Tumor necrosis factor receptor 1

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]

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
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12p13.31Start6,328,757 bp[1]
End6,342,114 bp[1]
RNA expression pattern
More reference expression data
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: 125.35 – 125.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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

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

TNFRSF1A has been shown to interact with:

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See also

References
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  2. 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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Further reading
  • Rath PC, Aggarwal BB (2000). "TNF-induced signaling in apoptosis". J. Clin. Immunol. 19 (6): 350–64. doi:10.1023/A:1020546615229. PMID 10634209.
  • Chen G, Goeddel DV (2002). "TNF-R1 signaling: a beautiful pathway". Science. 296 (5573): 1634–5. doi:10.1126/science.1071924. PMID 12040173.
  • Kollias G, Kontoyiannis D (2003). "Role of TNF/TNFR in autoimmunity: specific TNF receptor blockade may be advantageous to anti-TNF treatments". Cytokine Growth Factor Rev. 13 (4–5): 315–21. doi:10.1016/S1359-6101(02)00019-9. PMID 12220546.
  • Dodé C, Cuisset L, Delpech M, Grateau G (2003). "TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis". J. Nephrol. 16 (3): 435–7. PMID 12832748.
  • Stojanov S, McDermott MF (2007). "The tumour necrosis factor receptor-associated periodic syndrome: current concepts". Expert Reviews in Molecular Medicine. 7 (22): 1–18. doi:10.1017/S1462399405009749. PMID 16216134.
  • Rezaei N (2007). "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". Clin. Rheumatol. 25 (6): 773–7. doi:10.1007/s10067-005-0198-6. PMID 16447098.

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