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Aliases for TNFRSF1A Gene

Aliases for TNFRSF1A Gene

  • Tumor Necrosis Factor Receptor Superfamily Member 1A 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily, Member 1A 2 3
  • TNF-R1 3 4
  • TNF-RI 3 4
  • TNFR-I 3 4
  • TNFR1 3 4
  • TNFAR 3 4
  • P60 3 4
  • P55 3 4
  • 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
  • TNFR1-D2 3
  • TNF-R-I 3
  • TNF-R55 3
  • CD120a 3
  • TNFR55 3
  • TNFR60 3
  • TNF-R 3
  • P55-R 3
  • Tbp1 3
  • FPF 3
  • MS5 3

External Ids for TNFRSF1A Gene

Previous HGNC Symbols for TNFRSF1A Gene

  • TNFR1

Previous GeneCards Identifiers for TNFRSF1A Gene

  • GC12M006292
  • GC12M006412

Summaries for TNFRSF1A Gene

Entrez Gene Summary for TNFRSF1A Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFRSF1A Gene

TNFRSF1A (Tumor Necrosis Factor Receptor Superfamily Member 1A) is a Protein Coding gene. Diseases associated with TNFRSF1A include periodic fever, familial and multiple sclerosis 5. Among its related pathways are Adipocytokine signaling pathway and Alzheimer's disease. GO annotations related to this gene include protein complex binding and tumor necrosis factor-activated receptor activity. An important paralog of this gene is TNFRSF25.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFRSF1A Gene

Genomics for TNFRSF1A Gene

Regulatory Elements for TNFRSF1A Gene

Enhancers for TNFRSF1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TNFRSF1A on UCSC Golden Path with GeneCards custom track

Promoters for TNFRSF1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TNFRSF1A on UCSC Golden Path with GeneCards custom track

Genomic Location for TNFRSF1A Gene

Chromosome:
12
Start:
6,328,757 bp from pter
End:
6,342,117 bp from pter
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, BRE, FEM1B, GRB2, SQSTM1 and TRPC4AP. Interacts with HCV core protein. Interacts with human cytomegalovirus/HHV-5 protein UL138. Interacts directly with NOL3 (via CARD domain); inhibits TNF-signaling pathway (By similarity).

    Three dimensional structures from OCA and Proteopedia for TNFRSF1A Gene

    Alternative splice isoforms for TNFRSF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF1A Gene

Proteomics data for TNFRSF1A Gene at MOPED

Post-translational modifications for TNFRSF1A Gene

  • The soluble form is produced from the membrane form by proteolytic processing.
  • Glycosylation at Asn 54, Asn 145, and Asn 151
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for TNFRSF1A (TNF RI/TNFRSF1A)

Protein Products

  • Enzo Life Sciences proteins for TNFRSF1A

No data available for DME Specific Peptides for TNFRSF1A Gene

Domains & Families for TNFRSF1A Gene

Suggested Antigen Peptide Sequences for TNFRSF1A Gene

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.
  • Contains 4 TNFR-Cys repeats.
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.
  • Contains 1 death domain.
Similarity:
  • Contains 4 TNFR-Cys repeats.
genes like me logo Genes that share domains with TNFRSF1A: view

Function for TNFRSF1A Gene

Molecular function for TNFRSF1A Gene

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
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.
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

miRTarBase miRNAs that target TNFRSF1A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TNFRSF1A Gene COMPARTMENTS Subcellular localization image for TNFRSF1A gene
Compartment Confidence
extracellular 5
golgi apparatus 5
mitochondrion 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 2
nucleus 2
cytoskeleton 1
endosome 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TNFRSF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with TNFRSF1A: view

Pathways & Interactions for TNFRSF1A Gene

genes like me logo Genes that share pathways with TNFRSF1A: view

Pathways by source 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:0006693 prostaglandin metabolic process IEA --
GO:0006954 inflammatory response IEA,ISS --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway TAS --
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS --
genes like me logo Genes that share ontologies with TNFRSF1A: view

Drugs & Compounds for TNFRSF1A Gene

(59) 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 389
Infliximab Approved Pharma 358
Adalimumab Approved Pharma 451
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
tumour necrosis factor membrane form Pharma 0

(57) Additional Compounds for TNFRSF1A Gene - From: Novoseek and IUPHAR

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

Transcripts for TNFRSF1A Gene

Unigene Clusters for TNFRSF1A Gene

Tumor necrosis factor receptor superfamily, member 1A:
Representative Sequences:

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
ECgene alternative splicing isoforms for
TNFRSF1A

Expression for TNFRSF1A Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for TNFRSF1A Gene



