LongevityMap variant
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
- Conclusions
- A total of 27 SNPs were identified at the intersection of various statistical procedures
- HGNC symbol
- HPCAL1
- Aliases
- BDR1; HLP2; VILIP-3
- Common name
- hippocalcin like 1
- Description
- The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]
- OMIM
- 600207
- Ensembl
- ENSG00000115756
- UniProt/Swiss-Prot
- HPCL1_HUMAN
- Entrez Gene
- 3241
- UniGene
- 580427
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- hpcal1
- Drosophila melanogaster
- Nca
- Mus musculus
- Hpcal1
- Rattus norvegicus
- Hpcal1
- Saccharomyces cerevisiae
- FRQ1
Yashin et al. (2012)
Other variants which are also part of this study
