InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL6A3

Summary

InnateDB Protein

IDBP-246546.6

Last Modified

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

Gene Symbol

COL6A3

Protein Name

collagen, type VI, alpha 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000375860

InnateDB Gene

IDBG-84192 (COL6A3)

Protein Structure

UniProt Annotation

Function

Collagen VI acts as a cell-binding protein.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269PubMed:10399756, ECO:0000269PubMed:15689448, ECO:0000269PubMed:17886299, ECO:0000269PubMed:9536084}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269PubMed:15689448}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Biological Process

GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0007517	muscle organ development
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:0070062	extracellular vesicular exosome