LongevityMap Gene
Gene details
- HGNC symbol
- RB1CC1
- Aliases
- CC1; ATG17; FIP200; PPP1R131
- Common name
- RB1 inducible coiled-coil 1
- Description
- The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
- Cytogenetic Location
- 8q11.23
- UCSC Genome Browser
- View 8q11.23 on the UCSC genome browser
- OMIM
- 606837
- Ensembl
- ENSG00000023287
- UniProt/Swiss-Prot
- RBCC1_HUMAN
- Entrez Gene
- 9821
- UniGene
- 196102
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- atg-11
- Danio rerio
- RB1CC1
- Drosophila melanogaster
- Atg17
- Mus musculus
- Rb1cc1
- Rattus norvegicus
- Rb1cc1
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
- RB1CC1
- Reference