SOURCE GeneReport for Unigene cluster for TNFRSF1A Gene Hs.279594

genes like me logo Genes that share expression patterns with TNFRSF1A: view

Protein tissue co-expression partners for TNFRSF1A Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia TNFRSF1A 35
  • 76.88 (n)
  • 68.02 (a)
TNFRSF1A 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF1A 35
  • 82.39 (n)
  • 76.52 (a)
TNFRSF1A 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf1a 35
  • 73.24 (n)
  • 66.21 (a)
Tnfrsf1a 16
Tnfrsf1a 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF1A 35
  • 98.67 (n)
  • 98.56 (a)
TNFRSF1A 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfrsf1a 35
  • 75.15 (n)
  • 65.99 (a)
oppossum
(Monodelphis domestica)
Mammalia TNFRSF1A 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNFRSF1A 36
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNFRSF1A 35
  • 50.61 (n)
  • 39.09 (a)
TNFRSF1A 36
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNFRSF1A 36
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnfrsf1a 35
  • 48.29 (n)
  • 41.27 (a)
zebrafish
(Danio rerio)
Actinopterygii tnfrsf1a 35
  • 45.14 (n)
  • 29.78 (a)
tnfrsf1a 36
  • 24 (a)
OneToMany
TNFRSF1A (2 of 2) 36
  • 26 (a)
OneToMany
Species with no ortholog for TNFRSF1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNFRSF1A Gene

ENSEMBL:
Gene Tree for TNFRSF1A (if available)
TreeFam:
Gene Tree for TNFRSF1A (if available)

Paralogs for TNFRSF1A Gene

Paralogs for TNFRSF1A Gene

genes like me logo Genes that share paralogs with TNFRSF1A: view

Variants for TNFRSF1A Gene

Sequence variations from dbSNP and Humsavar for TNFRSF1A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1804532 - 6,329,922(-) ACTGT(A/C/G)CCAAC reference, missense
VAR_013410 Familial hibernian fever (FHF)
VAR_013411 Familial hibernian fever (FHF)
VAR_013412 Familial hibernian fever (FHF)
VAR_013413 Familial hibernian fever (FHF)

Variation tolerance for TNFRSF1A Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNFRSF1A Gene

HapMap Linkage Disequilibrium report
TNFRSF1A
Human Gene Mutation Database (HGMD)
TNFRSF1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TNFRSF1A Gene

Disorders for TNFRSF1A Gene

MalaCards: The human disease database

(46) MalaCards diseases for TNFRSF1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
periodic fever, familial
  • tumor necrosis factor receptor-associated periodic syndrome
multiple sclerosis 5
  • multiple sclerosis, susceptibility to, 5
tumor necrosis factor receptor 1 associated periodic syndrome
  • familial hibernian fever
familial mediterranean fever, ar
  • familial mediterranean fever
paresthesia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNR1A_HUMAN
  • Familial hibernian fever (FHF) [MIM:142680]: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. {ECO:0000269 PubMed:10199409, ECO:0000269 PubMed:10902757, ECO:0000269 PubMed:11443543, ECO:0000269 PubMed:13130484, ECO:0000269 PubMed:14610673}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple sclerosis 5 (MS5) [MIM:614810]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269 PubMed:22801493}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An intronic mutation affecting alternative splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally truncated protein which is secreted and may function as a TNF antagonist.

Relevant External Links for TNFRSF1A

Genetic Association Database (GAD)
TNFRSF1A
Human Genome Epidemiology (HuGE) Navigator
TNFRSF1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNFRSF1A
genes like me logo Genes that share disorders with TNFRSF1A: view

No data available for Genatlas for TNFRSF1A Gene

Publications for TNFRSF1A Gene

  1. Molecular cloning and expression of a receptor for human tumor necrosis factor. (PMID: 2158863) Schall T.J. … Goeddel D.V. (Cell 1990) 2 3 4 67
  2. Dual function of cysteine rich domain (CRD) 1 of TNF receptor type 1: conformational stabilization of CRD2 and control of receptor responsiveness. (PMID: 19879354) BranschAodel M. … Scheurich P. (Cell. Signal. 2010) 3 23
  3. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PMID: 19336370) Dagle J.M. … Murray J.C. (Pediatrics 2009) 3 23
  4. CCAAT/enhancer binding proteins alpha and beta regulate the tumor necrosis factor receptor 1 gene promoter. (PMID: 19523687) Bristol J.A. … Kenney S.C. (Mol. Immunol. 2009) 3 23
  5. Expression of tumor necrosis factor receptors on granulocytes in patients with myeloperoxidase anti-neutrophil cytoplasmic autoantibody-associated vasculitis. (PMID: 19690440) Hasegawa M. … Sugiyama S. (Nephron Clin Pract 2009) 3 23

Products for TNFRSF1A Gene

Sources for TNFRSF1A Gene

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