Homo sapiens Gene: COL9A1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-92000.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | COL9A1 | ||||||||||||||||||
Gene Name | collagen, type IX, alpha 1 | ||||||||||||||||||
Synonyms | DJ149L1.1.2; EDM6; MED; STL4 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000112280 | ||||||||||||||||||
Encoded Proteins |
collagen, type IX, alpha 1
collagen, type IX, alpha 1
collagen, type IX, alpha 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
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. [provided by RefSeq, Jul 2008] 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. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 6:70215061-70303083 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q13 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Integrin cell surface interactions pathway
Signaling by PDGF pathway
Collagen biosynthesis and modifying enzymes pathway
Collagen degradation pathway
NCAM1 interactions pathway
NCAM signaling for neurite out-growth pathway
Developmental Biology pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Axon guidance pathway
Signal Transduction pathway
ECM proteoglycans pathway
Collagen formation pathway
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KEGG |
Protein digestion and absorption pathway
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INOH |
Integrin signaling pathway pathway
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PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P20849 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1297 | ||||||||||||||||||
UniGene | Hs.590892 Hs.637684 | ||||||||||||||||||
RefSeq | NM_001851 NM_078485 XM_006715331 | ||||||||||||||||||
HUGO | HGNC:2217 | ||||||||||||||||||
OMIM | 120210 | ||||||||||||||||||
CCDS | CCDS47447 CCDS4971 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF036110 AF036111 AF036112 AF036113 AF036114 AF036115 AF036116 AF036117 AF036118 AF036119 AF036120 AF036121 AF036122 AF036123 AF036124 AF036125 AF036126 AF036127 AF036128 AF036129 AF036130 AL080275 AL160262 BC015409 BC063646 M32133 M32135 M32137 X54412 X54413 | ||||||||||||||||||
GenPept | AAA53474 AAA53475 AAC33527 AAC33528 AAH15409 AAH63646 CAA38276 CAA38277 CAI19590 CAI19591 CAI42321 | ||||||||||||||||||
RNA Seq Atlas | 1297 | ||||||||||||||||||