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    FAS Fas (TNF receptor superfamily, member 6) [ Homo sapiens (human) ]

    Gene ID: 355, updated on 14-May-2013
    Official Symbol
    FASprovided by HGNC
    Official Full Name
    Fas (TNF receptor superfamily, member 6)provided by HGNC
    Primary source
    HGNC:11920
    Locus tag
    RP11-399O19.7
    See related
    Ensembl:ENSG00000026103; HPRD:00609; MIM:134637; Vega:OTTHUMG00000018701
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6
    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]
    Location :
    10q24.1
    Sequence :
    Chromosome: 10; NC_000010.10 (90750288..90775542)
    See FAS in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene STAM binding protein-like 1 Neighboring gene ACTA2 antisense RNA 1 Neighboring gene actin, alpha 2, smooth muscle, aorta Neighboring gene FAS antisense RNA 1 Neighboring gene microRNA 4679-2 Neighboring gene microRNA 4679-1 Neighboring gene zinc finger RNA binding protein pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. p62 sequestosome 1/light chain 3b complex confers cytoprotection on lung epithelial cells after hyperoxia. Liang X, et al. Am J Respir Cell Mol Biol, 2013 Apr. PMID 23333919.
    2. Correlated expression of Fas, NF-kappaB, and VEGF-C in infiltrating ductal carcinoma of the breast. Dai XL, et al. Eur J Gynaecol Oncol, 2012. PMID 23327061.
    3. The membrane adaptor LAT is proteolytically cleaved following Fas engagement in a tyrosine phosphorylation-dependent fashion. García-Blesa A, et al. Biochem J, 2013 Mar 15. PMID 23240581.
    4. Expression and mutation analyses of Fas, FLIP and Bcl-2 in granulosa cell tumor of ovary. Yoo NJ, et al. Tumori, 2012 Sep-Oct. PMID 23235765.
    5. Suppressors of cytokine signaling promote Fas-induced apoptosis through downregulation of NF-κB and mitochondrial Bfl-1 in leukemic T cells. Oh J, et al. J Immunol, 2012 Dec 15. PMID 23152563.

    See all (879) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the importance of Fas/FasL-mediated apoptosis in lymph node homeostasis
      Title: Fas/Fas ligand-mediated apoptosis in different cell lineages and functional compartments of human lymph nodes.
    2. Compared serum sFas and p53 protein with that of serum CA 15-3 as the most commonly used breast cancer tumor marker. Serum samples were from breast cancer patients before surgery, 2 weeks after surgery and after six cycles of FAC chemotherapy.
      Title: The clinical significance of serum soluble Fas and p53 protein in breast cancer patients: comparison with serum CA 15-3.
    3. LAT is proteolytically cleaved following Fas engagement in a tyrosine phosphorylation-dependent fashion.
      Title: The membrane adaptor LAT is proteolytically cleaved following Fas engagement in a tyrosine phosphorylation-dependent fashion.
    4. Fas and NF-B play a role in the initiation and development of breast cancer.
      Title: Correlated expression of Fas, NF-kappaB, and VEGF-C in infiltrating ductal carcinoma of the breast.
    5. findings suggest that the Fas -670A/G gene polymorphism is not associated with type 1 diabetes in the Agean region of Turkey.
      Title: Fas, Fas Ligand, and vitamin D Receptor FokI gene polymorphisms in patients with type 1 diabetes mellitus in the Aegean region of Turkey.
    6. This meta-analysis demonstrates that the FAS -670 A/G polymorphism confers susceptibility to rheumatic diseases in Asians.
      Title: Associations between the FAS -670 A/G and -1,377 G/A polymorphisms and susceptibility to autoimmune rheumatic diseases: a meta-analysis.
    7. Data indicate that Fas G670A and G1377A (G-A) was observed to be associated with a significant increase in prostate cancer (CaP) risk.
      Title: Are cell cycle and apoptosis genes associated with prostate cancer risk in North Indian population?
    8. presence of strong myoepithelial expression of Fas and simultaneous cytoplasmic and nuclear expression of FasL in epithelial cells could be suggestive as an early predictive factor or signal for onset of breast cancer
      Title: Myoepithelial expression of Fas and strong nuclear expression of FasL in epithelial cells: a marker for risk stratification of breast cancer.
    9. T-lymphocyte activation by drugs in toxic epidermal necrolysis patients may indirectly lead to FasL-mediated keratinocyte apoptosis, via a molecular bridge involving TNF-alpha, IFN-gamma, and iNOS.
      Title: TNF-α and IFN-γ are potential inducers of Fas-mediated keratinocyte apoptosis through activation of inducible nitric oxide synthase in toxic epidermal necrolysis.
    10. Myocardial Fas protein expression increased significantly in patients with dilated cardiomyopathy.
      Title: [Expression of fas protein of myocardium in dilated cardiomyopathy].
    Submit: New GeneRIF Correction See all (637)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Autoimmune lymphoproliferative syndrome

    Summary from GeneReviews: Autoimmune Lymphoproliferative Syndrome Go to GeneReviews

    Disease Characteristics
    Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age; Autoimmune disease, mostly directed toward blood cells; and Lifelong increased risk of both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with germline mutations in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then decreases without treatment in the second decade of life; however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases in many patients. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. ALPS-FAS, caused by homozygous or compound heterozygous mutations in FAS, and characterized by severe lymphoproliferation before, at, or shortly after birth, usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS mutations in selected cell populations, notably the alpha/beta double-negative T cells (alpha/beta-DNT cells), appears to be similar to ALPS-FAS resulting from germline mutations in FAS, keeping in mind that patients with somatic mutations need to be better characterized.
    Diagnosis Testing
    The diagnosis of ALPS is based on clinical findings; laboratory abnormalities, including defective in vitro tumor necrosis factor receptor superfamily member 6 (Fas)-mediated apoptosis and T cells that express the alpha/beta T-cell receptor but lack both CD4 and CD8 (so-called alpha/beta-DNT cells); and identification of mutations in genes relevant for the Fas pathway of apoptosis. Mutations in FAS (TNFRSF6) are associated with ALPS-FAS and ALPS-sFAS. Mutations in FASLG (previously known as FASL, TNFSF6) and CASP10 have been identified in a few individuals with ALPS. Molecular genetic testing of FAS, FASLG, and CASP10 is available clinically.
    Genetic Counseling
    ALPS-FAS is generally inherited in an autosomal dominant manner. Most individuals diagnosed with ALPS-FAS have a parent with a FAS mutation; the proportion of ALPS-FAS caused by either somatic mosaicism or de novo mutations is currently unknown. Each child of an individual with ALPS-FAS has a 50% chance of inheriting the FAS mutation. ALPS-FAS can also be inherited in an autosomal recessive manner, i.e., the consequence of homozygous or compound heterozygous (biallelic) FAS mutations. The parents of such an individual are likely to be heterozygotes, in which case each has one FAS mutant allele; these parents may have ALPS-related findings or may be clinically asymptomatic. Prenatal diagnosis for pregnancies at increased risk for a FAS, FASLG, or CASP10 mutation is possible if the disease-causing mutation(s) have been identified in an affected family member.
    References
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein env The calmodulin-binding domains in HIV-1 gp160 are involved in Fas-mediated apoptosis PubMed
    Envelope surface glycoprotein gp120 env At high concentrations, HIV-1 gp120 enhances expression of Fas and FasL and promotes apoptosis in human mesangial cells (HMC) PubMed
    env CXCR4-tropic and CXCR4/CCR5 dual-tropic HIV-1 gp120 induce the relocalization of cytoplasmic CD95 to the cellular plasma membrane and a 23% increase in CD95-mediated apoptosis PubMed
    env HIV-1 gp120-induced neuron apoptosis requires the upregulation of the death receptor Fas and its associated death proteins, FADD and CASP8 PubMed
    env Binding of HIV-1 gp120 to CD4 downregulates Bcl-2 protein in CD4+ T lymphocytes and facilitates Fas/Fas-ligand triggered apoptosis; addition of IL-2 rescues CD4+ T cells from CD4/gp120-induced Bcl-2 down modulation and apoptosis induction PubMed
    env CD45 modulates HIV-1 gp120-induced apoptosis by regulating Fas ligand induction and activation of the phosphoinositide 3-kinase/Akt pathway PubMed
    env HIV-1 gp120-mediated CD4 engagement is involved in the induction of susceptibility of primary human T lymphocytes to CD95-mediated apoptosis through ezrin phosphorylation and ezrin-to-CD95 association PubMed
    env Antibodies reactive to a domain within the V3 region of HIV-1 gp120 are effective cross-linkers of Fas and increase apoptosis in peripheral T cells PubMed
    env Preincubation of T cells with HIV-1 gp120 accelerates the apoptosis observed during CD2-pathway stimulation of the T cells; this process is mediated by Fas/Fas ligand interaction and related to an increased induction of Fas ligand mRNA by gp120 PubMed
    env Apoptosis induced by HIV-1 gp120/CD4 cross-linking in Th1 clones is inhibited by anti-CD95 or anti-CD95L neutralizing monoclonal antibodies, as well as by a specific interleukin-1 beta converting enzyme (ICE) inhibitor PubMed
    env HIV-1 gp120 induces CD4 association with lymphocyte surface molecules CD3, CD11a, CD27, CD45RA, CD45RB, CD45RO, CD49d, CD38, CD26, CD59, CD95 and class I MHC molecules PubMed
    Nef, p27 nef Amino acid 106 of HIV-1 Nef is important for the inhibition of Fas-mediated apoptosis resulting from the interaction of Nef with ASK1 PubMed
    nef HIV-1 Nef inhibits Fas-mediated apoptosis by binding to and inactivating the catalytic activity of ASK1, as well as through the downregulation of caspase-3 and caspase-8 PubMed
    nef In a murine model of AIDS, CD4C/HIV transgenic (Tg) mice expressing HIV-1 Nef, it has been shown that Nef upregulates expression of Fas and FasL in CD4+ and CD8+ cells from the Tg mouse PubMed
    nef HIV-1 Nef sensitizes CD4+ T lymphoid cells to apoptosis by upregulating the expression of both Fas and Fas ligand, an effect that requires the PxxP motif (amino acids 72-75) in the core region of Nef PubMed
    Tat, p14 tat HIV-1 Tat sensitizes T cells to CD95 mediated apoptosis through the upregulation of CD95 ligand and caspase 8 PubMed
    tat HIV-1 Tat activates B and T cells and upregulates expression of Fas (CD95) in these cells PubMed
    Vpr, p15 vpr Virion-associated Vpr activates caspase 3/7, 8, and 9 in Fas-mediated apoptosis in Jurkat T cells and human activated PBMCs PubMed
    Vpu, p16 vpu Increased susceptibility of HIV-infected cells to Fas killing has been mapped to the HIV-1 vpu gene PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000010.8 NP_001895.1 CTNNB1    BIND  PubMed CTNNB1 (beta-catenin) interacts with the FAS promoter. 
    NC_000010.8 KAT5    BIND  PubMed HTATIP (Tip60) interacts with the FAS promoter. 
    NC_000010.8 NP_006657.1 RUVBL2    BIND  PubMed RUVBL2 (reptin) interacts with the FAS promoter. 
    NC_000010.8 NP_003713.3 TP63    BIND  PubMed p63 interacts with CD95. 
    NP_000034.1 NP_003343.1 SUMO1    BIND  PubMed Fas interacts with sentrin. 
    P25445 Q12955 ANK3    HPRD  PubMed  
    P25445 O14727 APAF1    HPRD  PubMed  
    P25445 Q06187 BTK    HPRD  PubMed  
    P25445 Q9UKR5 C14orf1    HPRD  PubMed  
    P25445 Calmodulin 1 CALM1    HPRD  PubMed  
    P25445 Q14790 CASP8    HPRD  PubMed  
    P25445 Q9UKL3 CASP8AP2    HPRD  PubMed  
    P25445 Q08722 CD47    HPRD  PubMed  
    P25445 Q14194 CRMP1    HPRD  PubMed  
    P25445 Q9UER7 DAXX    HPRD  PubMed  
    P25445 P68104 EEF1A1    HPRD  PubMed  
    P25445 P00533 EGFR    HPRD  PubMed  
    P25445 P15311 EZR    HPRD  PubMed  
    P25445 Q13158 FADD    HPRD  PubMed  
    P25445 Q9UNN5 FAF1    HPRD  PubMed  
    P25445 Q9BWQ8 FAIM2    HPRD  PubMed  
    P25445 P25445 FAS    HPRD  PubMed  
    P25445 P48023 FASLG    HPRD  PubMed  
    P25445 Fas binding protein 1 FBF1    HPRD  PubMed  
    P25445 Q9UK73 FEM1B    HPRD  PubMed  
    P25445 P06241 FYN    HPRD  PubMed  
    P25445 Q9H422 HIPK3    HPRD  PubMed  
    P25445 P06239 LCK    HPRD  PubMed  
    P25445 Q5T3J3 LRIF1    HPRD  PubMed  
    P25445 P08581 MET    HPRD  PubMed  
    P25445 O75340 PDCD6    HPRD  PubMed  
    P25445 P17252 PRKCA    HPRD  PubMed  
    P25445 Q12923 PTPN13    HPRD  PubMed  
    P25445 P29350 PTPN6    HPRD  PubMed  
    P25445 P62834 RAP1A    HPRD  PubMed  
    P25445 Q13546 RIPK1    HPRD  PubMed  
    P25445 P63165 SUMO1    HPRD  PubMed  
    P25445 O75888 TNFSF13    HPRD  PubMed  
    P25445 Q15628 TRADD    HPRD  PubMed  
    P25445 P41226 UBA7    HPRD  PubMed  
    P25445 P63279 UBE2I    HPRD  PubMed  
    BioGRID:106851 BioGRID:125518 APOA5    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:106889 ARHGDIA    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:107016 ATP6V0B    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:113647 BAG6    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:107106 BID    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:107128 BMX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:114946 BRE    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:116332 C14orf1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:107293 CASP10    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:106851 BioGRID:107291 CASP8    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:106851 BioGRID:115315 CASP8AP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:107336 CCND3    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:114364 CFLAR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:107790 CRMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:107985 DAXX    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106851 BioGRID:108237 EEF1A1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:113271 EZR    BioGRID  PubMed Co-purification 
    NP_003815.1 FADD    BIND  PubMed An unspecified isoform of Fas interacts with FADD. 
    NP_003815.1 FADD    BIND  PubMed Fas interacts with FADD. 
    BioGRID:106851 BioGRID:114302 FADD    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Co-purification; Reconstituted Complex; Two-hybrid 
    BioGRID:106851 BioGRID:116298 FAF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106851 BioGRID:116806 FAF2    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:116659 FAIM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:106851 FAS    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:106852 FASLG    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:106851 BioGRID:124465 FBF1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:108810 FYN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:108014 GADD45A    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:115420 HIPK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:109424 HNRNPC    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:107330 KRIT1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106851 BioGRID:110124 LCK    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106851 BioGRID:120905 LRIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:110381 MAP3K5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:111585 MAPK8    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:114444 MBD4    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:110584 MSN    BioGRID  PubMed Co-purification 
    NP_003937.1 NOL3    BIND  PubMed ARC interacts with an unspecified isoform of Fas. 
    BioGRID:106851 BioGRID:114477 NOL3    BioGRID  PubMed Phenotypic Suppression 
    BioGRID:106851 BioGRID:115333 PDCD6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106851 BioGRID:111384 PML    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:123894 PRAM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:111849 RARA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:106880 RHOA    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:114274 RIPK1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106851 BioGRID:114127 TCAP    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:123510 TMX1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:112979 TNF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:114323 TNFRSF10B    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:112986 TNFRSF1A    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:114278 TNFSF13    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106851 BioGRID:114181 TP63    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106851 BioGRID:114257 TRADD    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:113039 TRAF3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106851 BioGRID:204302 Traf1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106851 BioGRID:113177 UBE2I    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106851 BioGRID:119007 UBQLN1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:204408 Ube2i    BioGRID  PubMed Two-hybrid 
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      FAS (CD95) signaling pathway
    • FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
      FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
    • FasL/ CD95L signaling, organism-specific biosystem (from REACTOME)
      FasL/ CD95L signaling, organism-specific biosystemThe Fas family of cell surface receptors initiate the apototic pathway through interaction with the external ligand, FasL. The cytoplasmic domain of Fas interacts with a number of molecules in the t...
    • Graft-versus-host disease, organism-specific biosystem (from KEGG)
      Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • Graft-versus-host disease, conserved biosystem (from KEGG)
      Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
      HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
      HIV-1 Nef: Negative effector of Fas and TNF-alpha
    • Hepatitis B, organism-specific biosystem (from KEGG)
      Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Measles, organism-specific biosystem (from KEGG)
      Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Measles, conserved biosystem (from KEGG)
      Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • TCR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TCR Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    signal transducer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    B cell mediated immunity IEA
    Inferred from Electronic Annotation
    more info
    		  
    activation of cysteine-type endopeptidase activity involved in apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    activation-induced cell death of T cells IEA
    Inferred from Electronic Annotation
    more info
    		  
    apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    cellular response to hyperoxia IMP
    Inferred from Mutant Phenotype
    more info
    		  
    cellular response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
    		  
    gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
    		  
    induction of apoptosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    inflammatory cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of B cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		  
    positive regulation of necrotic cell death IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    regulation of lymphocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    renal system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    spleen development IEA
    Inferred from Electronic Annotation
    more info
    		  
    transformed cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    CD95 death-inducing signaling complex IDA
    Inferred from Direct Assay
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    death-inducing signaling complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane raft IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    tumor necrosis factor receptor superfamily member 6
    Names
    tumor necrosis factor receptor superfamily member 6
    Fas AMA
    FAS 827dupA
    CD95 antigen
    FASLG receptor
    apoptosis antigen 1
    Delta Fas/APO-1/CD95
    APO-1 cell surface antigen
    apoptosis-mediating surface antigen FAS
    tumor necrosis factor receptor superfamily, member 6

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009089.2 RefSeqGene

      Range
      5001..30255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_134

    mRNA and Protein(s)

    1. NM_000043.4 → NP_000034.1  tumor necrosis factor receptor superfamily member 6 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK290978, BC012479, DB284727
      Consensus CDS
      CCDS7393.1
      UniProtKB/Swiss-Prot
      P25445
      Related
      ENSP00000347979, OTTHUMP00000020045, ENST00000355740, OTTHUMT00000049274
      Conserved Domains (2) summary
      cd00185
      Location:53 – 147
      Blast Score: 199
      TNFR; Tumor necrosis factor receptor (TNFR) domain; superfamily of TNF-like receptor domains. When bound to TNF-like cytokines, TNFRs trigger multiple signal transduction pathways, they are involved in inflammation response, apoptosis, autoimmunity and ...
      cd08316
      Location:223 – 319
      Blast Score: 384
      Death_FAS_TNFRSF6; Death domain of FAS or TNF receptor superfamily member 6

    2. NM_152871.2 → NP_690610.1  tumor necrosis factor receptor superfamily member 6 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as FasdeltaTM or soluble FAS, lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal region, compared to isoform 1.
      Source sequence(s)
      AK290978, BC012479, DA759225, Z47993
      Consensus CDS
      CCDS7394.1
      UniProtKB/Swiss-Prot
      P25445
      Conserved Domains (2) summary
      cd00185
      Location:53 – 147
      Blast Score: 199
      TNFR; Tumor necrosis factor receptor (TNFR) domain; superfamily of TNF-like receptor domains. When bound to TNF-like cytokines, TNFRs trigger multiple signal transduction pathways, they are involved in inflammation response, apoptosis, autoimmunity and ...
      cd08316
      Location:202 – 298
      Blast Score: 383
      Death_FAS_TNFRSF6; Death domain of FAS or TNF receptor superfamily member 6

