LongevityMap Gene
Gene details
- HGNC symbol
- FAS
- Aliases
- APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6
- Common name
- Fas cell surface death receptor
- Description
- The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
- Cytogenetic Location
- 10q23.31
- UCSC Genome Browser
- View 10q23.31 on the UCSC genome browser
- OMIM
- 134637
- Ensembl
- ENSG00000026103
- UniProt/Swiss-Prot
- K9J972_HUMAN
- Entrez Gene
- 355
- UniGene
- 244139
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
Studies (2)
Significant/Non-significant: 1/1
Study 1
- Longevity Association
- Non-significant
- Population
- Italian (Northern)
- Study Design
- The -670 and -1377 position SNPs were examined in 50 centenarians and 86 young controls
- Conclusions
- Genotype and allele distribution for both polymorphisms were similar in controls and centenarians
- Indentifier
- FAS
- Reference
Study 2
- 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
- rs982764
- Reference