InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TNFRSF1A

Summary

InnateDB Protein

IDBP-13809.6

Last Modified

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

Gene Symbol

TNFRSF1A

Protein Name

tumor necrosis factor receptor superfamily, member 1A

Synonyms

CD120a; FPF; MS5; p55; p55-R; p60; TBP1; TNF-R; TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR1-d2; TNFR55; TNFR60;

Species

Homo sapiens

Ensembl Protein

ENSP00000162749

InnateDB Gene

IDBG-13807 (TNFRSF1A)

Protein Structure

UniProt Annotation

Function

Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. 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. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:22801493}; Single-pass type I membrane protein {ECO:0000269PubMed:22801493}. Golgi apparatus membrane {ECO:0000269PubMed:22801493}; Single- pass type I membrane protein {ECO:0000269PubMed:22801493}. Secreted {ECO:0000269PubMed:22801493}. Note=A secreted form is produced through proteolytic processing.Isoform 4: Secreted. Note=Lacks a Golgi- retention motif, is not membrane bound and therefore is secreted.

Disease Associations

Familial hibernian fever (FHF) [MIM:142680]: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. {ECO:0000269PubMed:10199409, ECO:0000269PubMed:10902757, ECO:0000269PubMed:11443543, ECO:0000269PubMed:13130484, ECO:0000269PubMed:14610673}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multiple sclerosis 5 (MS5) [MIM:614810]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269PubMed:22801493}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An intronic mutation affecting alternative splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally truncated protein which is secreted and may function as a TNF antagonist.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 168 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.

Experimentally validated
Total	168 [view]
Protein-Protein	165 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	30 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0005031	tumor necrosis factor-activated receptor activity
GO:0005515	protein binding
GO:0032403	protein complex binding
GO:0043120	tumor necrosis factor binding

Biological Process

GO:0001666	response to hypoxia
GO:0006693	prostaglandin metabolic process
GO:0006915	apoptotic process
GO:0006952	defense response
GO:0006954	inflammatory response
GO:0007165	signal transduction
GO:0007166	cell surface receptor signaling pathway
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009611	response to wounding
GO:0010628	positive regulation of gene expression
GO:0010629	negative regulation of gene expression
GO:0016032	viral process
GO:0019221	cytokine-mediated signaling pathway
GO:0032496	response to lipopolysaccharide
GO:0032715	negative regulation of interleukin-6 production
GO:0032760	positive regulation of tumor necrosis factor production
GO:0033013	tetrapyrrole metabolic process
GO:0033160	positive regulation of protein import into nucleus, translocation
GO:0033209	tumor necrosis factor-mediated signaling pathway
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein
GO:0042742	defense response to bacterium
GO:0042981	regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043200	response to amino acid
GO:0043279	response to alkaloid
GO:0043525	positive regulation of neuron apoptotic process
GO:0045087	innate immune response (InnateDB)
GO:0045471	response to ethanol
GO:0045766	positive regulation of angiogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050728	negative regulation of inflammatory response
GO:0050729	positive regulation of inflammatory response
GO:0051291	protein heterooligomerization
GO:0071260	cellular response to mechanical stimulus
GO:0071392	cellular response to estradiol stimulus
GO:0097190	apoptotic signaling pathway

Cellular Component

GO:0000139	Golgi membrane
GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005739	mitochondrion
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0030424	axon
GO:0043234	protein complex
GO:0043235	receptor complex
GO:0045121	membrane raft
GO:0045202	synapse