." }, "synonyms": [ { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive Pectorodorsal", "description": "" }, { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive Pectorodorsal", "description": "" }, { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive, involving shoulder girdle and back", "description": "" }, { "id": "MONDO:0010884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010884", "name": "muscular dystrophy, scapulohumeral", "description": "" }, { "id": "MONDO:0010884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010884", "name": "muscular dystrophy, scapulohumeral", "description": "" }, { "id": "MONDO:0010676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010676", "name": "muscular dystrophy, Hemizygous lethal type", "description": "" }, { "id": "MONDO:0010676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010676", "name": "muscular dystrophy, Hemizygous lethal type", "description": "" }, { "id": "MONDO:0010675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010675", "name": "muscular dystrophy, cardiac type", "description": "" }, { "id": "MONDO:0010675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010675", "name": "muscular dystrophy, cardiac type", "description": "" }, { "id": "MONDO:0010677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010677", "name": "muscular dystrophy, Mabry type", "description": "" }, { "id": "MONDO:0010677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010677", "name": "muscular dystrophy, Mabry type", "description": "" }, { "id": "MONDO:0008028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008028", "name": "muscular dystrophy, Barnes type", "description": "" }, { "id": "MONDO:0008028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008028", "name": "muscular dystrophy, Barnes type", "description": "" }, { "id": "MONDO:0008034", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008034", "name": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "description": "" }, { "id": "MONDO:0008034", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008034", "name": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388488730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488730" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1220, "end_pos": 1220, "sequence_org": "D", "sequence_mut": "N", 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"https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "gene": [ { "name": "Col6a3", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16", "locus": { "chromosome": "1", "start_pos": 90693645, "end_pos": 90771693, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000048126", "url": "https://www.ensembl.org/id/ENSMUSG00000048126" } ] } } ], "crossref": [ { "id": "MGI:88461", "url": "https://alliancegenome.org/gene/MGI:88461", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "ENSMUSG00000048126", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000048126", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd01450", "url": 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{ "id": "A0A087WQN9", "url": "https://www.uniprot.org/uniprotkb/A0A087WQN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WQN9-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WQN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WS16-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YWD1", "url": "https://www.uniprot.org/uniprotkb/D3YWD1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3YWD1-1", "url": "https://www.uniprot.org/uniprotkb/D3YWD1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PWQ3", "url": "https://www.uniprot.org/uniprotkb/E9PWQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PWQ3-1", "url": "https://www.uniprot.org/uniprotkb/E9PWQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQ16", "url": "https://www.uniprot.org/uniprotkb/J3QQ16", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QQ16-1", "url": "https://www.uniprot.org/uniprotkb/J3QQ16-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGIATTHAQQHGVMEVNKRDIVFLVDGSSSLGPSNFNAIRDFVTRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNSYTNKRDAITAVRKMRALNGSALYTGSSLDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDEVSQPAQELKRGSIMALAVGSKAADEDELKEIAFDSSLVFIPAEFRPAPLQNMLPSLMAPLRTLTGTTEESKRDILFLFDGSVNVLGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRLESRFSEHQTKAEILNLVKKMKLKTGKALNLGYALDYALRNIFVRSAGSRIEDNVQQFLVLLVAGRSSDAVAGPASSLKQRGVVPFIFQAKNANPSELEQIVLSPAFILAAESLPKIGDLQSQIVSLLKAEQGSGPVSGEKDVVFLIDGSEGVRSGFPLLKDFVQRVVESLDVGPDRVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALEFVLRNILTSSTGSRIAEGVPQLLIVLTAEPSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREELSSLKPILTPSTGAGVGSKKDVVFLIDGSRNAGPEFQYIRTLIERIVEYLDIGFDTTRVAVIQFSEDSKMEFPLNAHFSKDEVQNAVRRLRPKGGSQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSDDEVDDSAVELKQFGVAPLTIARHTDQEELVKISLSPEYVYSVSTFRELPRLEQKLLTPITTLTSQQIHQILASTRYPPSVVESDAADIVFLIDSSDAVKPDGIAHIRDFVSRIVRRLNIGPSKVRIGVVQFSNDVFPEFYLKTHKSQSSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVARHAQVISSSGIVSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGATPQPPGVDLPSPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAINKVVYKGGRHANTRVGIEHLLRNHFVPEAGSRLDERVPQIAFVITGGKSVEDAQDVSLALTQKGVKVFAVGVRNIDSEEVGKIASNSATAFRVGSVQELSELSETVLETLHDAMHETLCPGVTDVSKACNLEVILGFDGSRDQNVFVSQKGLESKVDIILNRISQIQRISCSGNQLPTVRVSVMANTPSGPVEAFDFAEYQPELFEKFRNMRSQRPYVLTADTLKLYQNKFRQSSPDTVKVVIHFTDGADGDMADLYRASEELRQAGAQALILVGLERVANLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGERGDRGPIGSIGPKGISGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGELGEIGLDGLDGEEGDKGLPGSSGEKGSPGRRGDKGPKGDKGERGDVGIRGDPGDSGRDSQQRGPKGETGDIGPMGLPGRDGIPGSPGDPGKDGGSGRRGPAGAKGNRGGPGQPGFEGEQGTRGSQGPPGPIGPPGLIGEQGIPGPRGGGGTAGAPGERGRTGPLGRKGEPGEPGPKGSIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGTPGEPGADGPPGPKGIRGRRGNSGPPGATGQKGDPGYPGPSGHKGNRGDSVDQCALIQSIRDKCPCCYGPLECPVFPTELAFALDTSEGVTQDTFSRMREVLLGIVGDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKKKSALLDSIQNLQVALTSKQQSLETAMSFVARNTFKRVRSGFLMRKVAVFFSNKPTRASPQLREAVLKLSDAGITPLFLTSQEDRQLINALQINNTAVGHALVLPARRDLTDFLKNVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDLAFILDSSEATTLFQFNEMKKYIGYVIRQLDLSPDPKASQHFARVAVVQQSTYESVDNASVPPVKVEFSLTDYGAKEKLLDFLSRRMTQLQGTMGLGNAIEYTIENIFESAPNPRDLKIMVLMLTGDMQRQQLEEAQRAILQAKCKGYFFVVLGIGRKVNIKEVYSFASEPNDVFFKFVDKSTELNEEPLMRFGRLLPSFVSSENAFYLPPDLRKQCDWFQGDQPVKNGVKFGHKQINPPHTANSSLTSKVVTTMKPVTTTKPTAIVNLPPAKPAPARPAPAQPVLAKPDPAKPAQARPAPAKPASAKLVPPQPVHVQPAPAQTASVRPAPAKPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARPALAAKPAAAKPAATRPLAAAIRPVATKPEAPRQQAKPAATKPATTKPLARVSREVQVSEVTENSARLHWERPEPSSSFFYDLTVTSAHDQSLVLRQNLTVTDRVIGGLLAGQLYHVVVVSYLQSQVRAIYQGSFNTKKTQPPPLQAAHRASSSTINLMVNTEPLFLTKTDICKLSRDAGTCVDFKLLWHYDLESKSCKRFWYGGCGGNENRFHSQEECEKMCSPDLLV", "length": 2677, "header": "tr|A0A087WS16-1|A0A087WS16_MOUSE Isoform 1 of von Willebrand factor A domain-containing protein 1 OS=Mus musculus OX=10090 GN=Col6a3 PE=1 SV=1 CANONICAL=A0A087WS16-1" }, "isoforms": [ { "isoform_ac": "A0A087WQN9-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16/entry#A0A087WQN9-1", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGIATTHAQQHGAQDSADIIFLIDGSQNTGNANFDVIRDFLVNVLERLSVGNQQVQV", "length": 74, "header": "tr|A0A087WQN9-1|A0A087WS16_MOUSE Computationally mapped isoform of von Willebrand factor A domain-containing protein 1 OS=Mus musculus OX=10090 GN=Col6a3 PE=1 SV=1 CANONICAL=A0A087WS16-1" }, "locus": { "chromosome": "1", "start_pos": 90757952, "end_pos": 90749993, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000187753.2", "url": "https://www.ensembl.org/id/ENSMUST00000187753.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140280.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140280.2" } ] } }, { "isoform_ac": "A0A087WS16-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16/entry#A0A087WS16-1", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGIATTHAQQHGVMEVNKRDIVFLVDGSSSLGPSNFNAIRDFVTRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNSYTNKRDAITAVRKMRALNGSALYTGSSLDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDEVSQPAQELKRGSIMALAVGSKAADEDELKEIAFDSSLVFIPAEFRPAPLQNMLPSLMAPLRTLTGTTEESKRDILFLFDGSVNVLGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRLESRFSEHQTKAEILNLVKKMKLKTGKALNLGYALDYALRNIFVRSAGSRIEDNVQQFLVLLVAGRSSDAVAGPASSLKQRGVVPFIFQAKNANPSELEQIVLSPAFILAAESLPKIGDLQSQIVSLLKAEQGSGPVSGEKDVVFLIDGSEGVRSGFPLLKDFVQRVVESLDVGPDRVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALEFVLRNILTSSTGSRIAEGVPQLLIVLTAEPSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREELSSLKPILTPSTGAGVGSKKDVVFLIDGSRNAGPEFQYIRTLIERIVEYLDIGFDTTRVAVIQFSEDSKMEFPLNAHFSKDEVQNAVRRLRPKGGSQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSDDEVDDSAVELKQFGVAPLTIARHTDQEELVKISLSPEYVYSVSTFRELPRLEQKLLTPITTLTSQQIHQILASTRYPPSVVESDAADIVFLIDSSDAVKPDGIAHIRDFVSRIVRRLNIGPSKVRIGVVQFSNDVFPEFYLKTHKSQSSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVARHAQVISSSGIVSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGATPQPPGVDLPSPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAINKVVYKGGRHANTRVGIEHLLRNHFVPEAGSRLDERVPQIAFVITGGKSVEDAQDVSLALTQKGVKVFAVGVRNIDSEEVGKIASNSATAFRVGSVQELSELSETVLETLHDAMHETLCPGVTDVSKACNLEVILGFDGSRDQNVFVSQKGLESKVDIILNRISQIQRISCSGNQLPTVRVSVMANTPSGPVEAFDFAEYQPELFEKFRNMRSQRPYVLTADTLKLYQNKFRQSSPDTVKVVIHFTDGADGDMADLYRASEELRQAGAQALILVGLERVANLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGERGDRGPIGSIGPKGISGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGELGEIGLDGLDGEEGDKGLPGSSGEKGSPGRRGDKGPKGDKGERGDVGIRGDPGDSGRDSQQRGPKGETGDIGPMGLPGRDGIPGSPGDPGKDGGSGRRGPAGAKGNRGGPGQPGFEGEQGTRGSQGPPGPIGPPGLIGEQGIPGPRGGGGTAGAPGERGRTGPLGRKGEPGEPGPKGSIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGTPGEPGADGPPGPKGIRGRRGNSGPPGATGQKGDPGYPGPSGHKGNRGDSVDQCALIQSIRDKCPCCYGPLECPVFPTELAFALDTSEGVTQDTFSRMREVLLGIVGDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKKKSALLDSIQNLQVALTSKQQSLETAMSFVARNTFKRVRSGFLMRKVAVFFSNKPTRASPQLREAVLKLSDAGITPLFLTSQEDRQLINALQINNTAVGHALVLPARRDLTDFLKNVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDLAFILDSSEATTLFQFNEMKKYIGYVIRQLDLSPDPKASQHFARVAVVQQSTYESVDNASVPPVKVEFSLTDYGAKEKLLDFLSRRMTQLQGTMGLGNAIEYTIENIFESAPNPRDLKIMVLMLTGDMQRQQLEEAQRAILQAKCKGYFFVVLGIGRKVNIKEVYSFASEPNDVFFKFVDKSTELNEEPLMRFGRLLPSFVSSENAFYLPPDLRKQCDWFQGDQPVKNGVKFGHKQINPPHTANSSLTSKVVTTMKPVTTTKPTAIVNLPPAKPAPARPAPAQPVLAKPDPAKPAQARPAPAKPASAKLVPPQPVHVQPAPAQTASVRPAPAKPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARPALAAKPAAAKPAATRPLAAAIRPVATKPEAPRQQAKPAATKPATTKPLARVSREVQVSEVTENSARLHWERPEPSSSFFYDLTVTSAHDQSLVLRQNLTVTDRVIGGLLAGQLYHVVVVSYLQSQVRAIYQGSFNTKKTQPPPLQAAHRASSSTINLMVNTEPLFLTKTDICKLSRDAGTCVDFKLLWHYDLESKSCKRFWYGGCGGNENRFHSQEECEKMCSPDLLV", "length": 2677, "header": "tr|A0A087WS16-1|A0A087WS16_MOUSE Isoform 1 of von Willebrand factor A domain-containing protein 1 OS=Mus musculus OX=10090 GN=Col6a3 PE=1 SV=1 CANONICAL=A0A087WS16-1" }, "locus": { "chromosome": "1", "start_pos": 90757952, "end_pos": 90693645, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000188587.7", "url": "https://www.ensembl.org/id/ENSMUST00000188587.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140858.