Tag | Content |
---|---|
UniProt Accession | TNR6_HUMAN; P25445; |
Entrez ID | 355 |
GenBank Protein ID | NM_000043.5; NM_001320619.1; NM_152871.3; NM_152872.3; |
GenBank Nucleotide ID | NP_000034.1; NP_001307548.1; NP_690610.1; NP_690611.1; |
Protein Name | Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95) |
Gene Name | FAS; APT1; FAS1; TNFRSF6 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | 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). |
Sequence (Fasta) | MLGIWTLLPL VLTSVARLSS KSVNAQVTDI NSKGLELRKT VTTVETQNLE GLHHDGQFCH 60 KPCPPGERKA RDCTVNGDEP DCVPCQEGKE YTDKAHFSSK CRRCRLCDEG HGLEVEINCT 120 RTQNTKCRCK PNFFCNSTVC EHCDPCTKCE HGIIKECTLT SNTKCKEEGS RSNLGWLCLL 180 LLPIPLIVWV KRKEVQKTCR KHRKENQGSH ESPTLNPETV AINLSDVDLS KYITTIAGVM 240 TLSQVKGFVR KNGVNEAKID EIKNDNVQDT AEQKVQLLRN WHQLHGKKEA YDTLIKDLKK 300 ANLCTLAEKI QTIILKDITS DSENSNFRNE IQSLV 336 |
|
Database | Annotation |
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Cancer Gene Census | TGCT, nasal NK/T lymphoma, skin squamous cell carcinoma-burn scar related |
CTD (Curated) (count: 25) (view all) | MESH:D055371
; Acute Lung Injury MESH:D001327 ; Autoimmune Diseases MESH:D056735 ; Autoimmune Lymphoproliferative Syndrome MESH:D009202 ; Cardiomyopathies MESH:D002311 ; Cardiomyopathy, Dilated MESH:D003921 ; Diabetes Mellitus, Experimental |
DisGeNet (Curated) (count: 114) (view all) | C0000737; Abdominal Pain
C0002880; Autoimmune hemolytic anemia C0003635; Apraxias C0003862; Arthralgia C0003864; Arthritis C0004364; Autoimmune Diseases |
HGMD (count: 73) (view all) | CP995123; Autoimmune lymphoproliferative syndrome; Complex rearrangements
CD994528; Autoimmune lymphoproliferative syndrome; Small deletions CD951863; Autoimmune lymphoproliferative syndrome; Small deletions CD991897; Autoimmune lymphoproliferative syndrome; Small deletions CD951864; Autoimmune lymphoproliferative syndrome; Small deletions CD991896; Canale-Smith syndrome; Small deletions |
GWASdb (count: 12) (view all) | rs7097572; Lymphocyte counts; asthma|leukemia|lymphoma|lymphopenia|cardiovascular system disease
rs9658691; Total IFN-gamma response to smallpox vaccine; smallpox rs2147420; Chronic lymphocytic leukemia; chronic lymphocytic leukemia rs4406737; Chronic lymphocytic leukemia; chronic lymphocytic leukemia rs7069750; Oligoarticular juvenile idiopathic arthritis; juvenile rheumatoid arthritis rs7069750; Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; juvenile rheumatoid arthritis |
PTM | Modification Sites |
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Phosphorylation (count: 18) (view all) | 198 KRKEVQKTCRKHRKE dbPAF
209 HRKENQGSHESPTLN dbPAF 212 ENQGSHESPTLNPET dbPAF 214 QGSHESPTLNPETVA dbPAF 219 SPTLNPETVAINLSD dbPAF 225 ETVAINLSDVDLSKY dbPAF |
Acetylation (count: 1) | 299 DTLIKDLKKANLCTL PLMD |
Ubiquitination (count: 4) | 263 EAKIDEIKNDNVQDT PLMD
288 WHQLHGKKEAYDTLI PLMD 309 NLCTLAEKIQTIILK PLMD 316 KIQTIILKDITSDSE PLMD |
Glycation (count: 1) | 193 LIVWVKRKEVQKTCR PLMD |
Malonylation (count: 2) | 299 DTLIKDLKKANLCTL PLMD
300 TLIKDLKKANLCTLA PLMD |