InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL5A1

Summary

InnateDB Gene

IDBG-91757.6

Last Modified

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

Gene Symbol

COL5A1

Gene Name

collagen, type V, alpha 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000130635

Encoded Proteins

IDBP-91761

collagen, type V, alpha 1

IDBP-91763

collagen, type V, alpha 1

IDBP-813582

collagen, type V, alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:134641774-134844843

Strand

Forward strand

Band

q34.3

Transcripts

ENST00000371820	ENSP00000360885
ENST00000371817	ENSP00000360882
ENST00000464187
ENST00000469093
ENST00000463925
ENST00000460264
ENST00000465877
ENST00000618395	ENSP00000481360

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 5 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0008201	heparin binding
GO:0043394	proteoglycan binding
GO:0046872	metal ion binding
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001568	blood vessel development
GO:0003007	heart morphogenesis
GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0016477	cell migration
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0032964	collagen biosynthetic process
GO:0035313	wound healing, spreading of epidermal cells
GO:0035989	tendon development
GO:0043206	extracellular fibril organization
GO:0043588	skin development
GO:0045112	integrin biosynthetic process
GO:0048592	eye morphogenesis
GO:0051128	regulation of cellular component organization

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005588	collagen type V
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome