LongevityMap Gene
Gene details
- HGNC symbol
- PRR5
- Aliases
- PP610; PROTOR1; PROTOR-1; FLJ20185k
- Common name
- proline rich 5
- Description
- This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
- Cytogenetic Location
- 22q13.31
- UCSC Genome Browser
- View 22q13.31 on the UCSC genome browser
- OMIM
- 609406
- Ensembl
- ENSG00000186654
- UniProt/Swiss-Prot
- A0A024R4U5_HUMAN
- Entrez Gene
- 55615
- UniGene
- 102336
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- 1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
- Conclusions
- As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
- Indentifier
- PRR5
- Reference