LongevityMap Gene

Gene details

HGNC symbol
PROM1 
Aliases
RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061 
Common name
prominin 1 
Description
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Cytogenetic Location
4p15.32
UCSC Genome Browser
View 4p15.32 on the UCSC genome browser
OMIM
604365
Ensembl
ENSG00000007062
UniProt/Swiss-Prot
A0A0A0N0M1_HUMAN
Entrez Gene
8842
UniGene
614734
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
prom1b
Drosophila melanogaster
CG7740
Mus musculus
Prom1
Rattus norvegicus
Prom1

Studies (1)

Significant/Non-significant: 1/0

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
rs1517598
Reference