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,... See more...

Aliases for TNFRSF1A Gene

Aliases for TNFRSF1A Gene

  • TNF Receptor Superfamily Member 1A 2 3 5
  • TNFAR 2 3 4
  • Tumor Necrosis Factor Receptor Superfamily Member 1A 3 4
  • TNF-R-I 2 3
  • TNF-R55 2 3
  • CD120a 2 3
  • TNFR60 2 3
  • TNF-R1 3 4
  • TNF-RI 3 4
  • TNFR-I 3 4
  • TNF-R 2 3
  • TNFR1 3 4
  • P55 3 4
  • P60 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 1A 2
  • Tumor Necrosis Factor Receptor 1A Isoform Beta 3
  • Tumor Necrosis Factor Binding Protein 1 3
  • Tumor Necrosis Factor Receptor Type 1 3
  • Tumor Necrosis Factor Receptor Type I 4
  • Tumor Necrosis Factor-Alpha Receptor 3
  • Tumor Necrosis Factor Receptor 1 4
  • CD120a Antigen 4
  • TNFRSF1A 5
  • TNFR55 3
  • P55-R 3
  • TBP1 3
  • FPF 3

External Ids for TNFRSF1A Gene

Previous HGNC Symbols for TNFRSF1A Gene

  • TNFR1

Previous GeneCards Identifiers for TNFRSF1A Gene

  • GC12M006292
  • GC12M006412
  • GC12M006308

Summaries for TNFRSF1A Gene

Entrez Gene Summary for TNFRSF1A Gene

  • 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]

GeneCards Summary for TNFRSF1A Gene

TNFRSF1A (TNF Receptor Superfamily Member 1A) is a Protein Coding gene. Diseases associated with TNFRSF1A include Periodic Fever, Familial, Autosomal Dominant and Multiple Sclerosis 5. Among its related pathways are Apoptosis Modulation and Signaling and Signal transduction_JNK pathway. Gene Ontology (GO) annotations related to this gene include tumor necrosis factor-activated receptor activity. An important paralog of this gene is TNFRSF25.

UniProtKB/Swiss-Prot Summary for TNFRSF1A Gene

  • 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.

Gene Wiki entry for TNFRSF1A Gene

Additional gene information for TNFRSF1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFRSF1A Gene

Genomics for TNFRSF1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TNFRSF1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J006331 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 610.5 +2.0 2021 16.6 CEBPG HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 TFE3 TNFRSF1A lnc-SCNN1A-1 ENSG00000219410 ENSG00000247853 ZNF384 CHD4 NOP2 NCAPD2 SCARNA12 C1RL-AS1
GH12J006940 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -611.5 -611544 25.9 ZNF221 ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 EMG1 PTPN6 MN309532 MIR200CHG C12orf57 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 SPSB2
GH12J006762 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -424.4 -424382 7.4 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 TEAD4 PRDM10 ZNF629 REST MLF2 PTMS NONHSAG010333.2 ENSG00000219410 ZNF384 CHD4 EMG1 ENSG00000247853 PTPN6 NCAPD2
GH12J006610 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -271.0 -270977 4.6 ARHGAP35 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 LEF1 IKZF1 CHD4 LOC105369631 ZNF384 ENSG00000219410 ENSG00000247853 NCAPD2 SPSB2 ENSG00000255836 TNFRSF1A EMG1
GH12J006382 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -42.2 -42159 3.5 CEBPG HNRNPL GATAD2A TFE3 LEF1 IKZF1 NFKBIZ RBFOX2 RXRB REST LTBR ZNF384 ENSG00000219410 ENSG00000247853 CHD4 TNFRSF1A SPSB2 NOP2 SCARNA12 NCAPD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNFRSF1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNFRSF1A

Top Transcription factor binding sites by QIAGEN in the TNFRSF1A gene promoter:
  • AP-1
  • CREB
  • deltaCREB
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3
  • STAT5A

Genomic Locations for TNFRSF1A Gene

Genomic Locations for TNFRSF1A Gene
chr12:6,328,757-6,342,114
(GRCh38/hg38)
Size:
13,358 bases
Orientation:
Minus strand
chr12:6,437,923-6,451,283
(GRCh37/hg19)
Size:
13,361 bases
Orientation:
Minus strand

Genomic View for TNFRSF1A Gene

Genes around TNFRSF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF1A Gene

Proteins for TNFRSF1A Gene

  • Protein details for TNFRSF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19438-TNR1A_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 1A
    Protein Accession:
    P19438
    Secondary Accessions:
    • A8K4X3
    • B2RDE4
    • B3KPQ1
    • B4DQB7
    • B4E309
    • B5M0B5
    • D3DUR1
    • Q9UCA4

    Protein attributes for TNFRSF1A Gene

    Size:
    455 amino acids
    Molecular mass:
    50495 Da
    Quaternary structure:
    • 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, BABAM2, FEM1B, GRB2, SQSTM1 and TRPC4AP (PubMed:10356400, PubMed:10359574, PubMed:10542291, PubMed:15465831, PubMed:8387891, PubMed:9915703). Interacts directly with NOL3 (via CARD domain); inhibits TNF-signaling pathway (By similarity). Interacts with SH3RF2, TRADD and RIPK1. SH3RF2 facilitates the recruitment of RIPK1 and TRADD to TNFRSF1A in a TNF-alpha-dependent process (PubMed:24130170).
    • (Microbial infection) Interacts with mumps virus protein SH; this interaction inhibits downstream NF-kappa-B pathway activation.
    • (Microbial infection) Interacts with HCV core protein.
    • (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL138.
    • (Microbial infection) Interacts with host TNFRSF1A; this interaction leads to the stimulation of both surface expression and shedding of TNFRSF1A.
    Miscellaneous:
    • [Isoform 4]: Disease-associated isoform. Isoform 4 splicing pattern is driven by a variation in the exon 6/intron 6 boundary region that alters exon 6 splicing. Exon 6 skipping introduces a frameshift and the translation of a protein lacking the intracellular, the transmembrane and part of the extracellular domain.

    Three dimensional structures from OCA and Proteopedia for TNFRSF1A Gene

    Alternative splice isoforms for TNFRSF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF1A Gene

Post-translational modifications for TNFRSF1A Gene

  • The soluble form is produced from the membrane form by proteolytic processing.
  • Glycosylation at Asn145, Asn151, and Asn54
  • Modification sites at PhosphoSitePlus

Antibody Products

Protein Products

No data available for DME Specific Peptides for TNFRSF1A Gene

Domains & Families for TNFRSF1A Gene

Gene Families for TNFRSF1A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TNFRSF1A Gene

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
  • Death domain
ProtoNet:

Suggested Antigen Peptide Sequences for TNFRSF1A Gene

GenScript: Design optimal peptide antigens:
  • Tumor necrosis factor receptor superfamily member 1A (Q6Y4Q7_HUMAN)
  • p60 (TNR1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19438

UniProtKB/Swiss-Prot:

TNR1A_HUMAN :
  • 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:
  • 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.
  • Both the cytoplasmic membrane-proximal region and the C-terminal region containing the death domain are involved in the interaction with TRPC4AP.
genes like me logo Genes that share domains with TNFRSF1A: view

Function for TNFRSF1A Gene

Molecular function for TNFRSF1A Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 1A,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

Phenotypes From GWAS Catalog for TNFRSF1A Gene

Gene Ontology (GO) - Molecular Function for TNFRSF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005031 tumor necrosis factor-activated receptor activity IEA,TAS 2158863
GO:0005515 protein binding IEA,IPI 1087798
GO:0043120 tumor necrosis factor binding IPI 9435233
genes like me logo Genes that share ontologies with TNFRSF1A: view
genes like me logo Genes that share phenotypes with TNFRSF1A: view

Human Phenotype Ontology for TNFRSF1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF1A Gene

MGI Knock Outs for TNFRSF1A:

Animal Model Products

CRISPR Products

miRNA for TNFRSF1A Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TNFRSF1A Gene

Localization for TNFRSF1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF1A Gene

Cell membrane. Single-pass type I membrane protein. Golgi apparatus membrane. Single-pass type I membrane protein. Secreted. Note=A secreted form is produced through proteolytic processing.
[Isoform 4]: Secreted. Note=Lacks a Golgi-retention motif, is not membrane bound and therefore is secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNFRSF1A gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 5
mitochondrion 4
nucleus 3
endoplasmic reticulum 3
cytosol 3
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2

