InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL6A1

Summary

InnateDB Protein

IDBP-6044.5

Last Modified

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

Gene Symbol

COL6A1

Protein Name

collagen, type VI, alpha 1

Synonyms

OPLL;

Species

Homo sapiens

Ensembl Protein

ENSP00000355180

InnateDB Gene

IDBG-6042 (COL6A1)

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:11865138, ECO:0000269PubMed:15689448, ECO:0000269PubMed:15955946, ECO:0000269PubMed:8782832}. 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, ECO:0000269PubMed:16130093}. 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 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001649	osteoblast differentiation
GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0070208	protein heterotrimerization
GO:0071230	cellular response to amino acid stimulus

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005589	collagen type VI trimer
GO:0005765	lysosomal membrane
GO:0005788	endoplasmic reticulum lumen
GO:0016020	membrane
GO:0031012	extracellular matrix
GO:0042383	sarcolemma
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome