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

    Gene ID: 355, updated on 20-May-2012

    Summary

    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]

    Genomic context

    Location :
    10q24.1
    Sequence :
    Chromosome: 10; NC_000010.10 (90750288..90775542)

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene STAM binding protein-like 1 Neighboring gene uncharacterized LOC100132116 Neighboring gene actin, alpha 2, smooth muscle, aorta Neighboring gene FAS antisense RNA 1 (non-protein coding) Neighboring gene microRNA 4679-2 Neighboring gene microRNA 4679-1 Neighboring gene zinc finger RNA binding protein pseudogene

    Genomic regions, transcripts, and products

    Bibliography

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

    Phenotypes

    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

    Autoimmune lymphoproliferative syndrome, type IA

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by: 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 ( / -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 / -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

    Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.

    Squamous cell carcinoma, burn scar-related, somatic

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env CD45 modulates HIV-1 gp120-induced apoptosis by regulating Fas ligand induction and activation of the phosphoinositide 3-kinase/Akt pathway 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 downmodulation and apoptosis induction 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 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-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 At high concentrations, HIV-1 gp120 enhances expression of Fas and FasL and promotes apoptosis in human mesangial cells (HMC) 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 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
    Envelope surface glycoprotein gp160, precursor env The calmodulin-binding domains in HIV-1 gp160 are involved in Fas-mediated apoptosis PubMed
    Nef 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
    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
    Tat 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
    Vpu 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

    Interactions

    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:106889 ARHGDIA    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:107106 BID    BioGRID  PubMed Co-purification 
    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:114364 CFLAR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106851 BioGRID:107790 CRMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:107985 DAXX    BioGRID  PubMed Reconstituted Complex 
    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 
    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:115420 HIPK3    BioGRID  PubMed Affinity Capture-Western 
    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:111585 MAPK8    BioGRID  PubMed Co-purification 
    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:106880 RHOA    BioGRID  PubMed Co-purification 
    BioGRID:106851 BioGRID:114274 RIPK1    BioGRID  PubMed Two-hybrid 
    BioGRID:106851 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex; 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:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106851 BioGRID:113177 UBE2I    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Activation of Pro-Caspase 8, organism-specific biosystem (from REACTOME)
      Activation of Pro-Caspase 8, organism-specific biosystemPro-caspase-8 is known to be activated by various factors in response to a variety of external and internal stimuli. These include FAS, TRAIL, and TNF.
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • African trypanosomiasis, organism-specific biosystem (from KEGG)
      African trypanosomiasis, organism-specific biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
    • African trypanosomiasis, conserved biosystem (from KEGG)
      African trypanosomiasis, conserved biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
    • Allograft rejection, organism-specific biosystem (from KEGG)
      Allograft rejection, organism-specific biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Allograft rejection, conserved biosystem (from KEGG)
      Allograft rejection, conserved biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis Modulation by HSP70, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation by HSP70, organism-specific biosystem
      Apoptosis Modulation by HSP70
    • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
      Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Caspase-8 is formed from procaspase-8, organism-specific biosystem (from REACTOME)
      Caspase-8 is formed from procaspase-8, organism-specific biosystemCaspase-8 is formed from the precursor protein pro-Caspase-8 as a cleavage product.
    • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
      Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Extrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
      Extrinsic Pathway for Apoptosis, organism-specific biosystemKnown as the "death receptor pathway" the extrinsic or caspase 8/10 dependent pathway is activated by ligand binding. The "death receptors" are specialized cell-surface receptors including Fas/CD95, ...
    • FAS (CD95) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      FAS (CD95) signaling pathway, organism-specific biosystem
      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
    • 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 ...
    • 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
    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    tumor necrosis factor-activated 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 of pro-apoptotic gene products TAS
    Traceable Author Statement
    more info
     
    activation-induced cell death of T cells IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    anti-apoptosis TAS
    Traceable Author Statement
    more info
    PubMed 
    apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process 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 
    dendrite regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    immune response 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 
    induction of apoptosis by extracellular signals TAS
    Traceable Author Statement
    more info
     
    induction of apoptosis via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory cell apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of B cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    negative thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    neuron apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    ovulation cycle 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 
    regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    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 cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to inorganic substance IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxin IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    transformed cell apoptosis 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
    PubMed 
    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
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    soluble fraction TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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_000043.4NP_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:53147
      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:223319
      Blast Score: 384
      Death_FAS_TNFRSF6; Death domain of FAS or TNF receptor superfamily member 6
    2. NM_152871.2NP_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
      Related
      ENSP00000349896, OTTHUMP00000020046, ENST00000357339, OTTHUMT00000049275
      Conserved Domains (2) summary
      cd00185
      Location:53147
      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:202298
      Blast Score: 383
      Death_FAS_TNFRSF6; Death domain of FAS or TNF receptor superfamily member 6
    3. NM_152872.2NP_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
      UniProtKB/TrEMBL
      Q5T9P3
      Related
      ENSP00000347426, OTTHUMP00000020051, ENST00000355279, OTTHUMT00000049280
      Conserved Domains (1) summary
      cd00185
      Location:53147
      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

      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

      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

      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

      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: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 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)

    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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    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 CAI13870.1
      CAI13871.1
      CAI13872.1
    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
    Q59FU8 GenPept UniProtKB/TrEMBL:Q59FU8
    Q5T9P3 GenPept UniProtKB/TrEMBL:Q5T9P3
    Q6ICT6 GenPept UniProtKB/TrEMBL:Q6ICT6
    Q8IUB6 GenPept UniProtKB/TrEMBL:Q8IUB6
    Q8IUB7 GenPept UniProtKB/TrEMBL:Q8IUB7
    Q9UEL0 GenPept UniProtKB/TrEMBL:Q9UEL0
    Q9UET8 GenPept UniProtKB/TrEMBL:Q9UET8

      Supplemental Content

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