P25445 A9UJX4 B6VNV4 Q14292 Q14293 Q14294 Q14295 Q16652 Q5T9P1 Q5T9P2 Q5T9P3 Q6SSE9 TNR6_HUMAN Tumor necrosis factor receptor superfamily member 6 Apo-1 antigen Apoptosis-mediating surface antigen FAS FASLG receptor CD95 FAS APT1 FAS1 TNFRSF6 Homo sapiens Human Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1) Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily. Sequence identity with the Fas antigen. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1) PROTEIN SEQUENCE OF 226-240; 269-291 AND 321-335 Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 6) TISSUE SPECIFICITY Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 6) FUNCTION Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling domain protects tumor cells from Fas-mediated apoptosis. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7) An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5) Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation. NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1) VARIANT ALPS1A SER-262 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5) Peripheral blood lymphocyte NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1) Complete sequencing and characterization of 21,243 full-length human cDNAs. NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1) NUCLEOTIDE SEQUENCE [GENOMIC DNA] VARIANTS THR-16; ILE-122 AND ILE-305 The DNA sequence and comparative analysis of human chromosome 10. NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1) Urinary bladder RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death. INTERACTION WITH RIPK1 F1Aalpha, a death receptor-binding protein homologous to the Caenorhabditis elegans sex-determining protein, FEM-1, is a caspase substrate that mediates apoptosis. INTERACTION WITH FEM1B LFG: an anti-apoptotic gene that provides protection from fas-mediated cell death. INTERACTION WITH FAIM2 An unappreciated role for RNA surveillance. SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S) A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway. INTERACTION WITH BRE Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS] Cervix carcinoma A quantitative atlas of mitotic phosphorylation. PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209 MASS SPECTROMETRY Cervix carcinoma Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-118 MASS SPECTROMETRY Liver Whole-exome-sequencing-based discovery of human FADD deficiency. INTERACTION WITH FADD Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS] Cervix carcinoma Initial characterization of the human central proteome. IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS] Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD. GLYCOSYLATION AT THR-28 STRUCTURE OF CARBOHYDRATES MASS SPECTROMETRY NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain. STRUCTURE BY NMR OF 218-335 The Fas-FADD death domain complex structure unravels signalling by receptor clustering. X-RAY CRYSTALLOGRAPHY (2.73 ANGSTROMS) OF 223-335 IN COMPLEX WITH FADD FUNCTION SUBUNIT SUBCELLULAR LOCATION MUTAGENESIS OF TYR-291 AND ILE-313 Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. VARIANT ALPS1A PRO-241 Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. VARIANT ALPS1A TYR-260 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. VARIANTS ALPS1A TRP-121 AND CYS-232 Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. VARIANTS ALPS1A ASP-257 AND SER-310 Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. VARIANT ALPS1A ALA-28 Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. VARIANTS NON-HODGKIN LYMPHOMA THR-25; PHE-180; LEU-183; ILE-198; VAL-260; LYS-264; LYS-272; PHE-278 AND ASN-299 The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. VARIANT ALPS1A VAL-260 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. VARIANTS ALPS1A LYS-241 AND GLN-250 Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. VARIANTS ALPS1A LEU-249; PRO-250; ASP-253; SER-253; ARG-259; LYS-270 AND LYS-272 Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease. VARIANT ALPS1A GLY-272 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270 Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar. VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255 The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272 The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. CHARACTERIZATION OF VARIANTS ALPS1A CYS-232; GLN-250; ASP-257; TYR-260; VAL-260; LYS-270 AND LYS-272 MUTAGENESIS OF ARG-250; GLU-261; GLN-283 AND LYS-287 Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro). Binds 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. false 3 P62158 false 4 Q14790 false 12 Q03135 false 3 Q9UER7 false 2 Q13158 false 30 P48023 false 3 P12815 true 2 P29590 false 4 Q15156 false 6 P12931 false 2 Isoform 1 Cell membrane Single-pass type I membrane protein Isoform 2 Secreted Isoform 3 Secreted Isoform 4 Secreted Isoform 5 Secreted Isoform 6 Secreted P25445-1 1 P25445-2 2 del2 D May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. P25445-3 3 del3 E May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. P25445-4 4 B May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. P25445-5 5 C May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. P25445-6 6 TMdel A P25445-7 7 FasExo8Del Dominant negative isoform, resistant to Fas-mediated apoptosis. Isoform 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. Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins. N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Autoimmune 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Contains 1 death domain. Contains 3 TNFR-Cys repeats. Mutations in TNFRSF6 causing ALPS type Ia 3D-structure Alternative splicing Apoptosis Cell membrane Complete proteome Direct protein sequencing Disease mutation Disulfide bond Glycoprotein Membrane Phosphoprotein Polymorphism Receptor Reference proteome Repeat Secreted Signal Transmembrane Transmembrane helix GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRR DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH GERKARDCTVNGDEPDCVPCQ DVNMESSRNAHSPATPSAKRK GLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKC DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH GLEVEINCTRTQNTKCRCKPN DVNMESSRNAHSPATPSAKRK ETV MLT A T A T T A C R N S R W T I C R L F P L I V T I Y C T K T P V L R P R Q G D G S N D A D I R D G D V D Y I S N K T I T K E G E K L F K N T I I S R E E K Q K K D Y D I D L F L P MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCH KPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCT RTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLL LLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM TLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKK ANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms Distributed under the Creative Commons Attribution-NoDerivs License