| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death- inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS- mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro). SUBUNIT: 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. SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform 2: Secreted. SUBCELLULAR LOCATION: Isoform 3: Secreted. SUBCELLULAR LOCATION: Isoform 4: Secreted. SUBCELLULAR LOCATION: Isoform 5: Secreted. SUBCELLULAR LOCATION: Isoform 6: Secreted. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=6; 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; TISSUE SPECIFICITY: 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. DOMAIN: Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins. PTM: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. DISEASE: Defects in FAS are the cause of autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]; also known as Canale-Smith syndrome (CSS). ALPS is a childhood syndrome involving hemolytic anemia and thrombocytopenia with massive lymphadenopathy and splenomegaly. SIMILARITY: Contains 1 death domain. SIMILARITY: Contains 3 TNFR-Cys repeats. WEB RESOURCE: Name=Autoimmune Lymphoproliferative Syndrome Database (ALPSbase); Note=Mutations in TNFRSF6 causing ALPS type Ia; URL="http://research.nhgri.nih.gov/ALPS/alpsIa_mut.shtml"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FAS"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf6/"; GENE SYNONYMS:FAS APT1 FAS1 TNFRSF6. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 335 AA; 37732 MW; 0139942535111410 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:11920,
urn:biopax:RelationshipXref:NCBI GENE_355,
urn:biopax:RelationshipXref:REFSEQ_NP_000034,
urn:biopax:RelationshipXref:REFSEQ_NP_690610,
urn:biopax:RelationshipXref:REFSEQ_NP_690611,
urn:biopax:UnificationXref:UNIPROT_A9UJX4,
urn:biopax:UnificationXref:UNIPROT_B6VNV4,
urn:biopax:UnificationXref:UNIPROT_P25445,
urn:biopax:UnificationXref:UNIPROT_Q14292,
urn:biopax:UnificationXref:UNIPROT_Q14293,
urn:biopax:UnificationXref:UNIPROT_Q14294,
urn:biopax:UnificationXref:UNIPROT_Q14295,
urn:biopax:UnificationXref:UNIPROT_Q16652,
urn:biopax:UnificationXref:UNIPROT_Q5T9P1,
urn:biopax:UnificationXref:UNIPROT_Q5T9P2,
urn:biopax:UnificationXref:UNIPROT_Q6SSE9
|
| biopax3:displayName |
TNR6_HUMAN
|
| biopax3:name |
Apo-1 antigen,
Apoptosis-mediating surface antigen FAS,
CD95,
FAS,
FASLG receptor
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV
|
| biopax3:standardName |
Tumor necrosis factor receptor superfamily member 6
|