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MGP000179

UniProt Annotations

Entry Information
Gene NameFas cell surface death receptor
Protein EntryTNR6_HUMAN
UniProt IDP25445
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=1; IsoId=P25445-1; Sequence=Displayed; Name=2; Synonyms=del2, D; IsoId=P25445-2; Sequence=VSP_006481, VSP_006482; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=del3, E; IsoId=P25445-3; Sequence=VSP_006483, VSP_006484; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=B; IsoId=P25445-4; Sequence=VSP_006485, VSP_006486; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=C; IsoId=P25445-5; Sequence=VSP_006487, VSP_006488; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; Synonyms=TMdel, A; IsoId=P25445-6; Sequence=VSP_006489; Name=7; Synonyms=FasExo8Del; IsoId=P25445-7; Sequence=VSP_045235, VSP_045236; Note=Dominant negative isoform, resistant to Fas-mediated apoptosis.;
DiseaseAutoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. {ECO:0000269|PubMed:10090885, ECO:0000269|PubMed:10340403, ECO:0000269|PubMed:10515860, ECO:0000269|PubMed:11418480, ECO:0000269|PubMed:17336828, ECO:0000269|PubMed:7540117, ECO:0000269|PubMed:8929361, ECO:0000269|PubMed:9028321, ECO:0000269|PubMed:9028957, ECO:0000269|PubMed:9322534, ECO:0000269|PubMed:9821419, ECO:0000269|PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainContains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.
FunctionReceptor 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). {ECO:0000269|PubMed:19118384, ECO:0000269|PubMed:7533181}.
InteractionSelf; NbExp=3; IntAct=EBI-494743, EBI-494743; P62158:CALM3; NbExp=4; IntAct=EBI-494743, EBI-397435; Q14790:CASP8; NbExp=14; IntAct=EBI-494743, EBI-78060; Q03135:CAV1; NbExp=3; IntAct=EBI-494743, EBI-603614; Q9UER7:DAXX; NbExp=3; IntAct=EBI-494743, EBI-77321; Q13158:FADD; NbExp=33; IntAct=EBI-494743, EBI-494804; P48023:FASLG; NbExp=4; IntAct=EBI-494743, EBI-495538; Q99683:MAP3K5; NbExp=2; IntAct=EBI-494743, EBI-476263; P12815:Pdcd6 (xeno); NbExp=2; IntAct=EBI-494743, EBI-309164; P29590:PML; NbExp=4; IntAct=EBI-494743, EBI-295890; Q15156:PML-RAR; NbExp=6; IntAct=EBI-494743, EBI-867256; Q12923:PTPN13; NbExp=3; IntAct=EBI-494743, EBI-355227; P12931:SRC; NbExp=2; IntAct=EBI-494743, EBI-621482;
PtmN- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:22171320}.
SimilarityContains 1 death domain. {ECO:0000255|PROSITE- ProRule:PRU00064}.
SimilarityContains 3 TNFR-Cys repeats. {ECO:0000255|PROSITE- ProRule:PRU00206}.
Subcellular LocationIsoform 1: Cell membrane; Single-pass type I membrane protein.
Subcellular LocationIsoform 2: Secreted.
Subcellular LocationIsoform 3: Secreted.
Subcellular LocationIsoform 4: Secreted.
Subcellular LocationIsoform 5: Secreted.
Subcellular LocationIsoform 6: Secreted.
SubunitBinds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD (By similarity). Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B. Interacts with FADD. {ECO:0000250, ECO:0000269|PubMed:10535980, ECO:0000269|PubMed:10542291, ECO:0000269|PubMed:15465831, ECO:0000269|PubMed:19118384, ECO:0000269|PubMed:21109225, ECO:0000269|PubMed:7538908}.
Tissue SpecificityIsoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6. {ECO:0000269|PubMed:7575433}.
Web ResourceName=Autoimmune Lymphoproliferative Syndrome Database (ALPSbase); Note=Mutations in TNFRSF6 causing ALPS type Ia; URL="http://research.nhgri.nih.gov/ALPS/alpsIa_mut.shtml";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf6/";
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