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140858.2" } ] } }, { "isoform_ac": "D3YWD1-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16/entry#D3YWD1-1", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGIATTHAQQHGDVKNGAAADIVFLVDSSWSAGKDRFLLVQEFLSDVVESLAVGDNDFHFALVRLNGNPHTEFLLNTYHSKQEVLSHIVNMSYIGGSNQTGKGLEYVIHSHLTEASGSRAADGVPQVIIVLTDGQSEDGFALPSAELKSADVNVFAVGVEGADERALGEVASEPLSMHVFNLENVTSLHGLVGNLVSCIHSSVNPERAGDKESLKDITAQDSADIIFLIDGSQNTGNANFDVIRDFLVNVLERLSVGNQQVQVGVVQYSEEPITMFSLNSYPSKAAVLDAVKGLSLVGGESANIGQALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRDSVVALKQASVFSFGLGAQAASRAELQHIATDDSLVFTVPEFRSFGDLQEQILPYLVGVAQRHIVLQPPAIVTQVMEVNKRDIVFLVDGSSSLGPSNFNAIRDFVTRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNSYTNKRDAITAVRKMRALNGSALYTGSSLDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDEVSQPAQELKRGSIMALAVGSKAADEDELKEIAFDSSLVFIPAEFRPAPLQNMLPSLMAPLRTLTGTTEVHVNKRDIIFLLDGSDNVGKNNFPYVRDFVTNLVNSLDVGSDNIRVGLVQFSDTPVTEFSLDTYQTKSELLAHLRRLQLKGGSGLNAGSALSYIHANHFTEAGGSRTREHVPQLLLLLMAGPSEDAYLQAANALVRSGVLTFCVGTNRADKAELEHIAFNPSLVYLMDDFRSLPSLPQQLIQPLTTYVSGGVQEVPLSQPESKRDILFLFDGSVNVLGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRLESRFSEHQTKAEILNLVKKMKLKTGKALNLGYALDYALRNIFVRSAGSRIEDNVQQFLVLLVAGRSSDAVAGPASSLKQRGVVPFIFQAKNANPSELEQIVLSPAFILAAESLPKIGDLQSQIVSLLKAEQGSGPVSGEKDVVFLIDGSEGVRSGFPLLKDFVQRVVESLDVGPDRVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALEFVLRNILTSSTGSRIAEGVPQLLIVLTAEPSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREELSSLKPILTPSTGAGVGSKKDVVFLIDGSRNAGPEFQYIRTLIERIVEYLDIGFDTTRVAVIQFSEDSKMEFPLNAHFSKDEVQNAVRRLRPKGGSQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSDDEVDDSAVELKQFGVAPLTIARHTDQEELVKISLSPEYVYSVSTFRELPRLEQKLLTPITTLTSQQIHQILASTRYPPSVVESDAADIVFLIDSSDAVKPDGIAHIRDFVSRIVRRLNIGPSKVRIGVVQFSNDVFPEFYLKTHKSQSSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVARHAQVISSSGIVSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGATPQPPGVDLPSPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAI", "length": 1703, "header": "tr|D3YWD1-1|A0A087WS16_MOUSE Computationally mapped isoform of von Willebrand factor A domain-containing protein 1 OS=Mus musculus OX=10090 GN=Col6a3 PE=1 SV=2 CANONICAL=A0A087WS16-1" }, "locus": { "chromosome": "1", "start_pos": 90757952, "end_pos": 90730196, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000130846.9", "url": "https://www.ensembl.org/id/ENSMUST00000130846.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000115210.3", "url": "https://www.ensembl.org/id/ENSMUSP00000115210.3" } ] } }, { "isoform_ac": "E9PWQ3-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16/entry#E9PWQ3-1", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGIATTHAQQHGDVKNGAAADIVFLVDSSWSAGKDRFLLVQEFLSDVVESLAVGDNDFHFALVRLNGNPHTEFLLNTYHSKQEVLSHIVNMSYIGGSNQTGKGLEYVIHSHLTEASGSRAADGVPQVIIVLTDGQSEDGFALPSAELKSADVNVFAVGVEGADERALGEVASEPLSMHVFNLENVTSLHGLVGNLVSCIHSSVNPERAGDKESLKDITAQDSADIIFLIDGSQNTGNANFDVIRDFLVNVLERLSVGNQQVQVGVVQYSEEPITMFSLNSYPSKAAVLDAVKGLSLVGGESANIGQALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRDSVVALKQASVFSFGLGAQAASRAELQHIATDDSLVFTVPEFRSFGDLQEQILPYLVGVAQRHIVLQPPAIVTQVMEVNKRDIVFLVDGSSSLGPSNFNAIRDFVTRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNSYTNKRDAITAVRKMRALNGSALYTGSSLDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDEVSQPAQELKRGSIMALAVGSKAADEDELKEIAFDSSLVFIPAEFRPAPLQNMLPSLMAPLRTLTGTTEVHVNKRDIIFLLDGSDNVGKNNFPYVRDFVTNLVNSLDVGSDNIRVGLVQFSDTPVTEFSLDTYQTKSELLAHLRRLQLKGGSGLNAGSALSYIHANHFTEAGGSRTREHVPQLLLLLMAGPSEDAYLQAANALVRSGVLTFCVGTNRADKAELEHIAFNPSLVYLMDDFRSLPSLPQQLIQPLTTYVSGGVQEVPLSQPESKRDILFLFDGSVNVLGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRLESRFSEHQTKAEILNLVKKMKLKTGKALNLGYALDYALRNIFVRSAGSRIEDNVQQFLVLLVAGRSSDAVAGPASSLKQRGVVPFIFQAKNANPSELEQIVLSPAFILAAESLPKIGDLQSQIVSLLKAEQGSGPVSGEKDVVFLIDGSEGVRSGFPLLKDFVQRVVESLDVGPDRVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALEFVLRNILTSSTGSRIAEGVPQLLIVLTAEPSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREELSSLKPILTPSTGAGVGSKKDVVFLIDGSRNAGPEFQYIRTLIERIVEYLDIGFDTTRVAVIQFSEDSKMEFPLNAHFSKDEVQNAVRRLRPKGGSQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSDDEVDDSAVELKQFGVAPLTIARHTDQEELVKISLSPEYVYSVSTFRELPRLEQKLLTPITTLTSQQIHQILASTRYPPSVVESDAADIVFLIDSSDAVKPDGIAHIRDFVSRIVRRLNIGPSKVRIGVVQFSNDVFPEFYLKTHKSQSSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVARHAQVISSSGIVSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGATPQPPGVDLPSPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAINKVVYKGGRHANTRVGIEHLLRNHFVPEAGSRLDERVPQIAFVITGGKSVEDAQDVSLALTQKGVKVFAVGVRNIDSEEVGKIASNSATAFRVGSVQELSELSETVLETLHDAMHETLCPGVTDVSKACNLEVILGFDGSRDQNVFVSQKGLESKVDIILNRISQIQRISCSGNQLPTVRVSVMANTPSGPVEAFDFAEYQPELFEKFRNMRSQRPYVLTADTLKLYQNKFRQSSPDTVKVVIHFTDGADGDMADLYRASEELRQAGAQALILVGLERVANLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGERGDRGPIGSIGPKGISGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGELGEIGLDGLDGEEGDKGLPGSSGEKGSPGRRGDKGPKGDKGERGDVGIRGDPGDSGRDSQQRGPKGETGDIGPMGLPGRDGIPGSPGDPGKDGGSGRRGPAGAKGNRGGPGQPGFEGEQGTRGSQGPPGPIGPPGLIGEQGIPGPRGGGGTAGAPGERGRTGPLGRKGEPGEPGPKGSIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGTPGEPGADGPPGPKGIRGRRGNSGPPGATGQKGDPGYPGPSGHKGNRGDSVDQCALIQSIRDKCPCCYGPLECPVFPTELAFALDTSEGVTQDTFSRMREVLLGIVGDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKKKSALLDSIQNLQVALTSKQQSLETAMSFVARNTFKRVRSGFLMRKVAVFFSNKPTRASPQLREAVLKLSDAGITPLFLTSQEDRQLINALQINNTAVGHALVLPARRDLTDFLKNVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDLAFILDSSEATTLFQFNEMKKYIGYVIRQLDLSPDPKASQHFARVAVVQQSTYESVDNASVPPVKVEFSLTDYGAKEKLLDFLSRRMTQLQGTMGLGNAIEYTIENIFESAPNPRDLKIMVLMLTGDMQRQQLEEAQRAILQAKCKGYFFVVLGIGRKVNIKEVYSFASEPNDVFFKFVDKSTELNEEPLMRFGRLLPSFVSSENAFYLPPDLRKQCDWFQGDQPVKNGVKFGHKQINPPHTANSSLTSKVVTTMKPVTTTKPTAIVNLPPAKPAPARPAPAQPVLAKPDPAKPAQARPAPAKPASAKLVPPQPVHVQPAPAQTASVRPAPAKPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARPALAAKPAAAKPAATRPLAAAIRPVATKPEAPRQQAKPAATKPATTKPLARVSREVQVSEVTENSARLHWERPEPSSSFFYDLTVTSAHDQSLVLRQNLTVTDRVIGGLLAGQLYHVVVVSYLQSQVRAIYQGSFNTKKTQPPPLQAAHRASSSTINLMVNTEPLFLTKTDICKLSRDAGTCVDFKLLWHYDLESKSCKRFWYGGCGGNENRFHSQEECEKMCSPDLLV", "length": 