{ "uniprot_canonical_ac": "P08121-1", "uniprot_ac": "P08121", "uniprot_id": "CO3A1_MOUSE", "mass": { "chemical_mass": 138943.0, "monoisotopic_mass": 138943.0 }, "refseq": { "ac": "NP_034060", "name": "collagen alpha-1(III) chain preproprotein", "summary": "This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named 'tight skin 2' exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060" }, "gene_names": [ { "name": "Col3a1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08121", "id": "P08121" }, { "name": "Col3a-1; Tsk-2; Tsk2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060", "id": "NP_034060" }, { "name": "Col3a1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060", "id": "NP_034060" } ], "protein_names": [ { "name": "Collagen alpha-1(III) chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08121" }, { "name": "collagen alpha-1(III) chain preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060", "id": "NP_034060" }, { "name": "collagen alpha-1(III) chain; procollagen, type III, alpha 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060", "id": "NP_034060" } ], "function": [ { "annotation": "Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121#function" }, { "database": "PubMed", "id": "21768377", "url": "https://glygen.org/publication/PubMed/21768377" } ] }, { "annotation": "This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named 'tight skin 2' exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_034060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060" } ] } ], "disease": [ { "disease_id": "DOID:0050827", "recommended_name": { "id": "DOID:0050827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords." }, "synonyms": [ { "id": "DOID:0050827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050827", "name": "rheumatic carditis", "description": "" } ], "evidence": [ { "id": "0050827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ] }, { "disease_id": "DOID:0050851", "recommended_name": { "id": "DOID:0050851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." }, "synonyms": [], "evidence": [ { "id": "0050851", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ] }, { "disease_id": "DOID:13359", "recommended_name": { "id": "DOID:13359", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules." }, "synonyms": [ { "id": "DOID:13359", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13359", "name": "Cutis hyperelastica", "description": "" }, { "id": "DOID:13359", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13359", "name": "elastic skin", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDS I", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDSCL1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type I", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "type I Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:130000", "resource": "MIM", "url": "https://www.omim.org/entry/130000", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Ehlers-Danlos syndrome, classic type, 1" } ], "evidence": [ { "id": "13359", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ] }, { "disease_id": "DOID:13948", "recommended_name": { "id": "DOID:13948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13948", "name": "bladder neck obstruction", "description": "" }, "synonyms": [ { "id": "DOID:13948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13948", "name": "Obstruction of bladder neck or vesicourethral orifice", "description": "" } ], "evidence": [ { "id": "13948", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ] }, { "disease_id": "DOID:14756", "recommended_name": { "id": "DOID:14756", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14756", "name": "vascular type Ehlers-Danlos syndrome", "description": "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits." }, "synonyms": [ { "id": "DOID:14756", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14756", "name": "autosomal dominant type IV Ehlers-Danlos syndrome", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "description": "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "EDS 4", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, vascular type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, type IV, autosomal dominant", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, vascular type, autosomal dominant", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "EDSVASC", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, Ecchymotic type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, arterial type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, sack-Barabas type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "autosomal dominant type IV Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:130050", "resource": "MIM", "url": "https://www.omim.org/entry/130050", "name": "Ehlers-Danlos syndrome, vascular type", "description": "Ehlers-Danlos syndrome, vascular type" } ], "evidence": [ { "id": "14756", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14756" } ] }, { "disease_id": "DOID:14757", "recommended_name": { "id": "DOID:14757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14757", "name": "Ehlers-Danlos syndrome hypermobility type", "description": "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity." }, "synonyms": [ { "id": "DOID:14757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14757", "name": "type III Ehlers-Danlos syndrome", "description": "" }, { "id": "DOID:14757", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14757", "name": "Ehlers-Danlos syndrome, type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobility type", "description": "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "BJHS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS III", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDSHMB", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome type 3 (formerly)", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobile type", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobility type", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, type III", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "HT-EDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "benign joint hypermobility syndrome", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS3 (formerly)", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "benign hypermobility syndrome", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hEDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hypermobile EDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hypermobile Ehlers-Danlos syndrome", "description": "" } ], "evidence": [ { "id": "14757", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14757" } ] }, { "disease_id": "DOID:418", "recommended_name": { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." }, "synonyms": [ { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma syndrome", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "progressive systemic sclerosis", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic sclerosis", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "Crest syndrome", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "systemic sclerosis, susceptibility to", "description": "" } ], "evidence": [ { "id": "418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:418" } ] }, { "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": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": 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"https://www.reactome.org/PathwayBrowser/#R-MMU-3000178", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-419037", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8874081", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8948216", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_034060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034060", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WPJ5", "url": "https://www.uniprot.org/uniprot/A0A087WPJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPJ5-1", "url": "https://www.uniprot.org/uniprot/A0A087WPJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPS3", "url": "https://www.uniprot.org/uniprot/A0A087WPS3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPS3-1", "url": "https://www.uniprot.org/uniprot/A0A087WPS3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08121-1", "url": "https://www.uniprot.org/uniprot/P08121-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMSFVQSGTWFLLTLLHPTLILAQQSNVDELGCSHLGQSYESRDVWKPEPCQICVCDSGSVLCDDIICDEEPLDCPNPEIPFGECCAICPQPSTPAPVLPDGHGPQGPKGDPGPPGIPGRNGDPGLPGQPGLPGPPGSPGICESCPTGGQNYSPQFDSYDVKSGVGGMGGYPGPAGPPGPPGPPGSSGHPGSPGSPGYQGPPGEPGQAGPAGPPGPPGALGPAGPAGKDGESGRPGRPGERGLPGPPGIKGPAGMPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGDNGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGSPGQRGEPGPQGHAGAQGPPGPPGNNGSPGGKGEMGPAGIPGAPGLIGARGPPGPAGTNGIPGTRGPSGEPGKNGAKGEPGARGERGEAGSPGIPGPKGEDGKDGSPGEPGANGLPGAAGERGPSGFRGPAGPNGIPGEKGPPGERGGPGPAGPRGVAGEPGRDGTPGGPGIRGMPGSPGGPGNDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGLPGPAGKNGETGPQGPPGPTGPAGDKGDSGPPGPQGLQGIPGTGGPPGENGKPGEPGPKGEVGAPGAPGGKGDSGAPGERGPPGTAGIPGARGGAGPPGPEGGKGPAGPPGPPGASGSPGLQGMPGERGGPGSPGPKGEKGEPGGAGADGVPGKDGPRGPAGPIGPPGPAGQPGDKGEGGSPGLPGIAGPRGGPGERGEHGPPGPAGFPGAPGQNGEPGAKGERGAPGEKGEGGPPGPAGPTGSSGPAGPPGPQGVKGERGSPGGPGTAGFPGGRGLPGPPGNNGNPGPPGPSGAPGKDGPPGPAGNSGSPGNPGIAGPKGDAGQPGEKGPPGAQGPPGSPGPLGIAGLTGARGLAGPPGMPGPRGSPGPQGIKGESGKPGASGHNGERGPPGPQGLPGQPGTAGEPGRDGNPGSDGQPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPSGKSGDRGETGPAGPSGAPGPAGARGAPGPQGPRGDKGETGERGSNGIKGHRGFPGNPGPPGSPGAAGHQGAIGSPGPAGPRGPVGPHGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGGAAAIAGVGGEKSGGFSPYYGDDPMDFKINTEEIMSSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKMDAIKVFCNMETGETCINASPMTVPRKHWWTDSGAEKKHVWFGESMNGGFQFSYGPPDLPEDVVDVQLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKSLKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYQTRKAMRLPIIDIAPYDIGGPDQEFGVDIGPVCFL", "length": 1464, "header": "sp|P08121-1|CO3A1_MOUSE Isoform 1 of Collagen alpha-1(III) chain OS=Mus musculus OX=10090 GN=Col3a1 PE=1 SV=4 CANONICAL=P08121-1" }, "isoforms": [ { "isoform_ac": "A0A087WPJ5-1", "url": "", "sequence": { "sequence": "PTGSSGPAGPPGPQGVKGERGSPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGGAAAIAGVGGEKSGGFSPYYGDDPMDFKINTEEIMSSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKMDAIKVFCNMETGETCINASPMTVPRKHWWTDSGAEKKHVWFGESMNGGFQFSYGPPDLPEDVVDVQLAFLRLLSSRASQNITYHCKNSIAYMD", "length": 245, "header": "tr|A0A087WPJ5-1|CO3A1_MOUSE Computationally mapped isoform of Collagen alpha-1(III) chain OS=Mus musculus OX=10090 GN=Col3a1 PE=1 SV=1 CANONICAL=P08121-1" }, "locus": { "chromosome": "1", "start_pos": 45386924, "end_pos": 45379118, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000186021.2", "url": "https://www.ensembl.org/id/ENSMUST00000186021.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139802.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139802.2" } ] } }, { "isoform_ac": "A0A087WPS3-1", "url": "", "sequence": { "sequence": "XKPGEPGPKGEVGAPGAPGGKGDSGAPGERGPPGTAGIPGARGGAGPPGPEGGKGEPGGAGADGVPGKDGPRGPAGPIGPPGPAGQPGDKGEGGSPGLPGIAGPRGGPGERGEHGPPGPAGFPGAPGQNGEPGAKGERGAPGEKGEGGPPGPAGPTGSSGPAGPPGPQGVKGERGSPGGPGTAGFPGGRGLPGPP", "length": 195, "header": "tr|A0A087WPS3-1|A0A087WPS3_MOUSE Computationally mapped isoform of Collagen, type III, alpha 1 OS=Mus musculus OX=10090 GN=Col3a1 PE=1 SV=1 CANONICAL=P08121-1" }, "locus": { "chromosome": "1", "start_pos": 45379834, "end_pos": 45374926, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000185687.2", "url": "https://www.ensembl.org/id/ENSMUST00000185687.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139894.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139894.2" } ] } }, { "isoform_ac": "P08121-1", "url": "", "sequence": { "sequence": "MMSFVQSGTWFLLTLLHPTLILAQQSNVDELGCSHLGQSYESRDVWKPEPCQICVCDSGSVLCDDIICDEEPLDCPNPEIPFGECCAICPQPSTPAPVLPDGHGPQGPKGDPGPPGIPGRNGDPGLPGQPGLPGPPGSPGICESCPTGGQNYSPQFDSYDVKSGVGGMGGYPGPAGPPGPPGPPGSSGHPGSPGSPGYQGPPGEPGQAGPAGPPGPPGALGPAGPAGKDGESGRPGRPGERGLPGPPGIKGPAGMPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGDNGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGSPGQRGEPGPQGHAGAQGPPGPPGNNGSPGGKGEMGPAGIPGAPGLIGARGPPGPAGTNGIPGTRGPSGEPGKNGAKGEPGARGERGEAGSPGIPGPKGEDGKDGSPGEPGANGLPGAAGERGPSGFRGPAGPNGIPGEKGPPGERGGPGPAGPRGVAGEPGRDGTPGGPGIRGMPGSPGGPGNDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGLPGPAGKNGETGPQGPPGPTGPAGDKGDSGPPGPQGLQGIPGTGGPPGENGKPGEPGPKGEVGAPGAPGGKGDSGAPGERGPPGTAGIPGARGGAGPPGPEGGKGPAGPPGPPGASGSPGLQGMPGERGGPGSPGPKGEKGEPGGAGADGVPGKDGPRGPAGPIGPPGPAGQPGDKGEGGSPGLPGIAGPRGGPGERGEHGPPGPAGFPGAPGQNGEPGAKGERGAPGEKGEGGPPGPAGPTGSSGPAGPPGPQGVKGERGSPGGPGTAGFPGGRGLPGPPGNNGNPGPPGPSGAPGKDGPPGPAGNSGSPGNPGIAGPKGDAGQPGEKGPPGAQGPPGSPGPLGIAGLTGARGLAGPPGMPGPRGSPGPQGIKGESGKPGASGHNGERGPPGPQGLPGQPGTAGEPGRDGNPGSDGQPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPSGKSGDRGETGPAGPSGAPGPAGARGAPGPQGPRGDKGETGERGSNGIKGHRGFPGNPGPPGSPGAAGHQGAIGSPGPAGPRGPVGPHGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGGAAAIAGVGGEKSGGFSPYYGDDPMDFKINTEEIMSSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKMDAIKVFCNMETGETCINASPMTVPRKHWWTDSGAEKKHVWFGESMNGGFQFSYGPPDLPEDVVDVQLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKSLKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYQTRKAMRLPIIDIAPYDIGGPDQEFGVDIGPVCFL", "length": 1464, "header": "sp|P08121-1|CO3A1_MOUSE Isoform 1 of Collagen alpha-1(III) chain OS=Mus musculus OX=10090 GN=Col3a1 PE=1 SV=4 CANONICAL=P08121-1" }, "locus": { "chromosome": "1", "start_pos": 45387904, "end_pos": 45350908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000087883", "url": "https://www.ensembl.org/id/ENSMUST00000087883" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000085192", "url": "https://www.ensembl.org/id/ENSMUSP00000085192" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine; alternate O-galactosylation", "start_pos": 262, "start_aa": "Lys", "end_pos": 262, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys262", "evidence": [ { "id": "P08121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08121#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Specific hybridization probes for mouse type I, II, III and IX collagen mRNAs.", "journal": "Biochim. 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"UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P08121", "url": "https://www.uniprot.org/uniprot/P08121" } ], "pmid": "" }, { "name": 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