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FLASH GENE
Symbol TNFRSF1A contributors: mct/pgu - updated : 07-06-2012
HGNC name tumor necrosis factor receptor superfamily, member 1A
HGNC id 11916
Corresponding disease
TRAPS tumor necrosis receptor-associated periodic syndrome
Location 12p13.2      Physical location : 6.437.923 - 6.451.283
Synonym name
  • tumor necrosis factor receptor 1(55kDa)
  • tumor necrosis factor-alpha receptor
  • Synonym symbol(s) TNFR1, TR55, CD120A, TNFAR, TNFR60, FPF, TRAPS, TNF-R, TNF-R-I, TNF-R55, p55
    DNA
    TYPE functioning gene
    STRUCTURE 13.36 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    CD9 12p13.31 CD9 antigen (p24) FLJ10665 12p13.32 hypothetical protein FLJ10665 TNFRSF1A 12p13.2 tumor necrosis factor receptor superfamily, member 1A SCNN1A 12p13.3 sodium channel, nonvoltage-gated 1 alpha LTBR 12p13.31 lymphotoxin beta receptor (TNFR superfamily, member 3) LOC390283 12 hypothetical gene supported by X15940; NM_000993 LOC390284 12 similar to signal recognition particle 14kDa (homologous Alu RNA binding protein); signal recognition particle 14kD (homologous Alu RNA-binding protein); signal recognition particle 14kD (homologous Alu RNA binding protein) TNFRSF7 12p13 tumor necrosis factor receptor superfamily, member 7 TAPBP-R 12p13.31 TAP binding protein related VAMP1 12p13.31-p13.2 vesicle-associated membrane protein 1 (synaptobrevin 1) PKP2P1 12p13 vesicle-associated membrane protein 1 (synaptobrevin 1) MRPL51 12p13.3-p13.1 mitochondrial ribosomal protein L51 CNAP1 12p13.3 chromosome condensation-related SMC-associated protein 1 GAPD 12p13.31 glyceraldehyde-3-phosphate dehydrogenase HOM-TES-103 12p13.3 HOM-TES-103 tumor antigen-like NOL1 12p13.31 nucleolar protein 1, 120kDa CHD4 12p13 chromodomain helicase DNA binding protein 4 GPR92 12p13.32 G protein-coupled receptor 92 ACRBP 12p13.32 acrosin binding protein ING4 12p13.32 inhibitor of growth family, member 4 ZNF384 12p12 zinc finger protein 384
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2258 55 455 predominant form in serum and pulmonary epithelium fluid 2004 14745008
    exosome-associated TNFR1
    - splicing - 28 - - 2004 14745008
    cleaved ectodomain
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinelarge intestinecolon highly
    Lymphoid/Immunespleen    
    Nervousbrain    
    Reproductivefemale systemplacenta  highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion serum, pulmonary epithelium fluid
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extracytoplasmic cysteine-rich pseudorepeats typical for the TNFR superfamily
  • a preligand assembly domain (PLAD) in CRD1 mediating ligand-independent receptor assembly
  • a small cytoplasmic domain with the serine/threonine kinase
  • a DEATH domain, involved in the induction of A-Smase
  • a N-Smase activation domain (NSD) is both necessary and sufficient for activation of N-Smase
  • contains a membrane-proximal sequence that targets the receptor to caveolae/lipid rafts
  • mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to murine Tnfrsf1a (73 pc)
    Homologene
    FAMILY tumor necrosis factor receptor superfamily
    CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text release in exosome-like vesicles
    basic FUNCTION
  • involved at least in two independent pathways
  • acidic sphingomyelinase controlling expression of multiple TNF-responsive genes, including the apoptotic pathway
  • neutral sphingomyelinase critical for the inflammatory and proliferative responses induced by TNF
  • plays a key role in the initiation of inflammation, host defense, apoptosis, and cell survival through its ability to activate NFKB, mitogen-activated protein kinases, caspase-8, and other signaling responses
  • endogenous TNFRSF1B/TNFRSF1A signaling pathway in polymicrobial sepsis reduces neutrophil recruitment contributing to mortality
  • potential role as a positive T-cell costimulatory molecule that is important for timely T-cell activation and effector cytokine production and the development of primary immune responses
  • important for the development of secondary lymphoid organs during embryonic life, and is required for the formation of splenic compartments during adult, but not embryonic life
  • is predominantly associated with neurodegeneration
  • TNFRSF1A, TNFRSF1B were required for IRF1-IFNB signaling and, in human endothelial cells
  • TNFRSF1A, TNFRSF1B activities are required for the TNF-induced proinflammatory response
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component with EED recruited to the TNFRSF1A•NSMAF•RACK1-complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacted with only TRPC4AP, TRAF2, and IKBKG
  • IGFBP5 interacts with TNFRSF1A through its N- and L-domains, and L-domain of IGFBP5 is a novel TNFRSF1A ligand that functions as a competitive TNF inhibitor)
  • JNK pathway)
  • TRAF2 is critical for either TNFRSF1A- or TNFRSF1B-mediated activation of NFKB and mitogen-activated protein kinase (MAPK) signaling, as well as for target gene expression
  • cell & other
    REGULATION
    Other extracellular release regulated by RBMX associates with ERAP1 in airway epithelial and vascular endothelial cells
    ASSOCIATED DISORDERS
    corresponding disease(s) TRAPS
    related resource INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    MVK (V377I) mutation and TNFRSF1A (R92Q) mutation with phenotype resembled a mixture of variant-type HIDS and TRAPS
    constitutional     --over  
    in fulminant hepatic failure cases in relation to acute viral hepatitis cases
    Susceptibility
  • to myocardial infarction and carotid intima-media thickness
  • to systemic lupus erythematosus
  • to tuberculosis
  • to hepatocellular carcinoma
  • Variant & Polymorphism other
  • R92Q increasing the risk of atherosclerosis
  • T61I and R104Q, are associated with systemic lupus erythematosus
  • polymorphisms increasing the risk of hepatocellular carcinoma
  • Candidate gene could be a modifier gene in cystic fibrosis
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    interfering with the TNFRSF1A pathway offers the possibility to selectively block the formation of ectopic lymphoid tissue, opening a new perspective for the treatment of autoimmune and inflammatory diseases
    immunologyinflammatory 
    potential therapeutic target in fulminant hepatic failure cases in relation to acute viral hepatitis cases
    ANIMAL & CELL MODELS