Gene Ontology (GO) - Cellular Components for TNFRSF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,IDA 22801493
GO:0002947 tumor necrosis factor receptor superfamily complex TAS 24966471
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 13130484
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with TNFRSF1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNFRSF1A Gene

Pathways & Interactions for TNFRSF1A Gene

PathCards logo

SuperPathways for TNFRSF1A Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
.56
.55
.52
.42
.42
2 TNF signaling
3 Apoptosis Modulation and Signaling
.41
.35
.31
4 PEDF Induced Signaling
.51
.47
.43
5 TGF-Beta Pathway
.60
.60
.57
.51
genes like me logo Genes that share pathways with TNFRSF1A: view

Pathways by source for TNFRSF1A Gene

9 GeneGo (Thomson Reuters) pathways for TNFRSF1A Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival Apoptotic TNF-family pathways
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival TNFR1 signaling pathway
40 Qiagen pathways for TNFRSF1A Gene
  • 14-3-3 and Regulation of BAD Activity
  • 14-3-3 Induced Apoptosis
  • 14-3-3 Induced Intracellular Signaling
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
2 Cell Signaling Technology pathways for TNFRSF1A Gene

SIGNOR curated interactions for TNFRSF1A Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TNFRSF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003176 aortic valve development ISS --
GO:0003177 pulmonary valve development ISS --
GO:0003332 negative regulation of extracellular matrix constituent secretion ISS --
GO:0006693 prostaglandin metabolic process IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with TNFRSF1A: view

Drugs & Compounds for TNFRSF1A Gene

(69) Drugs for TNFRSF1A Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etanercept Approved, Investigational Pharma 454
Infliximab Approved Pharma 469
Tasonermin Approved Pharma Target, agonist 0
Adalimumab Approved Pharma 602
6-[3-(4-Morpholinyl)Propyl]-2-(3-Nitrophenyl)-5-Thioxo-5,6,-Dihydro-7h-Thienol[2',3':4,5]Pyrrolo[1,2-C]Imidazol-7-One Experimental Pharma Target 0

(47) Additional Compounds for TNFRSF1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFRSF1A: view

Transcripts for TNFRSF1A Gene

mRNA/cDNA for TNFRSF1A Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF1A

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF1A Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: - - -
SP9: - - - - - - - - - -
SP10:
SP11: -
SP12:

ExUns: 12 ^ 13 ^ 14
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for TNFRSF1A Gene

GeneLoc Exon Structure for
TNFRSF1A

Expression for TNFRSF1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNFRSF1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFRSF1A Gene

This gene is overexpressed in Whole Blood (x6.3).

Protein differential expression in normal tissues from HIPED for TNFRSF1A Gene

This gene is overexpressed in Pancreatic juice (51.7), Platelet (9.7), and Fetal heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNFRSF1A Gene



Protein tissue co-expression partners for TNFRSF1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNFRSF1A

SOURCE GeneReport for Unigene cluster for TNFRSF1A Gene:

Hs.279594

Evidence on tissue expression from TISSUES for TNFRSF1A Gene

  • Nervous system(4.9)
  • Blood(4.9)
  • Muscle(4.6)
  • Intestine(4.5)
  • Lung(4.5)
  • Urine(4.4)
  • Spleen(4.3)
  • Kidney(4.3)
  • Skin(4.1)
  • Liver(3.8)
  • Lymph node(3.4)
  • Heart(3.4)
  • Bone marrow(3.3)
  • Stomach(2.9)
  • Adrenal gland(2.9)
  • Pancreas(2.7)
  • Thyroid gland(2.7)
  • Gall bladder(2.5)
  • Bone(2.5)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • chest wall
  • esophagus
  • heart
  • heart valve
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • rectum
  • testicle
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TNFRSF1A: view

No data available for mRNA Expression by UniProt/SwissProt for TNFRSF1A Gene

Orthologs for TNFRSF1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TNFRSF1A 30 31
  • 98.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TNFRSF1A 30 31
  • 82.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TNFRSF1A 30 31
  • 76.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tnfrsf1a 30
  • 75.15 (n)
Mouse
(Mus musculus)
Mammalia Tnfrsf1a 30 17 31
  • 73.24 (n)
OneToOne