    3. NM_152872.2 → NP_690611.1  tumor necrosis factor receptor superfamily member 6 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as FASExo8Del, lacks a coding segment, which leads to a translation frameshift, compared to variant 1. The resulting isoform (3) contains a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL157394, BC012479, DA759225, Z66556
      Consensus CDS
      CCDS7395.1
      UniProtKB/Swiss-Prot
      P25445
      Conserved Domains (1) summary
      cd00185
      Location:53 – 147
      Blast Score: 163
      TNFR; Tumor necrosis factor receptor (TNFR) domain; superfamily of TNF-like receptor domains. When bound to TNF-like cytokines, TNFRs trigger multiple signal transduction pathways, they are involved in inflammation response, apoptosis, autoimmunity and ...

    RNA

    1. NR_028033.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate coding exons compared to variant 1. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and likely is not translated.
      Source sequence(s)
      AK290978, BC012479, DA759225, Z70520

    2. NR_028034.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate coding exons compared to variant 1. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and likely is not translated.
      Source sequence(s)
      AK290978, BC012479, DA759225, Z47995

    3. NR_028035.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate coding exons compared to variant 1. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and likely is not translated.
      Source sequence(s)
      AK290978, BC012479, DA759225, Z47994

    4. NR_028036.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate coding exon compared to variant 1. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and likely is not translated.
      Source sequence(s)
      AK290978, BC012479, DA759225, Z70519

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      90750288..90775542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      84384755..84410009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      91121985..91147235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152873.1: Suppressed sequence

      Description
      NM_152873.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_152874.1: Suppressed sequence

      Description
      NM_152874.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_152875.1: Suppressed sequence

      Description
      NM_152875.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    4. NM_152876.1: Suppressed sequence

      Description
      NM_152876.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    5. NM_152877.1: Suppressed sequence

      Description
      NM_152877.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01021950.1 (47613..72867) None
    genomic AF061978.1 AAC16237.1
    genomic AJ279011.1 CAC35539.1
    genomic AJ279012.1 CAC35540.1
    genomic AJ279013.1 CAC35541.1
    genomic AJ509179.1 CAD48929.1
    genomic AJ509180.1 CAD48930.1
    genomic AJ509181.1 CAD48931.1
    genomic AJ509182.1 CAD48932.1
    genomic AL157394.15 (143849..169103) None
    genomic AMYH01002934.1 (27557..52807) None
    genomic AY450925.1 AAR08906.1
    genomic CH471066.2 EAW50147.1
      EAW50148.1
      EAW50149.1
      EAW50150.1
      EAW50151.1
      EAW50152.1
    genomic D31968.1 BAA20850.1
    mRNA AB209361.1 BAD92598.1
    mRNA AK290978.1 BAF83667.1
    mRNA AK311164.1 None
    mRNA AK311424.1 None
    mRNA AK311499.1 None
    mRNA AY495076.1 AAS76663.1
    mRNA BC012479.1 AAH12479.1
    mRNA CR450307.1 CAG29303.1
    mRNA DA759225.1 None
    mRNA DB284727.1 None
    mRNA EU481974.1 ACC91884.1
    mRNA FJ373045.1 ACP28876.1
    mRNA FJ373046.1 ACP28877.1
    mRNA FM246457.1 None
    mRNA FM246458.1 CAR92543.1
    mRNA FM246459.1 CAR92544.1
    mRNA M67454.1 AAA63174.1
    mRNA S78781.1 AAD14292.1
    mRNA X63717.1 CAA45250.1
    mRNA X83490.1 None
    mRNA X83491.1 None
    mRNA X83492.1 None
    mRNA X83493.1 None
    mRNA X89101.1 CAA61473.1
    mRNA Z47993.1 CAA88031.1
    mRNA Z47994.1 CAA88032.1
    mRNA Z47995.1 CAA88033.1
    mRNA Z66556.1 None
    mRNA Z70519.1 CAA94430.1
    mRNA Z70520.1 CAA94431.1
    other-genetic DQ894675.2 ABM85601.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P25445.1 GenPept UniProtKB/Swiss-Prot:P25445

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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