InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FAS

Summary

InnateDB Protein

IDBP-81675.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FAS

Protein Name

Fas (TNF receptor superfamily, member 6)

Synonyms

ALPS1A; APO-1; APT1; CD95; FAS1; FASTM; TNFRSF6;

Species

Homo sapiens

Ensembl Protein

ENSP00000349896

InnateDB Gene

IDBG-81669 (FAS)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

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.

Experimentally validated
Total	123 [view]
Protein-Protein	109 [view]
Protein-DNA	10 [view]
Protein-RNA	3 [view]
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0004872	receptor activity
GO:0004888	transmembrane signaling receptor activity
GO:0005515	protein binding
GO:0019900	kinase binding
GO:0042802	identical protein binding

Biological Process

GO:0006461	protein complex assembly
GO:0006915	apoptotic process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007165	signal transduction
GO:0042981	regulation of apoptotic process
GO:0043065	positive regulation of apoptotic process
GO:0071260	cellular response to mechanical stimulus
GO:0071455	cellular response to hyperoxia
GO:0097190	apoptotic signaling pathway
GO:0097191	extrinsic apoptotic signaling pathway
GO:0097527	necroptotic signaling pathway
GO:2001239	regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0016021	integral component of membrane
GO:0031264	death-inducing signaling complex
GO:0031265	CD95 death-inducing signaling complex
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome