FAS

Gene Information
 
Gene Symbol
FAS
 
Aliases
ALPS1A, APO-1, APT1, CD951, FASTM, TNFRSF6, FAS
 
Entrez Gene ID
355
 
Gene Name
Fas cell surface death receptor
 
Chromosomal Location
10q24.1
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006461 Biological process Protein complex assembly TAS 10875918
GO:0006916 Biological process Anti-apoptosis TAS 7510905
GO:0006917 Biological process Induction of apoptosis TAS 1375228
GO:0007165 Biological process Signal transduction TAS 9360929
GO:0008633 Biological process Activation of pro-apoptotic gene products EXP 14644197
Protein Information
 
Protein Name
APO-1 cell surface antigen, CD95 antigen, Delta Fas/APO-1/CD95, FAS 827dupA, FAS receptor variant 9, FASLG receptor, Fas (TNF receptor superfamily, member 6), Fas AMA, TNF receptor superfamily member 6, apoptosis antigen 1, apoptosis-mediating surface antigen FAS, tumor necrosis factor receptor superfamily, member 6
 
Function
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro)
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00020 TNFR_c6 TNFR/NGFR cysteine-rich region
PF00531 Death Death domain
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 15932917
   
References
 
Primary:

Serum and follicular fluid levels of soluble Fas, soluble Fas ligand and apoptosis of luteinized granulosa cells in PCOS patients undergoing IVF.

Onalan Gogsen, Selam Belgin, Baran Yusuf, Cincik Mehmet, Onalan Reside, Gunduz Ufuk, Ural Ali Ugur, Pabuccu Recai
Centrum Clinic, Ankara, Turkey. gogsenonalan@yahoo.com
Hum Reprod. 2005 Sep;20(9):2391-5. Epub 2005 Jun 2.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Soluble Fas ligand (sFasL) 
 
 
Rotterdam criteria 
Related 
 
Decreased serum levels of sFas and luteinized granulosa cell DNA fragmentation is observed in patients with PCOS undergoing IVF cycles. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25488202, PMC4354184
Changes of sFas and sFasL, oxidative stress markers in serum and follicular fluid of patients undergoing IVF. 
Clinical study 
23665441, PMC4130703
Androgen (dihydrotestosterone)-mediated regulation of food intake and obesity in female mice. 
Animal study 
22789864
Expression of apoptosis-related genes in the endometrium of polycystic ovary syndrome patients during the window of implantation. 
In vitro 
22245830, PMC3848974
Saturated fatty acid exposure induces androgen overproduction in bovine adrenal cells. 
Animal study 
22007253, PMC3189459
Follicular proinflammatory cytokines and chemokines as markers of IVF success. 
In vitro 

 

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