QuickView for COL9A1 (gene)

Gene Symbol:

COL9A1 Homo sapiens

Full name:

collagen type IX alpha 1 chain

Synonyms:

DJ149L1.1.2, EDM6, MED, STL4, collagen alpha-1(IX) chain, alpha-1(IX) collagen chain, cartilage-specific short collagen, collagen IX, alpha-1 polypeptide, collagen, type IX, alpha 1

Genomic Location:

Chr 6: 70982529-71069494

Description:

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 chain is essential for assembly of type IX collagen m...

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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 chain 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HNF1_01 ,  AMEF2_Q6 ,  IRF1_Q6 ,  GGGYGTGNY_UNKNOWN ,  ACCAAAG_MIR9 ,  GTGCCAA_MIR96 ,  CTTTAAR_UNKNOWN ,  YCATTAA_UNKNOWN ,  OCT1_02 ,  TTGTTT_FOXO4_01 ,  RGTTAMWNATT_HNF1_01 ,  CTTTGT_LEF1_Q2 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  AACTTT_UNKNOWN ,  YNGTTNNNATT_UNKNOWN ,  CTGRYYYNATT_UNKNOWN ,  GGGTGGRR_PAX4_03 ,  TCF11_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-29

Cytogenetic Map:

6q13

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