Tumor necrosis factor receptor 1

TNFRSF1A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTNFRSF1A, CD120a, FPF, MS5, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR1-d2, TNFR55, TNFR60, p55, p55-R, p60, tumor necrosis factor receptor superfamily member 1A, TNF receptor superfamily member 1A
External IDsOMIM: 191190; MGI: 1314884; HomoloGene: 828; GeneCards: TNFRSF1A; OMA:TNFRSF1A - orthologs
Orthologs
SpeciesHumanMouse
Entrez

7132

21937

Ensembl

ENSG00000067182

ENSMUSG00000030341

UniProt

P19438

P25118

RefSeq (mRNA)

NM_001065
NM_001346091
NM_001346092

NM_011609

RefSeq (protein)

NP_001056
NP_001333020
NP_001333021

NP_035739

Location (UCSC)Chr 12: 6.33 – 6.34 MbChr 6: 125.33 – 125.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tumor necrosis factor receptor 1 (TNFR1), also known as tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) and CD120a, is a ubiquitous membrane receptor that binds tumor necrosis factor-alpha (TNFα).[5][6][7]

Function

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The protein encoded by this gene is a member of the tumor necrosis factor receptor superfamily, which also contains TNFRSF1B. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate the transcription factor NF-κB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor.[8]

Clinical significance

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Germline mutations of the extracellular domains of this receptor were found to be associated with the human genetic disorder called tumor necrosis factor associated periodic syndrome (TRAPS) or periodic fever syndrome.[9] Impaired receptor clearance is thought to be a mechanism of the disease.

Mutations in the TNFRSF1A gene are associated with elevated risk of multiple sclerosis.[10]

Serum levels of TNFRSF1A are elevated in schizophrenia and bipolar disorder,[11] and high levels are associated with more severe psychotic symptoms.[12]

High serum levels are also associated with cognitive impairment and dementia.[13][14]

Interactions

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TNFRSF1A has been shown to interact with:

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000067182 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030341 – Ensembl, May 2017
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  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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  8. ^ "Entrez Gene: TNFRSF1A tumor necrosis factor receptor superfamily, member 1A".
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  10. ^ International Multiple Sclerosis Genetics Consortium (April 2011). "The genetic association of variants in CD6, TNFRSF1A and IRF8 to multiple sclerosis: a multicenter case-control study". PLOS ONE. 6 (4): e18813. Bibcode:2011PLoSO...618813.. doi:10.1371/journal.pone.0018813. PMC 3084233. PMID 21552549.
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Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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