Tumor necrosis factor receptor 1 (TNFR1), also known astumor necrosis factor receptor superfamily member 1A (TNFRSF1A) andCD120a, is a ubiquitous membrane receptor that bindstumor necrosis factor-alpha (TNFα).[5][6][7]
The protein encoded by this gene is a member of thetumor necrosis factor receptor superfamily, which also contains TNFRSF1B. This protein is one of the major receptors for thetumor necrosis factor-alpha. This receptor can activate thetranscription factorNF-κB, mediateapoptosis, and function as a regulator ofinflammation. 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 thesignal transduction mediated by the receptor.[8]
Germline mutations of the extracellular domains of this receptor were found to be associated with the humangenetic disorder called tumor necrosis factor associated periodic syndrome (TRAPS) orperiodic 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]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Baker E, Chen LZ, Smith CA, Callen DF, Goodwin R,Sutherland GR (November 1991). "Chromosomal location of the human tumor necrosis factor receptor genes".Cytogenetics and Cell Genetics.57 (2–3):117–118.doi:10.1159/000133127.PMID1655358.
^Hope S, Melle I, Aukrust P, Steen NE, Birkenaes AB, Lorentzen S, et al. (November 2009). "Similar immune profile in bipolar disorder and schizophrenia: selective increase in soluble tumor necrosis factor receptor I and von Willebrand factor".Bipolar Disorders.11 (7):726–734.doi:10.1111/j.1399-5618.2009.00757.x.hdl:10852/34620.PMID19839997.
^Buchhave P, Zetterberg H, Blennow K, Minthon L, Janciauskiene S, Hansson O (November 2010). "Soluble TNF receptors are associated with Aβ metabolism and conversion to dementia in subjects with mild cognitive impairment".Neurobiology of Aging.31 (11):1877–1884.doi:10.1016/j.neurobiolaging.2008.10.012.PMID19070941.S2CID34595960.
^Diniz BS, Teixeira AL, Ojopi EB, Talib LL, Mendonça VA, Gattaz WF, et al. (2010). "Higher serum sTNFR1 level predicts conversion from mild cognitive impairment to Alzheimer's disease".Journal of Alzheimer's Disease.22 (4):1305–1311.doi:10.3233/JAD-2010-100921.PMID20930310.
^Miscia S, Marchisio M, Grilli A, Di Valerio V, Centurione L, Sabatino G, et al. (January 2002). "Tumor necrosis factor alpha (TNF-alpha) activates Jak1/Stat3-Stat5B signaling through TNFR-1 in human B cells".Cell Growth & Differentiation.13 (1):13–18.PMID11801527.
^Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway".Nature Cell Biology.6 (2):97–105.doi:10.1038/ncb1086.PMID14743216.S2CID11683986.
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 Reviews.13 (4–5):315–321.doi:10.1016/S1359-6101(02)00019-9.PMID12220546.
Dodé C, Cuisset L, Delpech M, Grateau G (2003). "TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis".Journal of Nephrology.16 (3):435–437.PMID12832748.
Stojanov S, McDermott MF (October 2005). "The tumour necrosis factor receptor-associated periodic syndrome: current concepts".Expert Reviews in Molecular Medicine.7 (22):1–18.doi:10.1017/S1462399405009749.PMID16216134.S2CID35803989.
Rezaei N (November 2006). "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder".Clinical Rheumatology.25 (6):773–777.doi:10.1007/s10067-005-0198-6.PMID16447098.S2CID41808394.
