Species Human Entrez 7132 | Human Mouse Ensembl ENSG00000067182 | |
 | ||
Aliases TNFRSF1A, 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 External IDs MGI: 1314884 HomoloGene: 828 GeneCards: TNFRSF1A | ||
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).
Contents
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.
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. Impaired receptor clearance is thought to be a mechanism of the disease.
Mutations in the TNFRSF1A gene is associated with elevated risk of multiple sclerosis.
Serum levels of TNFRSF1A are elevated in schizophrenia and bipolar disorder, and high levels are associated with more severe psychotic symptoms.
High serum levels is also associated with cognitive impairment and dementia.
Interactions
TNFRSF1A has been shown to interact with: