LongevityMap Gene

Gene details

HGNC symbol
SORCS1 
Aliases
hSorCS 
Common name
sortilin related VPS10 domain containing receptor 1 
Description
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Cytogenetic Location
10q25.1
UCSC Genome Browser
View 10q25.1 on the UCSC genome browser
OMIM
606283
Ensembl
ENSG00000108018
UniProt/Swiss-Prot
A8K182_HUMAN
Entrez Gene
114815
UniGene
591915
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
CABZ01076351.1
Mus musculus
Sorcs1
Rattus norvegicus
Sorcs1

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs4918255
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Italian
    Study Design
    Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
    Conclusions
    A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
    Indentifier
    rs1556758
    Reference