InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FADD

Summary

InnateDB Protein

IDBP-62146.6

Last Modified

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

Gene Symbol

FADD

Protein Name

Fas (TNFRSF6)-associated via death domain

Synonyms

MORT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000301838

InnateDB Gene

IDBG-62144 (FADD)

Protein Structure

UniProt Annotation

Function

Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling. {ECO:0000269PubMed:16762833, ECO:0000269PubMed:19118384, ECO:0000269PubMed:20935634, ECO:0000269PubMed:21109225}.

Subcellular Localization

Disease Associations

Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759]: A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV). {ECO:0000269PubMed:21109225}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in a wide variety of tissues, except for peripheral blood mononuclear leukocytes.

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 19 interaction(s) predicted by orthology.

Experimentally validated
Total	123 [view]
Protein-Protein	121 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	1 [view]
DNA-RNA	0

Predicted by orthology
Total	19 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0005123	death receptor binding
GO:0005164	tumor necrosis factor receptor binding
GO:0005515	protein binding
GO:0032403	protein complex binding
GO:0032813	tumor necrosis factor receptor superfamily binding
GO:0035877	death effector domain binding
GO:0042802	identical protein binding

Biological Process

GO:0001916	positive regulation of T cell mediated cytotoxicity
GO:0002224	toll-like receptor signaling pathway
GO:0002756	MyD88-independent toll-like receptor signaling pathway
GO:0002821	positive regulation of adaptive immune response
GO:0006915	apoptotic process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007165	signal transduction
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors
GO:0016032	viral process
GO:0032729	positive regulation of interferon-gamma production
GO:0032757	positive regulation of interleukin-8 production
GO:0032760	positive regulation of tumor necrosis factor production
GO:0033077	T cell differentiation in thymus
GO:0034138	toll-like receptor 3 signaling pathway
GO:0034142	toll-like receptor 4 signaling pathway
GO:0035666	TRIF-dependent toll-like receptor signaling pathway
GO:0036462	TRAIL-activated apoptotic signaling pathway
GO:0042104	positive regulation of activated T cell proliferation
GO:0042981	regulation of apoptotic process
GO:0043029	T cell homeostasis
GO:0043065	positive regulation of apoptotic process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087	innate immune response (InnateDB)
GO:0045651	positive regulation of macrophage differentiation
GO:0045862	positive regulation of proteolysis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048535	lymph node development
GO:0048536	spleen development
GO:0048538	thymus development
GO:0051291	protein heterooligomerization
GO:0051607	defense response to virus
GO:0060340	positive regulation of type I interferon-mediated signaling pathway
GO:0060546	negative regulation of necroptotic process
GO:0070236	negative regulation of activation-induced cell death of T cells
GO:0071260	cellular response to mechanical stimulus
GO:0097049	motor neuron apoptotic process
GO:0097190	apoptotic signaling pathway
GO:0097191	extrinsic apoptotic signaling pathway
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand
GO:0097202	activation of cysteine-type endopeptidase activity
GO:0097527	necroptotic signaling pathway
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2000454	positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway
GO:2001239	regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0031264	death-inducing signaling complex
GO:0031265	CD95 death-inducing signaling complex
GO:0043005	neuron projection
GO:0043234	protein complex
GO:0044297	cell body
GO:0045121	membrane raft
GO:0097342	ripoptosome