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

    Gene ID: 7132, updated on 7-Sep-2023

    Summary

    Official Symbol
    TNFRSF1Aprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:11916
    See related
    Ensembl:ENSG00000067182 MIM:191190; AllianceGenome:HGNC:11916
    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]
    Expression
    Ubiquitous expression in small intestine (RPKM 52.0), gall bladder (RPKM 48.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TNFRSF1A in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6328771..6342076, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6338163..6351461, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6437937..6451242, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369625 Neighboring gene ATP synthase membrane subunit f pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 10601 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6390295-6390794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:6404819-6405319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6418662-6419382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6427837-6428456 Neighboring gene pleckstrin homology and RhoGEF domain containing G6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6432098-6432639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6433181-6433722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6433723-6434262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6443488-6444358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6446101-6446970 Neighboring gene uncharacterized LOC112268088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6455043-6455543 Neighboring gene RNA, 7SL, cytoplasmic 391, pseudogene Neighboring gene sodium channel epithelial 1 subunit alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TNFRSF1A PubMed
    HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors PubMed

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SCNN1A

    Clone Names

    • MGC19588

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tumor necrosis factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables tumor necrosis factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tumor necrosis factor receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables tumor necrosis factor receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aortic valve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of extracellular matrix constituent secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process involved in morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in prostaglandin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pulmonary valve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of establishment of endothelial barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of tumor necrosis factor-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tumor necrosis factor-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of tumor necrosis factor receptor superfamily complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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 type 1
    tumor necrosis factor-alpha receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001065.4NP_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, M63121
      Consensus CDS
      CCDS8542.1
      UniProtKB/Swiss-Prot
      A8K4X3, B2RDE4, B3KPQ1, B4DQB7, B4E309, B5M0B5, D3DUR1, P19438, Q9UCA4
      UniProtKB/TrEMBL
      F5H061
      Related
      ENSP00000162749.2, ENST00000162749.7
      Conserved Domains (3) 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
      cl26464
      Location:250366
      Atrophin-1; Atrophin-1 family
    2. NM_001346091.2NP_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, JN172914
      UniProtKB/Swiss-Prot
      P19438
      UniProtKB/TrEMBL
      F5H061, J9PH39
    3. NM_001346092.2NP_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
      UniProtKB/Swiss-Prot
      P19438

    RNA

    1. NR_144351.2 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
      Related
      ENST00000698340.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6328771..6342076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6338163..6351461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)