Version 5.4
| Mus musculus Gene: Col6a3 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-180058.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Col6a3 | ||||||||
| Gene Name | collagen, type VI, alpha 3 | ||||||||
| Synonyms | AI507288; Col6a-3 | ||||||||
| Species | Mus musculus | ||||||||
| Ensembl Gene | ENSMUSG00000048126 | ||||||||
| Encoded Proteins |
collagen, type VI, alpha 3
collagen, type VI, alpha 3
collagen, type VI, alpha 3
collagen, type VI, alpha 3
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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 ENSG00000163359:
This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 1:90765923-90843971 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | D | ||||||||
| Transcripts | |||||||||
| 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 |
ECM-receptor interaction pathway
Focal adhesion pathway
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
Assembly of collagen fibrils and other multimeric structures 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 |
ECM-receptor interaction pathway
Focal adhesion pathway
Protein digestion and absorption pathway
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| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | D3YWD1 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 12835 | ||||||||
| UniGene | Mm.7562 | ||||||||
| RefSeq | NM_001243008 NM_001243009 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS56640 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| MGI ID | MGI:88461 | ||||||||
| MGI Symbol | Col6a3 | ||||||||
| EMBL | AC110895 AC158773 FQ976558 | ||||||||
| GenPept | |||||||||
| RNA Seq Atlas | 12835 | ||||||||