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    TNFRSF1A TNF receptor superfamily member 1A [ Homo sapiens (human) ]

    Gene ID: 7132, updated on 23-Sep-2016
    Official Symbol
    TNFRSF1Aprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:11916
    See related
    Ensembl:ENSG00000067182 HPRD:01861; MIM:191190; Vega:OTTHUMG00000168267
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FPF; p55; p60; TBP1; TNF-R; TNFAR; TNFR1; p55-R; CD120a; TNFR55; TNFR60; TNF-R-I; TNF-R55
    Summary
    This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]
    Orthologs
    Location:
    12p13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (6328757..6342117, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6437923..6451283, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369624 Neighboring gene pleckstrin homology and RhoGEF domain containing G6 Neighboring gene uncharacterized LOC107984500 Neighboring gene sodium channel epithelial 1 alpha subunit Neighboring gene uncharacterized LOC105369626

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Multiple sclerosis, susceptibility to, 5
    MedGen: C3553728 OMIM: 614810 GeneReviews: Not available
    Compare labs
    TNF receptor-associated periodic fever syndrome (TRAPS)
    MedGen: C1275126 OMIM: 142680 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    NHGRI GWA Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    NHGRI GWA Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    NHGRI GWA Catalog
    Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef downregulates the cell surface expression of tumor necrosis factor receptor superfamily, member 1A (CD120a) PubMed
    Tat tat HIV-1 Tat upregulates the expression of tumor necrosis factor receptor superfamily, member 1A gene (TNFRSF1A; TNFR1) in mammary epithelial cells PubMed
    tat HIV-1 Tat protects tumor necrosis factor receptor p55 from TNF-alpha-induced repression and amplifies TNF-alpha activity in stably tat-transfected HeLa cells PubMed
    capsid gag Herpes simplex virus type 2-Infected monocyte-derived dendritic cells (MDDCs) produce TNF-alpha, which binds to its receptor TNF-R1 and upregulates the expression of CCR5 on cell surface, leading to enhance HIV-1 p24 release from MDDCs PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: SCNN1A

    Homology

    Clone Names

    • MGC19588

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tumor necrosis factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tumor necrosis factor-activated receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    I-kappaB kinase/NF-kappaB signaling TAS
    Traceable Author Statement
    more info
     
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    death-inducing signaling complex assembly TAS
    Traceable Author Statement
    more info
     
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extrinsic apoptotic signaling pathway via death domain receptors TAS
    Traceable Author Statement
    more info
    PubMed 
    immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of ceramide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of tyrosine phosphorylation of Stat1 protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    prostaglandin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of establishment of endothelial barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tumor necrosis factor-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    tumor necrosis factor receptor superfamily member 1A
    Names
    TNF-R1
    TNF-RI
    TNFR-I
    tumor necrosis factor binding protein 1
    tumor necrosis factor receptor 1A isoform beta
    tumor necrosis factor receptor type 1
    tumor necrosis factor-alpha receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007506.1 RefSeqGene

      Range
      4979..18339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_193

    mRNA and Protein(s)

    1. NM_001065.3NP_001056.1  tumor necrosis factor receptor superfamily member 1A isoform 1 precursor

      See identical proteins and their annotated locations for NP_001056.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK315509, BC010140, DA664652, M63121
      Consensus CDS
      CCDS8542.1
      UniProtKB/Swiss-Prot
      P19438
      Related
      ENSP00000162749, OTTHUMP00000238438, ENST00000162749, OTTHUMT00000399038
      Conserved Domains (2) summary
      cd08313
      Location:358438
      Death_TNFR1; Death domain of Tumor Necrosis Factor Receptor 1
      cd10576
      Location:44175
      TNFRSF1A; Tumor necrosis factor receptor superfamily member 1A (TNFRSF1A), also known as TNFR1
    2. NM_001346091.1NP_001333020.1  tumor necrosis factor receptor superfamily member 1A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      BC010140, DA010826, JN172914
    3. NM_001346092.1NP_001333021.1  tumor necrosis factor receptor superfamily member 1A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate translation start site compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC006057, BC010140, KF455591

    RNA

    1. NR_144351.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006057, BC010140, KF455591

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      6328757..6342117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      6437153..6450509 complement
      Download
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