CD120a. TNF-R I (p55/p60)

H398

Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase.

Cell membrane; Single-pass type I membrane protein. Secreted.

Both the cytoplasmic membrane-proximal region and the C-terminal region containing the death domain are involved in the interaction with TRPC4AP (By similarity).

Defects in TNFRSF1A are the cause of familial hibernian fever (FHF) [MIM:142680]; also known as tumor necrosis factor receptor-associated periodic syndrome (TRAPS). FHF is an autosomal dominant disease characterized by recurrent fever abdominal pain localized tender skin lesions and myalgia.

Contains 4 TNFR-Cys repeats. Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB 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. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [1] Yu X. Wang L. Yan C. and Li X. et al. Expression and localization of tumor necrosis factor receptor 1 protein in the chorionic villi in early normal and spontaneous abortion[2] Mavri A. Bastelica D. Poggi M. Morange P. Peiretti F. Verdier M. Juhan-Vague I. and Alessi M. C. Polymorphism A36G of the tumor necrosis factor receptor 1 gene is associated with PAI-1 levels in obese women[3] van Horssen R. Rens J. A. Schipper D. Eggermont A. M. and ten Hagen T. L. EMAP-II facilitates TNF-R1 apoptotic signalling in endothelial cells and induces TRADD mobilization[4] Manki A. Nishikomori R. Nakata-Hizume M. Kunitomi T. Takei S. Urakami T. and Morishima T. Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis[5] Nomura A. Ujike H. Tanaka Y. Kishimoto M. Otani K. Morita Y. Morio A. Harano M. Inada T. Yamada M. Komiyama T. Hori T. et al. Association study of the tumor necrosis factor-alpha gene and its 1A receptor gene with methamphetamine dependence[6] Schall T. J. Lewis M. Koller K. J. Lee A. Rice G. C. Wong G. H. W. Getanaga T. Granger G. A. Lentz R. Raab H. et al. Molecular cloning and expression of a receptor for human tumor necrosis factor. [7] Loetscher H. Pan Y. -C. E. Lahm H. -W. Gentz R. Brockhaus M. Tabuchi H. Lesslauer W. Molecular cloning and expression of the human 55 kd tumor necrosis factor receptor. [8] Nophar Y. Kemper O. Brakebusch C. Engelmann H. Zwang R. Aderka D. Holtmann H. Wallach D. Soluble forms of tumor necrosis factor receptors (TNF-Rs). The cDNA for the type I TNF-R cloned using amino acid sequence data of its soluble form encodes both the cell surface and a soluble form of the receptor. [9] Himmler A. Maurer-Fogy I. Kroenke M. Scheurich P. Pfizenmaier K. Lantz M. Olsson I. Hauptmann R. Stratowa C. Adolf G. R. et al. Molecular cloning and expression of human and rat tumor necrosis factor receptor chain (p60) and its soluble derivative tumor necrosis factor-binding protein. [10] Gray P. W. Barrett K. Chantry D. Turner M. Feldman M. Cloning of human tumor necrosis factor (TNF) receptor cDNA and expression of recombinant soluble TNF-binding protein.