LongevityMap Gene

Gene details

HGNC symbol
COL5A1 
Aliases
EDSC 
Common name
collagen type V alpha 1 chain 
Description
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]
Cytogenetic Location
9q34.3
UCSC Genome Browser
View 9q34.3 on the UCSC genome browser
OMIM
120215
Ensembl
ENSG00000130635
UniProt/Swiss-Prot
A0A024R8E5_HUMAN
Entrez Gene
1289
UniGene
210283
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
col5a1
Mus musculus
Col5a1
Rattus norvegicus
Col5a1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
European
Study Design
Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
Conclusions
No SNP was significantly associated with mortality after correcting for multiple testing, but 14 independent SNPs were associated with time to death at a suggestive threshold
Indentifier
rs3128591
Reference