InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL6A3

Summary

InnateDB Gene

IDBG-84192.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL6A3

Gene Name

collagen, type VI, alpha 3

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000163359

Encoded Proteins

IDBP-84194

collagen, type VI, alpha 3

IDBP-84198

collagen, type VI, alpha 3

IDBP-84200

collagen, type VI, alpha 3

IDBP-246544

collagen, type VI, alpha 3

IDBP-246546

collagen, type VI, alpha 3

IDBP-292865

collagen, type VI, alpha 3

IDBP-389467

collagen, type VI, alpha 3

IDBP-479189

collagen, type VI, alpha 3

IDBP-755557

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:237324003-237414375

Strand

Reverse strand

Band

q37.3

Transcripts

ENST00000295550	ENSP00000295550
ENST00000347401	ENSP00000315609
ENST00000353578	ENSP00000315873
ENST00000392004	ENSP00000375861
ENST00000392003	ENSP00000375860
ENST00000409809	ENSP00000386844
ENST00000433762	ENSP00000389539
ENST00000473258
ENST00000491769
ENST00000472056	ENSP00000418285
ENST00000493608
ENST00000468792
ENST00000493475
ENST00000491233	ENSP00000460277

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005515	protein binding

Biological Process

GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0007517	muscle organ development
GO:0009749	response to glucose
GO:0010951	negative regulation of endopeptidase activity
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005589	collagen type VI trimer
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0042383	sarcolemma
GO:0070062	extracellular vesicular exosome