InnateDB Protein
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IDBP-482044.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FAS
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Protein Name
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Fas (TNF receptor superfamily, member 6)
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Synonyms
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ALPS1A; APO-1; APT1; CD95; FAS1; FASTM; TNFRSF6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000424113
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InnateDB Gene
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IDBG-81669 (FAS)
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Protein Structure
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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). {ECO:0000269PubMed:19118384, ECO:0000269PubMed:7533181}.
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Subcellular Localization |
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.
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Disease Associations |
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. {ECO:0000269PubMed:10090885, ECO:0000269PubMed:10340403, ECO:0000269PubMed:10515860, ECO:0000269PubMed:11418480, ECO:0000269PubMed:17336828, ECO:0000269PubMed:7540117, ECO:0000269PubMed:8929361, ECO:0000269PubMed:9028321, ECO:0000269PubMed:9028957, ECO:0000269PubMed:9322534, ECO:0000269PubMed:9821419, ECO:0000269PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:7575433}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 123 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
12 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P25445
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PhosphoSite |
PhosphoSite-P25445
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
355
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UniGene |
Hs.623093
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RefSeq |
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HUGO |
HGNC:11920
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OMIM |
134637
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CCDS |
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HPRD |
00609
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IMGT |
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EMBL |
AK290978
AL157394
AY450925
AY495076
BC012479
CH471066
FM246458
M67454
X63717
X83490
X83491
X83492
X83493
X89101
Z47993
Z47994
Z47995
Z66556
Z70519
Z70520
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GenPept |
AAA63174
AAH12479
AAR08906
AAS76663
BAF83667
CAA45250
CAA61473
CAA88031
CAA88032
CAA88033
CAA94430
CAA94431
CAI13870
CAI13871
CAI13872
CAR92543
EAW50151
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