Format

Send to:

Choose Destination

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

Gene ID: 7132, updated on 20-Dec-2019

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
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

Genomic context

See TNFRSF1A in Genome Data Viewer
Location:
12p13.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6328771..6342076, 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 Sharpr-MPRA regulatory region 11848 Neighboring gene uncharacterized LOC112268088 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

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

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

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
PubMed 
tumor necrosis factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
tumor necrosis factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
aortic valve development ISS
Inferred from Sequence or Structural Similarity
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
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
death-inducing signaling complex assembly TAS
Traceable Author Statement
more info
 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway via death domain receptors TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extracellular matrix constituent secretion ISS
Inferred from Sequence or Structural Similarity
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 apoptotic process involved in morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
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 by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
prostaglandin metabolic process IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
pulmonary valve development ISS
Inferred from Sequence or Structural Similarity
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
 
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
PubMed 
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 region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
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 1A isoform beta
tumor necrosis factor receptor type 1
tumor necrosis factor-alpha receptor

NCBI Reference Sequences (RefSeq)

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
    P19438
    Related
    ENSP00000162749.2, ENST00000162749.6
    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
    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
    ENST00000534885.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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