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
In other databases
- GenAge microarray genes
- This gene is present as 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