Version 5.4
| Mus musculus Gene: Col9a1 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-138425.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Col9a1 | ||||||||
| Gene Name | collagen, type IX, alpha 1 | ||||||||
| Synonyms | Col9a-1 | ||||||||
| Species | Mus musculus | ||||||||
| Ensembl Gene | ENSMUSG00000026147 | ||||||||
| Encoded Proteins |
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 does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000112280:
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 1:24177610-24252684 | ||||||||
| Strand | Forward strand | ||||||||
| Band | A5 | ||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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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 | |||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME | |||||||||
| KEGG |
Protein digestion and absorption pathway
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| INOH | |||||||||
| PID NCI | |||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| 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 | |||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | Mm.154662 Mm.374046 Mm.401820 | ||||||||
| RefSeq | NM_001290691 NM_007740 XM_006495648 XM_006495649 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS35527 CCDS69871 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| MGI ID | |||||||||
| MGI Symbol | |||||||||
| EMBL | |||||||||
| GenPept | |||||||||
| RNA Seq Atlas | |||||||||