3284, "header": "tr|E9PWQ3-1|E9PWQ3_MOUSE Computationally mapped isoform of Collagen alpha-3(VI) chain OS=Mus musculus OX=10090 GN=Col6a3 PE=1 SV=2 CANONICAL=A0A087WS16-1" }, "locus": { "chromosome": "1", "start_pos": 90757952, "end_pos": 90693645, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000056925.16", "url": "https://www.ensembl.org/id/ENSMUST00000056925.16" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000057131.10", "url": "https://www.ensembl.org/id/ENSMUSP00000057131.10" } ] } }, { "isoform_ac": "J3QQ16-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16/entry#J3QQ16-1", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGIATTHAQQHGVMEVNKRDIVFLVDGSSSLGPSNFNAIRDFVTRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNSYTNKRDAITAVRKMRALNGSALYTGSSLDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDEVSQPAQELKRGSIMALAVGSKAADEDELKEIAFDSSLVFIPAEFRPAPLQNMLPSLMAPLRTLTGTTEESKRDILFLFDGSVNVLGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRLESRFSEHQTKAEILNLVKKMKLKTGKALNLGYALDYALRNIFVRSAGSRIEDNVQQFLVLLVAGRSSDAVAGPASSLKQRGVVPFIFQAKNANPSELEQIVLSPAFILAAESLPKIGDLQSQIVSLLKAEQGSGPVSGEKDVVFLIDGSEGVRSGFPLLKDFVQRVVESLDVGPDRVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALEFVLRNILTSSTGSRIAEGVPQLLIVLTAEPSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREELSSLKPILTPSTGAGVGSKKDVVFLIDGSRNAGPEFQYIRTLIERIVEYLDIGFDTTRVAVIQFSEDSKMEFPLNAHFSKDEVQNAVRRLRPKGGSQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSDDEVDDSAVELKQFGVAPLTIARHTDQEELVKISLSPEYVYSVSTFRELPRLEQKLLTPITTLTSQQIHQILASTRYPPSVVESDAADIVFLIDSSDAVKPDGIAHIRDFVSRIVRRLNIGPSKVRIGVVQFSNDVFPEFYLKTHKSQSSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVARHAQVISSSGIVSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGATPQPPGVDLPSPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAINKVVYKGGRHANTRVGIEHLLRNHFVPEAGSRLDERVPQIAFVITGGKSVEDAQDVSLALTQKGVKVFAVGVRNIDSEEVGKIASNSATAFRVGSVQELSELSETVLETLHDAMHETLCPGVTDVSKACNLEVILGFDGSRDQNVFVSQKGLESKVDIILNRISQIQRISCSGNQLPTVRVSVMANTPSGPVEAFDFAEYQPELFEKFRNMRSQRPYVLTADTLKLYQNKFRQSSPDTVKVVIHFTDGADGDMADLYRASEELRQAGAQALILVGLERVANLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGERGDRGPIGSIGPKGISGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGELGEIGLDGLDGEEGDKGLPGSSGEKGSPGRRGDKGPKGDKGERGDVGIRGDPGDSGRDSQQRGPKGETGDIGPMGLPGRDGIPGSPGDPGKDGGSGRRGPAGAKGNRGGPGQPGFEGEQGTRGSQGPPGPIGPPGLIGEQGIPGPRGGGGTAGAPGERGRTGPLGRKGEPGEPGPKGSIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGTPGEPGADGPPGPKGIRGRRGNSGPPGATGQKGDPGYPGPSGHKGNRGDSVDQCALIQSIRDKCPCCYGPLECPVFPTELAFALDTSEGVTQDTFSRMREVLLGIVGDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKKKSALLDSIQNLQVALTSKQQSLETAMSFVARNTFKRVRSGFLMRKVAVFFSNKPTRASPQLREAVLKLSDAGITPLFLTSQEDRQLINALQINNTAVGHALVLPARRDLTDFLKNVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDLAFILDSSEATTLFQFNEMKKYIGYVIRQLDLSPDPKASQHFARVAVVQQSTYESVDNASVPPVKVEFSLTDYGAKEKLLDFLSRRMTQLQGTMGLGNAIEYTIENIFESAPNPRDLKIMVLMLTGDMQRQQLEEAQRAILQAKCKGYFFVVLGIGRKVNIKEVYSFASEPNDVFFKFVDKSTELNEEPLMRFGRLLPSFVSSENAFYLPPDLRKQCDWFQGDQPVKNGVKFGHKQINPPHTANSSLTSKVVTTMKPVTTTKPTAIVNLPPAKPAPARPAPAQPVLAKPDPAKPAQARPAPAKPASAKLVPPQPVHVQPAPAQTASVRPAPAKPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAPPQPAAAKPVPAKPAVPAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARPALAAKPAAAKPAATRPLAAAIRPVATKPEAPRQQAKPAATKPATTKPLARVSREVQVSEVTENSARLHWERPEPSSSFFYDLTVTSAHDQSLVLRQNLTVTDRVIGGLLAGQLYHVVVVSYLQSQVRAIYQGSFNTKKTQPPPLQAAHRASSSTINLMVNTEPLFLTKTDICKLSRDAGTCVDFKLLWHYDLESKSCKRFWYGGCGGNENRFHSQEECEKMCSPELTV", "length": 2677, "header": "tr|J3QQ16-1|J3QQ16_MOUSE Computationally mapped isoform of von Willebrand factor A domain-containing protein 1 OS=Mus musculus OX=10090 GN=Col6a3 PE=1 SV=1 CANONICAL=A0A087WS16-1" }, "locus": { "chromosome": "1", "start_pos": 90757952, "end_pos": 90695317, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000097653.11", "url": "https://www.ensembl.org/id/ENSMUST00000097653.11" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000137585.2", "url": "https://www.ensembl.org/id/ENSMUSP00000137585.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALNGSALYTGSSLDFVR", "relation": "attached", "comment": "", "start_pos": 111, "start_aa": "Asn", "end_pos": 111, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn111", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ], "filter_code": "00100000000000000000.xxxxxxx.00010000000000.xxxxxxx.xxxxxxxxxx.xxxxxxxxxxxxxx.xxxxx.xxxxx" }, { "glytoucan_ac": "G72790NZ", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPPGVNGTQGFQGCPGQR", "relation": "attached", "comment": "", "start_pos": 1469, "start_aa": "Asn", "end_pos": 1469, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1469", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ], "filter_code": 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"site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "start_pos": 495, "start_aa": "Thr", "end_pos": 495, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr495", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ], "filter_code": "00000000000000001000.00000000001000.0.xxxxx" }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALNGSALYTGSSLDFVR", "relation": "attached", "comment": "", "start_pos": 518, "start_aa": "Asn", "end_pos": 518, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn111", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ], "filter_code": "00100000000000000000.xxxxxxx.00010000000000.xxxxxxx.xxxxxxxxxx.xxxxxxxxxxxxxx.xxxxx.xxxxx" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "A0A087WS16", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A087WS16" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" } ], "filter_code": "00000000000000000000.xxxxxxx.00000001000000.xxxxxxx.xxxxxxxxxx.xxxxxxxxxxxxxx.xxxxx.xxxxx" } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "Modernizing