[ { "uniprot_canonical_ac": "P12107-1", "uniprot_ac": "P12107", "uniprot_id": "COBA1_HUMAN", "mass": { "chemical_mass": 181065.0, "monoisotopic_mass": 181065.0 }, "refseq": { "ac": "NP_001177638", "name": "collagen alpha-1(XI) chain isoform E preproprotein", "summary": "This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" }, "gene_names": [ { "name": "COL11A1", "type": "recommended", "evidence": [ { "id": "P12107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12107" } ] }, { "name": "CO11A1", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "COL11A1", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "COLL6", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" }, { "id": "P12107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12107" } ] }, { "name": "DFNA37", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "STL2", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] } ], "protein_names": [ { "name": "Collagen alpha-1(XI) chain", "type": "recommended", "evidence": [ { "id": "P12107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#names_and_taxonomy" } ] }, { "name": "collagen XI, alpha-1 polypeptide", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "collagen alpha-1(XI) chain isoform E preproprotein", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "collagen alpha-1(XI) chain", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "collagen, type XI, alpha 1", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] }, { "name": "deafness, autosomal dominant 37", "type": "synonym", "evidence": [ { "id": "NP_001177638", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] } ], "function": [ { "annotation": "Analysis of cancer-associated fibroblasts related genes identifies COL11A1 associated with lung adenocarcinoma prognosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" }, { "database": "PubMed", "id": "38649961", "url": "https://glygen.org/publication/PubMed/38649961" } ] }, { "annotation": "Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" }, { "database": "PubMed", "id": "38277211", "url": "https://glygen.org/publication/PubMed/38277211" } ] }, { "annotation": "May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107#function" } ] }, { "annotation": "Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.", "evidence": [ { "database": "RefSeq", "id": "NP_001177638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" }, { "database": "PubMed", "id": "38299479", "url": "https://glygen.org/publication/PubMed/38299479" } ] }, { "annotation": "This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001177638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638" } ] } ], "disease": [ { "disease_id": "DOID:0060465", "recommended_name": { "id": "DOID:0060465", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060465", "name": "fibrochondrogenesis", "description": "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen." }, "synonyms": [ { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis 1", "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "COL11A1 fibrochondrogenesis", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis 1", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis caused by mutation in COL11A1", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis type 1", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "FBCG1", "description": "" }, { "id": "MIM:228520", "resource": "MIM", "url": "https://www.omim.org/entry/228520", "name": "Fibrochondrogenesis 1", "description": "Fibrochondrogenesis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "228520", "database": "MIM", "url": "https://www.omim.org/entry/228520" } ] }, { "disease_id": "DOID:0070601", "recommended_name": { "id": "DOID:0070601", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070601", "name": "autosomal dominant nonsyndromic deafness 37", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1." }, "synonyms": [ { "id": "DOID:0070601", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070601", "name": "DFNA37", "description": "" }, { "id": "DOID:0070601", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070601", "name": "autosomal dominant deafness 37", "description": "" }, { "id": "MONDO:0032802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032802", "name": "hearing loss, autosomal dominant 37", "description": "" }, { "id": "MONDO:0032802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032802", "name": "DEAFNESS, AUTOSOMAL DOMINANT 37", "description": "" }, { "id": "MONDO:0032802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032802", "name": "DFNA37", "description": "" }, { "id": "MONDO:0032802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032802", "name": "deafness, autosomal dominant 37", "description": "" }, { "id": "MIM:618533", "resource": "MIM", "url": "https://www.omim.org/entry/618533", "name": "Deafness, autosomal dominant, 37", "description": "Deafness, autosomal dominant, 37" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070601", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070601" } ] }, { "disease_id": "DOID:0080046", "recommended_name": { "id": "DOID:0080046", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080046", "name": "Stickler syndrome", "description": "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems." }, "synonyms": [ { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "STL1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, type I", "description": "" }, { "id": "MIM:108300", "resource": "MIM", "url": "https://www.omim.org/entry/108300", "name": "Stickler syndrome 1", "description": "Stickler syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080046" } ] }, { "disease_id": "DOID:0080672", "recommended_name": { "id": "DOID:0080672", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080672", "name": "fibrochondrogenesis 1", "description": "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21." }, "synonyms": [ { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis 1", "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "COL11A1 fibrochondrogenesis", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis 1", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis caused by mutation in COL11A1", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "fibrochondrogenesis type 1", "description": "" }, { "id": "MONDO:0009226", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009226", "name": "FBCG1", "description": "" }, { "id": "MIM:228520", "resource": "MIM", "url": "https://www.omim.org/entry/228520", "name": "Fibrochondrogenesis 1", "description": "Fibrochondrogenesis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080672" } ] }, { "disease_id": "DOID:0080675", "recommended_name": { "id": "DOID:0080675", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080675", "name": "Stickler syndrome 2", "description": "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21." }, "synonyms": [ { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "Stickler syndrome type 2", "description": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "COL11A1 Stickler syndrome", "description": "" }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "Stickler syndrome caused by mutation in COL11A1", "description": "" }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "Stickler syndrome type II", "description": "" }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "STICKLER syndrome, type II", "description": "" }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "STL 2", "description": "" }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "STL2", "description": "" }, { "id": "MONDO:0011493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011493", "name": "Stickler syndrome, type 2", "description": "" }, { "id": "MIM:604841", "resource": "MIM", "url": "https://www.omim.org/entry/604841", "name": "Stickler syndrome 2", "description": "Stickler syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080675" } ] }, { "disease_id": "DOID:0081060", "recommended_name": { "id": "DOID:0081060", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081060", "name": "X-linked nephrogenic diabetes insipidus", "description": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28." }, "synonyms": [ { "id": "DOID:0081060", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081060", "name": "nephrogenic diabetes insipidus type 1", "description": "" }, { "id": "MONDO:0010581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010581", "name": "diabetes insipidus, nephrogenic, X-linked", "description": "" }, { "id": "MONDO:0010581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010581", "name": "diabetes insipidus, nephrogenic, 1, X-linked recessive", "description": "" }, { "id": "MONDO:0010581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010581", "name": "diabetes insipidus, nephrogenic, X-linked", "description": "" }, { "id": "MIM:304800", "resource": "MIM", "url": "https://www.omim.org/entry/304800", "name": "Diabetes insipidus, nephrogenic, 1, X-linked", "description": "Diabetes insipidus, nephrogenic, 1, X-linked" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081060" }, { "id": "0081060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081060" } ] }, { "disease_id": "DOID:0111510", "recommended_name": { "id": "DOID:0111510", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111510", "name": "Marshall syndrome", "description": "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome." }, "synonyms": [ { "id": "DOID:0111510", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111510", "name": "MRSHS", "description": "" }, { "id": "DOID:0111510", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111510", "name": "deafness, myopia, cataract, saddle nose-Marshall type", "description": "" }, { "id": "MONDO:0007949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007949", "name": "Marshall syndrome", "description": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." }, { "id": "MONDO:0007949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007949", "name": "Marshall syndrome", "description": "" }, { "id": "MONDO:0007949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007949", "name": "MRSHS", "description": "" }, { "id": "MONDO:0007949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007949", "name": "deafness, myopia, cataract, saddle nose-Marshall type", "description": "" }, { "id": "MIM:154780", "resource": "MIM", "url": "https://www.omim.org/entry/154780", "name": "Marshall syndrome", "description": "Marshall syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111510" } ] }, { "disease_id": "DOID:0112121", "recommended_name": { "id": "DOID:0112121", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112121", "name": "nephrogenic syndrome of inappropriate antidiuresis", "description": "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28." }, "synonyms": [ { "id": "DOID:0112121", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112121", "name": "NSIAD", "description": "" }, { "id": "MONDO:0010356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010356", "name": "nephrogenic syndrome of inappropriate antidiuresis", "description": "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." }, { "id": "MONDO:0010356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010356", "name": "NSIAD", "description": "" }, { "id": "MONDO:0010356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010356", "name": "nephrogenic syndrome of inappropriate antidiuresis", "description": "" }, { "id": "MONDO:0010356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010356", "name": "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive", "description": "" }, { "id": "MIM:300539", "resource": "MIM", "url": "https://www.omim.org/entry/300539", "name": "Nephrogenic syndrome of inappropriate antidiuresis", "description": "Nephrogenic syndrome of inappropriate antidiuresis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0112121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112121" }, { "id": "0112121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112121" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "unlinked_id_list": [ "DOID:13731", "DOID:11130" ], "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:12387", "recommended_name": { "id": "DOID:12387", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ] }, { "disease_id": "DOID:5199", "recommended_name": { "id": "DOID:5199", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "52.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "48.13", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "46.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "62.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "53.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "50.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "32.79", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "50.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000060718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000060718" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12107" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-9925563", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9925563", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_001177638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177638", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "A0A0U1RRA7", "url": "https://www.uniprot.org/uniprotkb/A0A0U1RRA7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RRA7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0U1RRA7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4I5", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y4I5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4I5-1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y4I5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4M5", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y4M5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4M5-1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y4M5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y5N4", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y5N4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y5N4-1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8Y5N4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YDU3", "url": "https://www.uniprot.org/uniprotkb/A0A2R8YDU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YDU3-1", "url": "https://www.uniprot.org/uniprotkb/A0A2R8YDU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMN2", "url": "https://www.uniprot.org/uniprotkb/C9JMN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMN2-1", "url": "https://www.uniprot.org/uniprotkb/C9JMN2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C381", "url": "https://www.uniprot.org/uniprotkb/H7C381", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C381-1", "url": "https://www.uniprot.org/uniprotkb/H7C381-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12107-1", "url": "https://www.uniprot.org/uniprotkb/P12107-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12107-2", "url": "https://www.uniprot.org/uniprotkb/P12107-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12107-3", "url": "https://www.uniprot.org/uniprotkb/P12107-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12107-4", "url": "https://www.uniprot.org/uniprotkb/P12107-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG", "length": 1806, "header": "sp|P12107-1|COBA1_HUMAN Isoform 1 of Collagen alpha-1(XI) chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=4 CANONICAL=P12107-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RRA7-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#A0A0U1RRA7-1", "sequence": { "sequence": "XPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKDFRCHWFHWIPWVSRCQWRERCTGSSWQTRPSGSAWSNGSSRFKRCKRSHWETWAKGHFRWRWPSWPSR", "length": 694, "header": "tr|A0A0U1RRA7-1|A0A0U1RRA7_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=1 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103031213, "end_pos": 102978714, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635193.1", "url": "https://www.ensembl.org/id/ENST00000635193.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489428.1", "url": "https://www.ensembl.org/id/ENSP00000489428.1" } ] } }, { "isoform_ac": "A0A2R8Y4I5-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#A0A2R8Y4I5-1", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKVSYSVVLVKPGEHVCFSNLRQV", "length": 736, "header": "tr|A0A2R8Y4I5-1|A0A2R8Y4I5_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=1 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 103001859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644186.1", "url": "https://www.ensembl.org/id/ENST00000644186.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493821.1", "url": "https://www.ensembl.org/id/ENSP00000493821.1" } ] } }, { "isoform_ac": "A0A2R8Y4M5-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#A0A2R8Y4M5-1", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKMCCNLSFGILIPLQK", "length": 729, "header": "tr|A0A2R8Y4M5-1|A0A2R8Y4M5_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=1 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 103001157, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645458.1", "url": "https://www.ensembl.org/id/ENST00000645458.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494179.1", "url": "https://www.ensembl.org/id/ENSP00000494179.1" } ] } }, { "isoform_ac": "A0A2R8Y5N4-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#A0A2R8Y5N4-1", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKVSFSFSLFYKKVIKFACDKRFVGRHDERKVVKLSLPLYLIYE", "length": 756, "header": "tr|A0A2R8Y5N4-1|A0A2R8Y5N4_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=1 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 103001506, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647280.1", "url": "https://www.ensembl.org/id/ENST00000647280.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494583.1", "url": "https://www.ensembl.org/id/ENSP00000494583.1" } ] } }, { "isoform_ac": "A0A2R8YDU3-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#A0A2R8YDU3-1", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEKKKSNFKKKMRTVATKSKEKSKKFTPPKSEKFSSKKKKSYQASAKAKLGVKANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKMCCNLSFGILIPLQK", "length": 780, "header": "tr|A0A2R8YDU3-1|A0A2R8YDU3_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=1 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 103001157, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461720.6", "url": "https://www.ensembl.org/id/ENST00000461720.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000494909.1", "url": "https://www.ensembl.org/id/ENSP00000494909.1" } ] } }, { "isoform_ac": "C9JMN2-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#C9JMN2-1", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEKKKSNFKKKMRTVATKSKEKSKKFTPPKSEKFSSKKKKSYQASAKAKLGVKANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGD", "length": 569, "header": "tr|C9JMN2-1|C9JMN2_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=8 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 103008475, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427239.5", "url": "https://www.ensembl.org/id/ENST00000427239.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408640.1", "url": "https://www.ensembl.org/id/ENSP00000408640.1" } ] } }, { "isoform_ac": "H7C381-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#H7C381-1", "sequence": { "sequence": "YRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEVRSTRPEKVFVFQ", "length": 200, "header": "tr|H7C381-1|H7C381_HUMAN Computationally mapped isoform of Collagen type XI alpha 1 chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=1 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103082859, "end_pos": 103031077, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447608.1", "url": "https://www.ensembl.org/id/ENST00000447608.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000410177.1", "url": "https://www.ensembl.org/id/ENSP00000410177.1" } ] } }, { "isoform_ac": "P12107-1", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#P12107-1", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG", "length": 1806, "header": "sp|P12107-1|COBA1_HUMAN Isoform 1 of Collagen alpha-1(XI) chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=4 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 102878022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370096.9", "url": "https://www.ensembl.org/id/ENST00000370096.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000359114.3", "url": "https://www.ensembl.org/id/ENSP00000359114.3" } ] } }, { "isoform_ac": "P12107-2", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#P12107-2", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEKKKSNFKKKMRTVATKSKEKSKKFTPPKSEKFSSKKKKSYQASAKAKLGVKANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG", "length": 1818, "header": "sp|P12107-2|COBA1_HUMAN Isoform 2 of Collagen alpha-1(XI) chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=4 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 102878022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358392.6", "url": "https://www.ensembl.org/id/ENST00000358392.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000351163.2", "url": "https://www.ensembl.org/id/ENSP00000351163.2" } ] } }, { "isoform_ac": "P12107-3", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#P12107-3", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG", "length": 1767, "header": "sp|P12107-3|COBA1_HUMAN Isoform 3 of Collagen alpha-1(XI) chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=4 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 102878022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000353414.8", "url": "https://www.ensembl.org/id/ENST00000353414.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000302551.6", "url": "https://www.ensembl.org/id/ENSP00000302551.6" } ] } }, { "isoform_ac": "P12107-4", "url": "https://www.uniprot.org/uniprotkb/P12107/entry#P12107-4", "sequence": { "sequence": "MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG", "length": 1690, "header": "sp|P12107-4|COBA1_HUMAN Isoform 4 of Collagen alpha-1(XI) chain OS=Homo sapiens OX=9606 GN=COL11A1 PE=1 SV=4 CANONICAL=P12107-1" }, "locus": { "chromosome": "1", "start_pos": 103108178, "end_pos": 102878022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512756.5", "url": "https://www.ensembl.org/id/ENST00000512756.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426533.1", "url": "https://www.ensembl.org/id/ENSP00000426533.1" } ] } } ], "glycosylation": [ { "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": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1058, "start_aa": "Ser", "end_pos": 1058, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1058", "evidence": [ { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P12107", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12107" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ], "filter_code": "00000000000000010000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01000" }, { "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": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1478, "start_aa": "Thr", "end_pos": 1478, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1478", "evidence": [ { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P12107", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12107" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ], "filter_code": "00000000000000001000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01001" }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1640, "start_aa": "Asn", "end_pos": 1640, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1640", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1130", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1130" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.111111100011111110.00010.01001" }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VYCNFTSGGETCIYPDKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1640, "start_aa": "Asn", "end_pos": 1640, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1640", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" }, { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.111111110111111110.00010.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1640, "start_aa": "Asn", "end_pos": 1640, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1640", "evidence": [ { "id": "P12107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12107#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.00.01001" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 289, "start_aa": "Thr", "end_pos": 289, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr289", "evidence": [ { "id": "GLY_001151", 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"length": 1814 }, "evidence": [ { "id": "HGNC:2186", "url": "https://alliancegenome.org/gene/HGNC:2186#orthology", "database": "AGR" }, { "id": "RGD:2372", "url": "https://alliancegenome.org/gene/RGD:2372#orthology", "database": "AGR" }, { "id": "MGI:88446", "url": "https://alliancegenome.org/gene/MGI:88446#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070209-167", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070209-167#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0AAA9SUH9-1", "protein_name": "Collagen type XI alpha 1 chain", "gene_name": "COL11A1", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MERWSSRWKTKRWLWDFTITTLALTFLFQAREVRGADPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFSGGTFPEDFSILFTIKPQKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLYEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSEKAIVDTNGIMVFGTRILDEEVFEGDIQQLLIIGDPKAAYDYCEHYSPDCDSSAPEAAQAQEPQVDEYAPEDIMEYDYEYGEAEYKEAESVTETPTVTEETIAQTEANIVDDFQEYNYGTESYQTEAPRSVSGSNEPNPVEEVFTEEYLTGEDYDSQRKNSEDMLYENKQIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPTNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLIEGPPGPAGPAGLMGPPGLQGPTGPPGDPGERGPPGRPGLPGADGLPGPPGTMLVLPFRYGGDSSKGPTVSAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGEMGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGEDGIRGEDGEIGPRGLPGEAGPRGLLGPRGTPGPIGQPGIAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGSLGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQVGPRGEDGPEGPKGRAGPTGDPGPPGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGVSGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSIGSVGGVGEKGEPGEAGNPGPPGEAGTGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPLGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPIGPPGPPGLPGPQGPKGTKGSTGPAGQKGDSGLPGPPGPPGPPGEVIQPLPILSPKKTRRHAESTQADAGDNILDYNDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDIEGNSINMVQMTFLKLLTASARQNFTYYCHQSVAWYDMSSGSYDKALRFLGSNDEEMSYDNNPYIKALFDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG", "length": 1805 }, "evidence": [ { "id": "P12107", "url": "https://omabrowser.org/oma/group/P12107/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "P20909-1", "protein_name": "Collagen alpha-1(XI) chain", "gene_name": "Col11a1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEPWSRWKTKRWIWDLTISTLVLTFLFQAREVRGAAPVDILKALDFHNSPVGISKTTGFCTSRKNSKDPDIAYRVTEEAQISAPTKQLFPGGIFPQDFSILFTIKPKKGTQAFLLSLYNEHGIQQLGVEVGRSPVFLFEDHTGKPTPENYPLFSTVNIADGKWHRVAISVEKKTVTMIVDCKKKITKPLDRSERSIVDTNGIMVFGTRILETDVFQGDIQQFLITGDPKAAYDYCDHYSPDCDLTSKAAQAQEPHIDEYAPEDIIEYDYEYGETDYKEAESVTEMPTVTEETVAQTEANIVDDFQDYNYGTMETYQTESPRRVSGSNEPNPVEEGFTEEYLTGEDYDVQRNISEDILYGNKGIDGRDSDLLVDGDLGEYDFYEYKEYEERTTTSPNEEFGPGVPAETDFTETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGLMGPPGLQGPSGLPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSAGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGSKGDRGFDGLPGLPGDKGHRGERGPQGPPGLPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGPPGQPGIGGIDGPQGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQVGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGIAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPAGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGTPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGIRGFPGERGLPGAQGAPGLKGGEGPQGPQGPIGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEAGPRGQQGMFGQKGDEGARGFPGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSIGSVGGVGEKGEPGEAGNPGPPGEAGSGGPKGERGEKGEAGPPGAAGPPGIKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGASGSEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPSGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPLGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPIGPPGPPGLPGPAGPKGNKGSSGPTGQKGDSGMPGPPGPPGPPGEVIQPLPILSPKKTRRHTESIQADAGDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTAGGETCIYPDKKSEGVRLSSWPKEKPGSWYSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYNCHQSTAWYDVLSGSYDKALRFLGSNDEEMSYENNPHIKALYDGCASRKGYEKTVIEINTPKIDQVPIIDVMINDFGDQNQKFGFEVGPACFLG", "length": 1804 }, "evidence": [ { "id": "HGNC:2186", "url": "https://alliancegenome.org/gene/HGNC:2186#orthology", "database": "AGR" }, { "id": "RGD:2372", "url": "https://alliancegenome.org/gene/RGD:2372#orthology", "database": "AGR" }, { "id": "MGI:88446", "url": "https://alliancegenome.org/gene/MGI:88446#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070209-167", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070209-167#orthology", "database": "AGR" }, { "id": "P12107", "url": "https://omabrowser.org/oma/group/P12107/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61245-1", "protein_name": "Collagen alpha-1(XI) chain", "gene_name": "Col11a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEPWSRWKTKRWIWDLTISTLALTFLFQAREVRGAAPVDILKALDFHNSPVGISKTTGFCTNRKNSKDPDVAYRVTEEAQISAPTKQLFPGGIFPQDFSILFTIKPKKGTQAFLLSLYNEHGIQQLGVEVGRSPVFLFEDHTGKPTPENYPLFSTVNIADGKWHRVAISVEKKTVTMIVDCKKKITKPLDRSERSIVDTNGIMVFGTRILETDVFQGDIQQFLITGDPKAAYDYCDHYSPDCDLTSKAAQAQEPHIDEYAPEDIIEYDYEYGETDYKEAESVTEMPTFTEETVAQTEANIVDDFQDYNYGTMEPYQTETPRRVSGSNEPNPVEEGFTEEYLTGEDYDVQRNTSEDILYGNKGVDGRDSDLLVDGDLGEYDFYEYKEYEERTTTSPNEEFGPGVPAETDFTETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGLMGPPGLQGPSGLPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSAGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGESGSKGDRGFDGLPGLPGDKGHRGERGPQGPPGLPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGPPGQPGIGGIDGPQGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQVGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGIAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPAGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGIRGFPGERGLPGAQGAPGLKGGEGPQGPQGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGLPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSIGSVGVVGDKGEPGEAGNPGPPGEAGSGGLKGERGEKGEAGPPGAAGPAGIKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGASGSEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPSGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPLGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPIGPPGPPGLPGPAGPKGNKGSSGPTGQKGDSGMPGPPGPPGPPGEVIQPLPILSPKKTRRHTESIQGDAGDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTAGGETCIYPDKKSEGVRISSWPKEKPGSWYSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYNCHQSAAWYDVLSGSYDKALRFLGSNDEEMSYENNPHIKALYDGCASRKGYEKTVIEINTPKIDQVPIIDVMINDFGDQNQKFGFEVGPACFLG", "length": 1804 }, "evidence": [ { "id": "HGNC:2186", "url": "https://alliancegenome.org/gene/HGNC:2186#orthology", "database": "AGR" }, { "id": "RGD:2372", "url": "https://alliancegenome.org/gene/RGD:2372#orthology", "database": "AGR" }, { "id": "MGI:88446", "url": "https://alliancegenome.org/gene/MGI:88446#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070209-167", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070209-167#orthology", "database": "AGR" }, { "id": "P12107", "url": "https://omabrowser.org/oma/group/P12107/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "collagen type XI trimer", "id": "GO:0005592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005592", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "collagen type II trimer", "id": "GO:0005585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005585", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P12107", "url": "https://www.uniprot.org/uniprotkb/P12107" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "collagen alpha-1(XI) chain O-glycosylated 1 (human)", "definition": "A collagen alpha-1(XI) chain (human) that has been O-glycosylated at the residue equivalent to Thr-508 of the amino acid sequence represented by UniProtKB:P12107-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12107-1, Thr-508, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054954", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000054954" } ] } ], "site_annotation": [ { "start_pos": 1640, "end_pos": 1642, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1709, "end_pos": 1711, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "AF-P12107-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 1806, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-P12107-F1.pdb", "url_external": "https://alphafold.ebi.ac.uk/entry/P12107" } ], "lectin_list": [], "domain_list": [ { "evidence": [ { "id": "P12107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12107" }, { "id": "PRU00793", "database": "PROSITE", "url": 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