Tumor necrosis factor receptor 1
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| Location (UCSC) | Chr 12: 6.33 – 6.34 Mb | Chr 6: 125.33 – 125.34 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
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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
Function
The protein encoded by this gene is a member of the
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
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000067182 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030341 – Ensembl, May 2017
- ^ "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.
- PMID 1655358.
- S2CID 36187863.
- ISBN 9783540389163.
- ^ "Entrez Gene: TNFRSF1A tumor necrosis factor receptor superfamily, member 1A".
- S2CID 40665495.
- PMID 21552549.
- PMID 19839997.
- PMID 23403415.
- S2CID 34595960.
- PMID 20930310.
- ^ PMID 9915703.
- PMID 11909948.
- ^ PMID 15659383.
- PMID 9045686.
- ^ S2CID 13171355.
- PMID 10755617.
- PMID 11002417.
- ^ PMID 9510175.
- PMID 11801527.
- PMID 9038203.
- S2CID 21442471.
- PMID 9126987.
- ^ PMID 8612133.
- PMID 11002422.
- S2CID 4317538.
- ^ PMID 18939944.
- S2CID 3955385.
- PMID 18621737.
- PMID 10187798.
- PMID 8906799.
- ^ PMID 8943045.
- PMID 10187805.
- S2CID 19984057.
- PMID 14585990.
- S2CID 11683986.
- S2CID 11551587.
- S2CID 84816080.
Further reading
- Rath PC, Aggarwal BB (2000). "TNF-induced signaling in apoptosis". J. Clin. Immunol. 19 (6): 350–64. S2CID 23194856.
- Chen G, Goeddel DV (2002). "TNF-R1 signaling: a beautiful pathway". Science. 296 (5573): 1634–5. S2CID 25321662.
- Kollias G, 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. S2CID 35803989.
- Rezaei N (2007). "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". Clin. Rheumatol. 25 (6): 773–7. S2CID 41808394.
External links
- TNFRSF1A+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Overview of all the structural information available in the PDB for UniProt: P19438 (Tumor necrosis factor receptor superfamily member 1A) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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