| 1298223 | COL9A1 | collagen type IX alpha 1 chain | This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 cha in is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] | 6 | 70215061 | 70303084 | Human | 317 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1309425 | Col9a1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN chondrocyte differentiation; bone morphogenesis (ortholog); cartilage development (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective tissue disea se (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; alpha-Zearalanol | 9 | 34081364 | 34164552 | Rat | 98 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1319762 | Col9a1 | collagen, type IX, alpha 1 | Predicted to enable carbohydrate binding activity and protein homodimerization activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within chondrocyte proliferation; growth plate cartilage development; and tissue homeostasis. Predi cted to be located in extracellular region. Predicted to be part of collagen type IX trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including genitourinary system; respiratory system; salivary gland primordium; sensory organ; and skeleton. Used to study osteoarthritis. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Orthologous to human COL9A1 (collagen type IX alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2025] | 1 | 24216670 | 24291819 | Mouse | 120 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8971258 | Col9a1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective t issue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (ortholog) | NW_004955488 | 5296895 | 5384940 | Chinchilla | 40 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11972395 | COL9A1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (inferred); protein homodimerization activity (inferred); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective t issue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (inferred); endoplasmic reticulum lumen (inferred); extracellular matrix (inferred) | 6 | 68051446 | 68138715 | Bonobo | 43 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12149953 | COL9A1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (inferred); protein homodimerization activity (inferred); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective t issue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (inferred) | 12 | 32763782 | 32847456 | Dog | 44 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12542620 | Col9a1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); protein homodimerization activity (inferred); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective tissue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (inferred); extracellular matrix (inferred); extracellular space (inferred) | NW_004936618 | 2176328 | 2260000 | Squirrel | 44 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18626570 | COL9A1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); protein homodimerization activity (inferred); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective tissue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (inferred); endoplasmic reticulum lumen (inferred); extracellular matrix (inferred) | | | | Green Monkey | 45 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 287660027 | col9a1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 13921491 | COL9A1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (inferred); protein homodimerization activity (inferred); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective t issue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (inferred) | | | | Pig | 44 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18934727 | Col9a1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective t issue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (ortholog) | | | | Naked Mole-Rat | 46 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625869899 | Col9a1 | collagen type IX alpha 1 chain | ENCODES a protein that exhibits carbohydrate binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN bone morphogenesis (ortholog); cartilage development (ortholog); chondrocyte differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH connective t issue disease (ortholog); Desbuquois dysplasia (ortholog); dilated cardiomyopathy (ortholog); FOUND IN collagen type IX trimer (ortholog) | | | | Black Rat | 40 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 287659497 | col9a1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 1318965 | COL19A1 | collagen type XIX alpha 1 chain | This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] | 6 | 69866556 | 70212468 | Human | 64 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