reference genome assemblies.", "journal": "PLoS Biol.", "date": "2011", "authors": "Church Deanna M, Schneider Valerie A, Graves Tina, Auger Katherine, Cunningham Fiona, Bouk Nathan, Chen Hsiu-Chuan, Agarwala Richa, McLaren William M, Ritchie Graham R S, Albracht Derek, Kremitzki Milinn, Rock Susan, Kotkiewicz Holland, Kremitzki Colin, Wollam Aye, Trani Lee, Fulton Lucinda, Fulton Robert, Matthews Lucy, Whitehead Siobhan, Chow Will, Torrance James, Dunn Matthew, Harden Glenn, Threadgold Glen, Wood Jonathan, Collins Joanna, Heath Paul, Griffiths Guy, Pelan Sarah, Grafham Darren, Eichler Evan E, Weinstock George, Mardis Elaine R, Wilson Richard K, Howe Kerstin, Flicek Paul, Hubbard Tim", "evidence": [ { "database": "UniProtKB", "id": "D3YWD1", "url": "https://www.uniprot.org/uniprotkb/D3YWD1" } ], "reference": [ { "type": "PubMed", "id": "21750661", "url": "https://glygen.org/publication/PubMed/21750661" } ] }, { "title": "A structure of a collagen VI VWA domain displays N and C termini at opposite sides of the protein.", "journal": "Structure", "date": "2014", "authors": "Becker Ann-Kathrin A, Mikolajek Halina, Paulsson Mats, Wagener Raimund, Werner J\u00f6rn M", "evidence": [ { "database": "UniProtKB", "id": "E9PWQ3", "url": "https://www.uniprot.org/uniprotkb/E9PWQ3" } ], "reference": [ { "type": "PubMed", "id": "24332716", "url": "https://glygen.org/publication/PubMed/24332716" } ] }, { "title": "Differential Detection of O-GlcNAcylated proteins in the heart using antibodies.", "journal": "Analytical biochemistry", "date": "2023-10-01", "authors": "Narayanan Bhargavi, Zahra Fiddia, Reeves Russell A, Aggarwal Akanksha, O'Meally Robert N, Henry Roger K, Craven Megan, Jacobson Avital, Cole Robert N, Kohr Mark J, Umapathi Priya, Zachara Natasha E", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0A087WS16", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A087WS16" } ], "reference": [ { "type": "PubMed", "id": "37507081", "url": "https://glygen.org/publication/PubMed/37507081" } ] }, { "title": "A reference dataset of O-GlcNAc proteins in quadriceps skeletal muscle from mice.", "journal": "Glycobiology", "date": "2025-02-10", "authors": "Jaiswal Ruchi, Liu Yimin, Petriello Michael, Zhang Xiangmin, Yi Zhengping, Fehl Charlie", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0A087WS16", 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"MRKHRHLPLVAIFCLFFSGFSFTRAQQQADVKKGAAADIIFLVDSSWSIGKEHFQLVREFLYDVIKSLAVGENDFRFALVQFNGNPHTEFLLNTYRSKQDVLSHVSNLSYFGGSNQTGKGLEYVMQNHLTEAAGSRARDGVPQVIVVLTDRPSKDGLVLPSAELKSADVNVFAVGVEDADEGALKEIASEPLNMHVFNLENFTSLHDLVGNLVSCVHSSMTPEGAGGTETLKDITAQESADIIFLIDGSNETGSVHFAVILDFLVNLLERLSVGAQQIRVGVVQYSDEPRTMFSLNSFATKAQVLDAVKALGFLGGELANVGLALDFVVDHHFTRAGGSRVEEGVPQVLVLISAAPSSDKIRDAVLALKQASVFSFGLGAQAASKAELQHIATNDNFVFTVPEFRSFGDLQDQLLPYIVGIAHRHIVLQPPTIVTQVIEVNKRDIVFLVDGSSALGPANFQAIRDFIAKVIQRLDIGQDLIQVAVAQYADTVRPEFYFNTHPNKREVMAAVRRMKPLDGAALYTGSALEFVRNNMFTSEAGYRAAEGVPRLLVLITGGKSLDDVSQPAQELKRSSIMAFAVGNKAADQAELEEIAFDPSLVFIPTEFRASPLQGVLSSLLAPLRTLSGTTEDPAVTLVTMDIIFLLDGSVNVGRTRFPYVRDFVMNLVNSLDVGGDNIRVGLVQFSDTPVTEFSLNTYQTKSDLLAHVRQLQLKGGSGLNTGAALSYVHANHFTEAGGSRIQEQVPQLLLLLTAGPSEDSYLQAANALARSGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSGNLLGQFSAVRDFLYKVIDELDVKPDGTRIAVAQYSDNVRIESSFAEHQTKPEILNLVKRMKLKTGKALNLGYALDFAQRYIFVKSNGSRIEDGVLQILVLLVAGRSSDSVDRPALNLKQSGVVPFILQAKNADPGELELIVPSPAFILAAESLPKIGDLQPHIVNLLKSVQNGAPTPVSGEKDVVFLIDGSEGVRSGFPLLKEFVQRVVESLDVGPDRVRVAVVQYSDRTRPEFYLNSYMDQQSVVNAVRQLTLLGGPIPNTGAALDFVLRDILTESAGSRIAEGIPQLLIVLTADRSGDDVRGPSVVLKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTRLDREELRRLQASVVPLTSVSGKRDVVFLIDGSQTAGPEFQYIRTLIERLVDSLDVGFDTSRVAVIQFSEDPRVEFLLNAHSSKDEVQNAVRRLRPKGGRRINIGGALEYVSKNIFKRPLGSRIEEGVPQFLILISSGKSDDEVDDSAAELKQFGVAPLTIARNADPEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTAEQIQQLLASTRPDIVSMRIDAADIVFLIDSSDGVKPDGIAHIRDFVIRIVRRLNIGPNKVRVGVVQFSNDVFPEFYLKTYRSQASVLDAIRRLRFKGGSPLNTGKALEFVARNFFVKSAGSRIEDGVPQHLVLFLGGKSQDDVSRYSQVMGSSGIVRLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERVMNSFGPSGVTPAPPGKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEGGDSIQVGLVQYNSDPTDEFFLKDFSTKQQIIDAINKVVYKGGRHANTKVGLEHLRLNQFVPEAGSRLEQRVPQIAFVITGGKSVEDAQEASLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDISKACNLEVILGFDGSRDQNIFVAQKGFESKVDTILNRISQMQRISCSGTQMPTVRVSVVATTPAGPVEAFDFAEYQPEMFEKILGMRTQHPYVLTADTLKLYQNKFRQGSPGSVKVSAAALASASWAREADRVQALILVGLERVPNLEQLMQLEFGRGFTYNRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGMNGTQGFQGCPGQRGIKGSRGFPGEKGELGEIGLDGLDGEDGDKGLPGTSGDKGSPGRRGDKGPKGDKGERGDVGIRGDPVRGTFRRPWKMPFPVSSVSVPPHLPPPPRPTGPLECPVFPTELAFALDTSEGVTQDTFSLMRDVVLRIVDELTIAESNCPRGARVAVVTYNNEVITEIRFADSRKKSVLLDKIKNLQVVLTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNKPTRASPQLREAVLKLSDAGITPLFLTSQEDRVLINALQINNTAVGHALVLPARRDLPDFLKNVLTCHVCLDICNIDPSCSLGSWRPSFRDRRAAGSDVDIDMAFIVDSSETTTPFQFNEMRKYIGYVVRQLDLSPDPKASQHFARVAVVQHAPWESVGNASVPPVKVDFSLTDYGSKEKLVAFLSSRMTQLQGTRALGSAIYYTVENVFESAPNPRDLKIVVLMLTGEVQKEQLEEAQRAILQAKCKGYFFVILGIGRKVNVKELYSFASEPNDVFFKLVDKSSELNEEPLMRFGRLLPSFVSSENAFYLSPDVRKQCDWFQGDQPAKNLVKFGHKQVPASKPVTTTKPVTTTEPVTATTKPVTMVNLPASKLAAPKPVAGRPVATKTEATKPEVTKTEAAKPETTKPVAAKPETAKPVAAKPEAAKPVAARPEAAKVHVSEITENSAKLHWERPEPPSPYFYDLTVTSAQDQSLVLKQNLTVPDRVIGGLLAGQTYHVSVVCYLKSQVRATYHGSFSTSKSTVGLWKVASSSTINLMVNTEPLAGSEADVCKLPKDGGTCRKFIIKWYHDAVTGNCARFWYGGCGGNENRFDSQEECEKVCSPGK", "length": 2901 }, "evidence": [ { "id": "A0A087WS16", "url": "https://omabrowser.org/oma/group/A0A087WS16/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "A0A8I6AHL9-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "Col6a3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRKHRHLPLVAVFSLLLSGITMTHAQQQSDVKNGAAADILFLVDSSWSAGKDRFLLVQEFLSDVVESLSVGDNDFHFALVRLNGNPHTEFLLNAYHSKQEVLSHILNMSYIGESNQTGKGLEYIIHSHLTEASGSRAADGVPQVIVVLTDGQSEEDGFALPSAELKSADVNVFAVGVEDADERTLREIASEPLSMHVFNLENVTSLHDMVGNLVSCIHSSVNPERAGDKESLKDITAQDSADIIFLIDGSQNTGKANFDVIRDFLVNVLERLSVGNQQVRVGVVQYSDEPRTMFSLDSYPSKAAVLDAVKRLSFAGGELANIGQALDFVVENHFTRTGGSRVEEGVPQVLVLISAGPSSDEIRDAVVALKQGSVFSFGLGAQAASRVELQHIATDDNLVFTVPEFRSFGDLQEQLLPYLVGVAQRHFVLQPPAIVTQVMEVNKRDIVFLVDGSSSLGQANFNAIRDFISRVIQRLEIGQDLVQVSVAQYADTVKPEFYLNTYSTKKDAITTVRKMKALEGSALYTGSALDFVRNNLFTSSAGHRAAEGVPKLLVLITGGKSLDDVSQAAQELQKGSIMALVIGSRAADEDELKEIAFDSSLVFIPAEFRPAPLQSMLPSLMAPLRTLTGTTEVHVNKRDIIFLLDGSDNVGKNNFPYVRDFVTNLVNSLDVGSDNIRVGLVQFSDTPVTEFSLDTYQTKSELLAHLRRLQLKGGTGLNAGSALSYVHANHFTEAGGSRIREHVPQLLLLLMAGPSEDVYLQAANALVRSGVLTFCVGTNQADKAELERIAFNPSLVYLMDDFSALPALPQQLIQPLTTYVSGGVQEVPLSQPEVKRDILFLFDGSVNVMGQFPAVRDFLYRIIEELDVKPDGTRVAIAQFSDDVRVESRFNEHQTKAEILNLVKKMKLKTGKGLNLGLALDHALRTIFVRSAGSRIEDNVQQFLVLLVAGRSTDAVAGPASSLKQRGVIPFIFQAKNANPSELEQIVPSPAFILAAESLPKIGDLQSEIVGLLKAKQTSDTVSGEKDVVFLIDGSEGVRSGFPLLKEFVQRVVESLDVGPNQVRVALVQYSDRTRPEFYLNSHMDQQGVISAIRRLTLLGGPTPNTGAALDFVLRNILTSSTGSRIEEGVPQLLIVLTAERSGDDVRGPSVVLKQGGAVPIGIGIGNADISEMQTISFIPDFAVAIPTFRELGTIQQVISERVIQLNREQLSSLTPVLMPSPSAGPGNKKDVVFLIDGSQNAGAEFQHIRTLIERLVEYLDIGFDTTRVAVIQFSEDTKMEFPLNAHFSKDEVQNAVRRLRPKGGRQVYIGNALEYVLKNIFQRPLGSRIEEGVPQFLVLISSGKSADEVDDSAVELKQFGVAPLTVARHTDQEELVKISLSPEYVFSVSTFRELPRLEQRLLTPITTLTSQQIQQILASTRYPPSVAESDAADIVFLIDSSDAMKPDGIAHIRDFVSRIVRRLNIGPNKVRIGVVQFSNDVFPEFYLKTHKSQNSVLEAIRRLRFKGGSPLNTGRALEFVARNLFVKSAGSRIEDGVPQHLVLFLGGKSQDDVSRHAQVISSSGIMSLGIGDRNIDRTDLQTITNDPRLVFTVREFRELPNIEERVMLSFGPSGPTPQPPEVEFPSSRPEKKKADIVFLLDGSINFRRDSFQEVLRFASEIVDTVYEDGDSIRVGLVQYNSDPTDEFFLRDFSTKRQIIDAINKVIYKGGRHANTRVGIEHLLKNHFVSEAGSRLDERVPQIAFVITGGKSVEDAQDVSLALTQKGVKVFAVGVRNIDSEEVGKIASNSATAFRVGSVQELSELSETVLETLHDAMHETLCPGVTDVSKACNLEVILGFDGSRDQNVFVSQKGLESKVDTILNRISQIQRISCSSNQLPTVRVSVVANTPSGPVEAFDFAEYQPDLFEKFRTMRSQHPYVLTADTLKLYQNKFRQSSPDTVKVVIHFTDGADGDMADLYRASEELRQAGVQALILVGLERVANLERLMQVEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGERGDRGPIGSIGPKGISGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGELGEIGLDGLDGEEGDKGLPGSSGEKGSPGRRGDKGPKGDKGERGDVGIRGDPGDSGRDSQQRGPKGETGDIGPMGLPGRDGIPGSPGDPGKDGGFGRRGPAGAKGNRGGPGQPGFEGEQGTRGSQGPPGPIGPPGLIGEQGIPGPRGGGGTAGAPGERGRTGPLGRKGEPGEPGPKGGTGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGTPGEPGADGPPGPKGIRGRRGNSGPPGVVGQKGDPGYPGPSGHRGNRGDSVDQCALIQSIRDKCPCCYGPLECPVFPTELAFALDTSEGVTQDTFSRMREVLLSIVGDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKKKSALLDSIQNLQVALTSKQPSLETAMSFVARNTFKRVRNGFLMRKVAIFFSNQPTKPSLQLREAVLKLSDAGITPLFLTSQEDRELINALQINNTAVGHALVLPARRDLRDFLKNVLTCHVCLDICNIDPSCGFGNWRPSFRDRRAAGSDVDIDLAFILDSSEATTLFQFNEMKKYISYMVRQLDLSPDPKASQHFARVAVVQQATYESVDNTSVPPVKVEFSLTDYGAKEKLLDFLSRRMTQLQGTMDLGNAIEYTIENIFESAPNPRDLKIVVLMLTGEIPREQLEEAQRAILQAKCKGYFFVVLGIGRKVNVKEVYSFASEPNDVFFKFMDKSTELNEEPLMRFGRLLPSFVGSGNAFYLPPDLRKQCDWFQGDQPVKNGVKFGHRQINTPHTVNSSLTSKVVTTMKPVTTTKPTSIVNLPPAKPAPVRPAPAQPVLAKPDPAKPVSAKSVPPQPVHAQPDPAQPVHVQSASAQTASAKPAPAKPAPPQTAAAKPAPPQTAAAKPAPPQTAAAKPAPPQTAAAKPVPVKPAPAQPVHVQSASAQTASAKPVPAKPAPPQTAAAKPVPVKPAVPAQPAPAQPVHAQPAPAQPVLTKPAAMKPASANKPVAAKPVATNTATVRPASAVKPAAASKPAATRPLPAAVRPVATKPEAPRPQAKPAATKPATTKPMARVSREVQVSEVTENSARLHWERPEPSSSYFYDLTVTSAHDQSLVLRQNLTVTDRVIGGLLAGQLYHVVVVSYLQSQVRAIYQGSFNTKKTQPPVLQAAHRASSSTINLMVNTEPLFLTKTDICKLPKDAGTCEDFKLLWHYDLESKSCKRFWYGGCGGNENRFHSQEECEKMCSPELSV", "length": 3316 }, "evidence": [ { "id": "RGD:1308704", "url": "https://alliancegenome.org/gene/RGD:1308704#orthology", "database": "AGR" }, { "id": "HGNC:2213", "url": "https://alliancegenome.org/gene/HGNC:2213#orthology", "database": "AGR" }, { "id": "MGI:88461", "url": "https://alliancegenome.org/gene/MGI:88461#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070501-8", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070501-8#orthology", "database": "AGR" }, { "id": "A0A087WS16", "url": "https://omabrowser.org/oma/group/A0A087WS16/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "A0A8V0YHJ1-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MRKHRHLPLAAILGLLLSGFCSVGAQQQAAVRNVAVADIIFLVDSSWSIGKEHFQLVREFLYDVVKALDVGGNDFRFALVQFSGNPHTEFQLNTYPSNQDVLSHIANMPYMGGGSKTGKGLEYLIENHLTKAAGSRASEGVPQVIIVLTDGQSQDDVALPSSVLKSAHVNMIAVGVQDAVEGELKEIASRPFDTHLFNLENFTALHGIVGDLVASVRTSMTPEQAGAKGLVKDITAQESADLIFLIDGSDNIGSVNFQAIRDFLVNLIESLRVGAQQIHIGVVQYSDQPRTEFALNSYSTKADVLDAVKALSFRGGKEANTGAALEYVVENLFTQAGGSRIEEAVPQILVLISGGESSDDIREGLLAVKQASIFSFSIGVLNADSAELQQIATDGSFAFTALDIRNLAALRELLLPNIVGVAQRLILLEAPTIVTEVIEVNKKDIVFLIDGSTALGTGPFNSIRDFVAKIVQRLEVGPDLIQVAVAQYADTVRPEFYFNTHQNRKDVMANVKKMKLMGGTALNTGSALDFVRNNFFTSAAGCRMEEGVLPMLVLITGGKSMDAVEQAAAEMKRNRIVILAVGSRNADVAELQEIAHERDFVFQPNDFRLQFMQAILPEVLSPIRTLSGGMVIHETPSVQVTKRDIIFLLDGSLNVGNANFPFVRDFVVTLVNYLDVGTDKIRVGLVQFSDTPKTEFSLYSYQTKSDIIQRLGQLRPKGGSVLNTGSALNFVLSNHFTEAGGSRINEQVPQVLVLVTAGRSADPFLQVSNDLARAGVLTFAVGVRNADKAELEQIAFNPKMVYFMDDFSDLTTLPQELKKPITTYVSGGVEEVPLAPTESKKDILFLIDGSANLLGSFPAVRDFIHKVISDLNVGPDATRVAVAQFSDNIQIEFDFAELPSKQDMLLKVKRMRLKTGKQLNIGVALDEVMRRLFVKEAGSRIEEGIPQFLVLLAAGRSTDEVERPSGALKEAGVVTFAIKAKNADLSELERIAYAPQFILNVESLPRISELQANIVNLLKTIQFQPTVVERGEKKDVVFLIDGSDGVRRGFPLLKTFVERVVESLDIGRDKVRVAIVQYSNAIQPEFLLDAYEDKADLVSAIQALTIMGGSPLNTGAALDYLIKNVFTVSSGSRIAEGVPQFLILLTADRSQDDVRRPSVVLKTSGTVPFGIGIGNADLTELQTISFLPDFAISVPDFSQLDSVQQAVSNRVIRLTKKEIESLAPDLVFTSPSPVGVKRDVVFLVDGSRYAAQEFYLIRDLIERIVNNLDVGFDTTRISVVQFSEHPHVEFLLNAHSTKDEVQGAVRRLRPRGGQQVNVGEALEFVAKTIFTRPSGSRIEEGVPQFLVILSSRKSDDDLEFPSVQVKQVGVAPMVIAKNMDPEEMVQISLSPDYVFQVSSFQELPSLEQKLLAPIETLTADQIRQLLGDVTTIPDVSGEEKDVVFLIDSSDSVRSDGLAHIRDFISRIVQQLDVGPNKVRIGVVQFSNNVFPEFYLRTHKSKNAVLQAIRRLRLRGGYPVNAGKALDYVVKNYFIKSAGSRIEDGVPQHLVVILGDQSQDDVNRPANVISSTSIQPLGVGARNVDRNQLQVITNDPGRVLVVQDFTGLPTLERKVQNILEELTVPTTEGPVYPGPEGKKQADIVFLLDGSINLGRDNFQEVLQFVYSIVDAIYEDGDSIQVGLAQYNSDVTDEFFLKDYSSKPEILDAINKVIYKGGRVANTGAAIKHLQAKHFVKEAGSRIDQRVPQIAFIITGGKSSDDGQGASMEVAQKGVKVFAVGVRNIDLEEVSKLASESATSFRVSTAQELSELNEQVLVTLAAAMKEKLCPGTTDVTRDCDLDVILGFDVSDVGAGQNIFNSQRGLESRVEAVLNRITQMQKISCTGSRAPSVRVAIMAQSRGGPVEGLDFSEYQPELFERFQGMRTRGPYFLTAETLKSYQNKFRSAPSGSTKVVIHFTDGTDDYLDQMKTASADLRRQGVHALLFVGLDRVKNFEEVMQLEFGRGFTYNRPLRVNLLDLDFELAEQLDNIAERTCCGVPCKCSGQRGDRGLPGPIGPKGATGEIGYGGYPGDEGGPGERGPPGVNGTQGFQGCPGHRGTKGSRGFPGEKGELGEMGLDGIDGEEGDKGLPGSSGEKGFSGRRGSKGAKGERGERGDRGLRGDPGESGADNTQRGTRGQKGEIGQMGEPGPAGQRGQDGGVGRKGMAGRRGPIGVKGTKGALGQPGPAGEQGMRGPQGPPGQIGTPGIRGEQGIPGPRAGGGQPGAPGERGRIGPLGQKGEPGNPGPRGPNGQQGPRGEMGDDGRDGIGGPGPKGRKGERGFVGYPGPKGGPGDRGGAGGPGPKGNRGRRGNAGNPGTPGQKGEIGYPGPSGLKGDKGPSISQCALVQNIKDKCPCCYGPKECPVFPTELAFAIDTSSGVGRDVFNRMKQTVLRVVSNLTIAESNCPRGARVALVTYNNEVTTEIRFADARKKSSLLQQIQNFQATLTTKPRSLETAMSFVARNTFKRARSGFLMRKVAVFFSNGETRASPQLNDAVLKLYDAGVTPVFLTSRQDAVLERALEINNTAVGHAIILPTSGSQLNDTIRRLLTCHVCLDVCEPDPICGYGSQRPVFRDRRAAPTDVDTDIAFIMDSSASTTPLQFNEMKKYISHLVSNMEISSEPKISQHHARVAVLQQAPYDHETNSSFPPVKTEFSLTDYGSKEKIINYLHNQMTQLYGTMAMGSAVEHTVAHVFESAPNPRDLKVIVLMITGKMEKQELEYLREAVIDAKCKGYLFVILGIGKNVDVKNIYSLASEPNDVFFKLVSKPGELHEEPLLRFGRLLPSFIRSDFAFYLSPEIRKQCKWLQADQTPKSPGHTGQKAVYIAPNGTVTQTISTTTTLSTTFKPAASTSAHAKTTTASTMAQTRATERPTESTTVQVNATVQSQGSTAANTKATSRTTTSTTAAAASGRRRQGAKMNDIQITDVTENSARLRWASPEPHNAYVFDLAITLAHDHSLVLKQNVTGTERVIGGLRSGQKYLVFITGYLKSQPKVTYTGTFSTKTPAQPKVALANMMLNAEPLEGPENDLADPCLLDFDMGMQCKDYQVVWFFDYKHKICSQGWYGGCGGNANRFETEAECNSKCLKPSAAEKAMQQPPLEKRLSPVMDICLLQKEEGTCRNFVLKWHYDLKTKSCARFWYGGCGGNENRFNTQKECEKACSPGNISPGVVTTIGT", "length": 3215 }, "evidence": [ { "id": "A0A087WS16", "url": "https://omabrowser.org/oma/group/A0A087WS16/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "A0AB32TMZ5-1", "protein_name": "Collagen alpha-3(VI) chain isoform X1", "gene_name": "col6a3", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MGKRQLLLYALWGVMVFGLFPKLEAQDAPGTADLVLLIDGSENVGAANFPLISGLAAQVIEGLAVGRDAIRVALVLYGADPEIKFYLNSYDNRQSVLSAIRGLKYPGGEANLGAALQEVADSLLGEDAGGRAEEGVPQALVVISAGESADDVSQSGRALKQDSVYIFGIAAGDSATAQLEAIATDKSFVLSAPDVRTVSSMGDQILPYINGVAQRNIVIQTDFTEALAVGQRDVIFLIDSSLGSIGINVAREVIRRFIESVPIGPDQVQIGVAMFSTTPKMEIDLNSFSSKEALISALVKIKPKPSVEINIGAALDFVRTNMFRAERGSRIQDGVPQLLLLLTSKKSKDSVQQPAEALRQMGVLTLAAGTRAAQEAELKEIAFDDSVVFMYKDFRVLSRNPKEIISPLSTLSGVVVTETPTETGPVVEVTTVHTQKVVRDIVFLVDGSNYVGNNLRFVKDFINGVVNKLDVRPDRVRIGLMQFAEGQRTEFYLNSHNTKQNVLSAIAQLSLMGGRALNTGAALKYALDNHFQTSSGSRRRQGVQQVLVLITGGPSQDDAKRIADRLALEGVLTFAVGAGQVDLTFLKTAAFVEDLAYYRRNFADLSSVVEKIMTPLITVVGETDTIEGAPTPGPSHGERDVAFLIDGSDDVRGDFPYIRDFISRVIEPLDIGINKVRVSVVQHSDRPSPNFFLDTYQTKDEVLRAVNGLTLAGGRGLNTGAALTFMKNTVLSTARGSRAAQNVPQFLIVLTAGRSRDSVREPAVALKTEGVVPFGVGVKNADPKEIEAISHNPSFAFNVKEFSQLNTVQEKLKNYVNFQEQDLTKFLERVELDASQRDIVFILDGSDDTREAFKQMCHFVQRVVDKLNIGPNRDRVSVVQYSREPQVHFYLNTHATKQKVLNSVESLQHLGGNLLNTGRALEYAKNNLFVAPSGSRLLEGVPQIVVLVTGGRSQDDVRTPAAALKRDQIVPFSIGNQNADVIQLQEISYTPAHTLIVPQFDALQTIEQNLLSYVKRVPRQPRRLPSSTTDAGKRDVVFLIDASDDTKERFSVVKKFVQALVEKLNVAPNKDRISVVQYSDDTAFDFQLNAHSTLDDVISHVKRLIHKGGRLRHTGAALQYIKDNLFTAAAGSRHLEGVPQILIVLSSGRSNDDIRGPVKALKDIGVITLSIGTTNADTLELQALSHQQNYFFISDFGNILDLQENILALVKEVSYQHLPTAITQVSESVKRDVAFLIDGSDDSKIGFEAIRRFIQMVVESLNVEEDLDRVAVVQYSRDPTANFYLSSYSTKKEVLNSIRSLRHKSGRPLNTGAAMLFIKESIFTPSSGSRRHQGVPQILYLFSGGRSADDVRVISQDLRENNIKVFTIGTRNADTLELQTMSVTPAYAFSVPDFNSINSIAQRVVSVLSGDEIPETYPTPEGQVLDVKRNIVFLIDGSDDASDRFTAIREFVASLVETFDVGQEKDQIAVVQFSDTAATSFNLSTHSSTFEVANAIRNLKPKGGRPQYIGQALQFVKDKIFTPRVVSQKIGSVSQNLVLVAGGRSQDTPFGPANELKSMGVTIFAIGSRLEDQIEMEAISTQTDYALAVSDFHDLGNVRQILLAKLTGIRNKGESQVDGTGTGFKRDIAFLVDGSDSIRRGFPEIREFLYNFISNLNVGIDKDRIALIQYSNVAVTNFYLNSFLRKEDVLNAVKVLSHKGGRPLNTGSALRYVKENIFISASGSRQKEGIPQILILLTGGKSRDNISEAAFALKQNGILIYGIGGQYSDSNELHKISSENNVLSLNDFSELPKIQAELLEAFKYNLNYNKKQIAEVDGLRRDVVFLLDGSDGTRNGFPAMKDFVQKMVEKLAAAENRDRISVVQYSREPEANFYLNTYTTKEEILDAVRGLRHKGGRPLYTGAALQYVKDNVFTASSGSRRLEGVPQILVLLSGGKSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSTTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFVIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQFVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFVIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTNEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPGANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVNAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFLAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNIFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFSVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMIPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRDLQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFVIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFININKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQFVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSSTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNIEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPEANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVDAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVKGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQFNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGVPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGARSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRISQEPSYALSVSDFTDLPSVQQQLFTNINKVFVAGVPTTSTTIAEGRRQRRDVVFLLDGSDGTRNGFPAMKDFVQRMVEKLDVAENRDRISVVQYSREPGANFYLNTYTTKEEIVDAVRGLRHKGGRPLYTGEALQYVRDNVFTASSGSRRLEGVPQILVLLSGGRSFDSVNAAASSLKELGVLTFGIGSRGSDSRELQRISYEPSYALSVSDFSELPNVQEQLLASVQVTSIPVTPTSPTVTAEYSTPRKDVVFLLDGSDGTRSSFPAMRDFVQRVVEKFNIEANRDRVSVVQYSRDAEVHFYLNSYTKKEDILDRVTGLRHKGGRPLYTGAALQYVRDNVFTASSGSRRLEGVPQILILLSGGRSFDSVDAAASSLKELGVLTLGIGSRGSDSRELQRISYEANYALSVADFSELPNVQEQLLASVQTVAMSGTPTSPTLTADDTIPRKDVVFLLDGSDGTRNTFPAMRAFVQRLVEQLNVEANRDRISVVQYSRDAEVNFYLNTYTAKADVLNTVRGLRHRGGRPLNTGAALQYVRDSVFTASAGSRKQEGIPQVLILLSGGRSNDNVDTPASALKESGVLILGIGTRNSSREVQRITNDPAYAQSLNDFSDLPGVQQQFYSSLNNVLVQVKPMTPTVAAEPRMARRDVVFLLDGSDGTRSSFSAMRDFVERMVERLNVSENRDRVSVVQYSRDPEAHFYLNTYSRKEDALDTIRGLRHKGGRPLNTGAALQYLRDNVFTASSGSRRVEGVPQLLILLSGTRSFDNVDTPASSLKELGVLIFAIGSRSSDSQELQRVSNEPSYALSVREFSDLSNVQQKLLSNINTALVEVTSLTTTVTVESEGPKKDIIFLIDGSEDVGREFPIIQEFVRRVVSNLNVGENKIRIGVVQYGDIPNADIYLNSHRTKEGVLNGIKELRQLRGTKRNLGQAIDFVRREVLASGRGGRKEEGVPQFVVVVSGGKATDNIRQSATALKQSGIFPLSIGTRDVGTQELQVTSYVPRFAYLVDDLPGLYTIQETLINTLTELSSEELAQLRPVYPTETVVPVPRGDKRDVVFLIDGTSKIRNEFPAIRDMVQRVVEKLDVGLDNVRVSVVQYSDDPKLEFLLNEHSTKEEVRQAIRRLRNKGGNELNTGKALEYVSKTIYQRSAGSRVEEGVPQFLILVTGGKSNDDVSGPANQLKLSRVAPLAVGARDADAEELRLISFSPELAYTIRDFQQLPGVEQQLLTKVSTMTRDEISTPAVPRDPLNLGRKDIIFLIDGSDSVGQSGVAHIRDFILKVVDQLDVRPDQVRVALVQYGERPKTEFSLNSHDNKQSVISAIKRLRHMGGRGADLAEAIKYVIRNELQASAGVRLAQASQHLVVLTGGRSTSDVSTYGSILKGSRVNCIGIGAENADSRQLIQIATSSDDVLQVPSFPNLPNIQNKFIARLSGSIVVEPPIEIDETTPGLPQAKAADIVFLVDGSINLGRNNFKEVMEFILNLIDLFYTERDRLQIGLAHYATDVTDVFYLNTYNNKDDIINAITRAEYKGGREIRTGSAIRHVQKTHFVKEKGSRKDEGIPQILMVVTGGRSRDDSKSAALGLKASGVRVYAVGVGDIEDELNNLGSEATTVARASTFQELSELNEQILDTLDQDVKGINLCTGVKEATRECKLDVLVGFDVSSQNIFAAQRSLETKVAAILQRIIQMQSISCNSGQAPSIQVGMLAMDSASEPVQLDFTNKYTDLLEPFKALRNRGPFVLNGATIKAYADRFKSRPSDTIKVVIHLTDGLDAQYNILKERTELMRSAGVSSFILVGLERVPRFEDAVLLEYGRGFRYTRPLRVNVMDLDYELLEELDNIAERECCSVPCKCNGPRGDRGAVGVPGQKGQSGGQGSSGHPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGYNGEKGEIGEIGLDGINGEEGTSGIAGPPGDRGNPGQRGPKGAKGQAGDAGQIGIRGDPGTPGRDNTQRGPKGDPGDAGPAGEPGVDGNKGGPGEPGRRGSDGRRGPPGQAGAAGRPGSDGLAGEPGIGGSRGPAGPIGAPGVRGEDGNPGPRGPGGQPGPAGEKGRRGAVGRKGEPGEPGPKGVTGPFGPRGEPGEDGRDGFGFPGPKGRKGDEGFPGFPGPKGEAGDPGTNGGPGPRGNNGQRGTSGVRGGPGQKGDIGYPGPYGLKGPRGLGAVQCDLVKKIRDNCPCCYGAQECPLYPTEMAFALDASDGVSRGAFNNMRDTVLRLLSDITIAESNCPRGARVALALYNNEVTTEIRFADTQKKRALVERVQGLQALQTRKQRSLETAMNFVAQNTFKRVRSGFLVRKVAVFFVNGPASVTQEFSAAALRLYDAGISSVFLLNREDRQLTRALQLNNTALAQIIVLPSPGSAEYNNVIKKIMTCHICLDFCAPDQICDYIPPRGVRDRRDPTTDLDIDMAFILDSSESTWPSVFTEIKQYVALMTEQLVMSPEPTSTSHHARVALVQHAPYEYLHNSSGIPISVAFGLTDHKSPHSVRSFLEDKVHQLEGGRALASALEGTVEHVFEKAPHPRHLKVLVLLVTGPVELYEDRIVRAATEVKCKGYFIVVMAVGKLFSTGDVRVLAQVASEPSDVFFKRVDRPSGFYDDHIQTFARLLPKYLGLENAFYLSPEVSKKCQWYQSDQPHKAPFSLPQVEEKQQKHYGQQEVHDRQHKENSMEELHLVNVTSSGFSLQWLSGDSKATHEVTVTRLKDHSLVLRKNVTGSHLSISELEAAQTYHVVVNTHNVNGHVASTYKGIVPTKSAHMKPLTLNDVMGVVPTAPLSKSEAKSTEQKTLNASDKVGMMPTVPLSNPETKSEDKTVLAPSEVIVPSAPLSRPEIKAAEQKVLGPSEVIGIVSSAPLSKPELMAEHSSSAVLPPAPAPAPVNTLLEPCSLDFDTGLPCKDYQAKWYFDRKNGFCTQFWYGGCGGNDNRFETESDCLKRCMKTVAEQRAADEHIKAVLPPAPAPASLHVTVDICKLPKEEGSCAKFVLKWHYDPLSGNCTRFWYGGCGGNQNRFDTQDECEKACGKAAPVKQGIMASVKT", "length": 12825 }, "evidence": [ { "id": "RGD:1308704", "url": "https://alliancegenome.org/gene/RGD:1308704#orthology", "database": "AGR" }, { "id": "HGNC:2213", "url": "https://alliancegenome.org/gene/HGNC:2213#orthology", "database": "AGR" }, { "id": "MGI:88461", "url": "https://alliancegenome.org/gene/MGI:88461#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070501-8", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070501-8#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "P12111-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT", "length": 3177 }, "evidence": [ { "id": "RGD:1308704", "url": "https://alliancegenome.org/gene/RGD:1308704#orthology", "database": "AGR" }, { "id": "HGNC:2213", "url": "https://alliancegenome.org/gene/HGNC:2213#orthology", "database": "AGR" }, { "id": "MGI:88461", "url": "https://alliancegenome.org/gene/MGI:88461#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070501-8", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070501-8#orthology", "database": "AGR" }, { "id": "A0A087WS16", "url": "https://omabrowser.org/oma/group/A0A087WS16/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "collagen type VI trimer", "id": "GO:0005589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005589", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "A0A087WS16", "url": "https://www.uniprot.org/uniprotkb/A0A087WS16" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 111, "end_pos": 113, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1469, "end_pos": 1471, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1948, "end_pos": 1950, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2067, "end_pos": 2069, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2253, "end_pos": 2255, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2546, "end_pos": 2548, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.agr", "label": "AGR Homologs" } ], "sequence_features": { "n_linked_sites": [ 111, 518, 1469, 1948, 2076, 2253, 2546, 2555 ], "o_linked_sites": [ 495 ], "snv_sites": [ 1220, 2279 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 111, "end_pos": 113 }, { "start_pos": 1469, "end_pos": 1471 }, { "start_pos": 1948, "end_pos": 1950 }, { "start_pos": 2067, "end_pos": 2069 }, { "start_pos": 2253, "end_pos": 2255 }, { "start_pos": 2546, "end_pos": 2548 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 }, { "field": "n_linked_sites", "count": 8 }, { "field": "o_linked_sites", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 9 }, { "field": "exact_n_linked_sites", "count": 8 }, { "field": "exact_n_linked_glycan_sites", "count": 8 }, { "field": "exact_n_linked_glycans", "count": 6 }, { "field": "exact_o_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_sites", "count": 8 }, { "field": "o_linked_sites", "count": 1 }, { "field": 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"n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_o_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }