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Protein: TNR1A_HUMAN

Tumor necrosis factor receptor superfamily member 1A

FUNCTION: 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. more...

SUBUNIT: Binding of TNF to the extracellular domain leads to homotrimerization. The aggregated death domains provide a novel molecular interface that interacts specifically with the death domain of TRADD. Various TRADD-interacting proteins such as TRAFS, RIPK1 and possibly FADD, are recruited to the complex by their association with TRADD. This complex activates at least two distinct signaling cascades, apoptosis and NF-kappa-B signaling. Interacts with BAG4, BRE, FEM1B, GRB2, SQSTM1 and TRPC4AP. Interacts with HCV core protein.

SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Secreted.

ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P19438-1; Sequence=Displayed; Name=2; IsoId=P19438-2; Sequence=VSP_037153; Note=No experimental confirmation available; Name=3; IsoId=P19438-3; Sequence=VSP_037154; Note=No experimental confirmation available;

DOMAIN: The domain that induces A-SMASE is probably identical to the death domain. The N-SMASE activation domain (NSD) is both necessary and sufficient for activation of N-SMASE.

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

PTM: The soluble form is produced from the membrane form by proteolytic processing.

DISEASE: 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 a hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases.

SIMILARITY: Contains 1 death domain.

SIMILARITY: Contains 4 TNFR-Cys repeats. WEB RESOURCE: Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/disease_menu.php?n=2"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF1A"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tnfrsf1a/";

GENE SYNONYMS: TNFAR TNFR1.

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • TNFRSF1A

Synonyms:

  • TNFR-I
  • p60
  • Tumor necrosis factor receptor type I
  • TNF-R1
  • Tumor necrosis factor receptor 1
  • TBPI
  • Tumor necrosis factor receptor superfamily member 1A, membrane form
  • CD120a
  • Tumor necrosis factor-binding protein 1
  • p55
  • TNF-RI

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