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
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 factorNF-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]
^"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". Cytogenet Cell Genet. 57 (2–3): 117–8.
doi:
10.1159/000133127.
PMID1655358.
^Miscia S, Marchisio M, Grilli A, Di Valerio V, Centurione L, Sabatino G, Garaci F, Zauli G, Bonvini E, Di Baldassarre A (2002). "Tumor necrosis factor alpha (TNF-alpha) activates Jak1/Stat3-Stat5B signaling through TNFR-1 in human B cells". Cell Growth Differ. 13 (1): 13–8.
PMID11801527.
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.
PMID12220546.
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.
PMID12832748.
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.
PMID16216134.
S2CID35803989.
Overview of all the structural information available in the
PDB for
UniProt: P19438 (Tumor necrosis factor receptor superfamily member 1A) at the
PDBe-KB.
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
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 factorNF-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]
^"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". Cytogenet Cell Genet. 57 (2–3): 117–8.
doi:
10.1159/000133127.
PMID1655358.
^Miscia S, Marchisio M, Grilli A, Di Valerio V, Centurione L, Sabatino G, Garaci F, Zauli G, Bonvini E, Di Baldassarre A (2002). "Tumor necrosis factor alpha (TNF-alpha) activates Jak1/Stat3-Stat5B signaling through TNFR-1 in human B cells". Cell Growth Differ. 13 (1): 13–8.
PMID11801527.
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.
PMID12220546.
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.
PMID12832748.
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.
PMID16216134.
S2CID35803989.
Overview of all the structural information available in the
PDB for
UniProt: P19438 (Tumor necrosis factor receptor superfamily member 1A) at the
PDBe-KB.