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TNFRSF1A Gene

protein-coding   GIFtS: 71

GC12M006308
tumor necrosis factor receptor superfamily, member 1A
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TNFR1)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
tumor necrosis factor receptor superfamily, member 1A1 2     FPF2 5
TNFAR1 2 3 5     tumor necrosis factor receptor superfamily member 1A2
TNFR12 3 5     tumor necrosis factor-alpha receptor2
CD120a1 2     p55-R2
TNFR601 2     tumor necrosis factor receptor type 12
TNF-R551 2     tumor necrosis factor binding protein 12
TNF-R-I1 2     TBP12
TNF-R1 2     tumor necrosis factor receptor 1A isoform beta2
TNF-R12 3     TNFR552
TNFR-I2 3     MGC195882
p602 3     Tumor necrosis factor receptor 13
TNF-RI2 3     CD120a antigen3
p552 3     Tumor necrosis factor receptor type I3

External Ids:    HGNC: 119161   Entrez Gene: 71322   Ensembl: ENSG000000671827   UniProtKB: P194383   

Export aliases for TNFRSF1A gene to outside databases

Previous GC identifers: GC12M006292 GC12M006412


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNFRSF1A:
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)

UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438
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

Gene Wiki entry for TNFRSF1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TNFRSF1A gene promoter:
         AP-1   CREB   deltaCREB   STAT1beta   CUTL1   STAT1alpha   STAT1   STAT5A   IRF-1   Sp1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for TNFRSF1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.2   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.2

TNFRSF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF1A gene location

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M006308:  view genomic region     (about GC identifiers)

Start:
6,291,179 bp from pter
End:
6,304,533 bp from pter
Size:
13,355 bases
Orientation:
minus strand

1 alternative location:
Chr12- 6,437,924-6,451,261     
RefSeq DNA sequence:
NC_000012.11  NT_009759.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438 (See protein sequence)
Recommended Name: Tumor necrosis factor receptor superfamily member 1A precursor  
Size: 455 amino acids; 50495 Da
Subunit: 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
Subcellular location: Cell membrane; Single-pass type I membrane protein. Secreted
PDB structures from and Proteopedia :
1EXT (3D)    1FT4 (3D)    1ICH (3D)    1NCF (3D)    1TNR (3D)    
Secondary accessions: A8K4X3 B2RDE4 B3KPQ1 B4DQB7 B4E309 Q9UCA4
Alternative splicing: 3 isoforms:  P19438-1   P19438-2   P19438-3   

Explore the universe of human proteins at neXtProt for TNFRSF1A: NX_P19438 

Post-translational modifications:

  • The soluble form is produced from the membrane form by proteolytic processing1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001056.1  

    ENSEMBL proteins: 
    ENSP00000162749 ENSP00000413224 


    Human Recombinant Proteins 
    Millipore Purified and/or Recombinant TNFRSF1A Protein
    Sigma-Aldrich Proteins for TNFRSF1A
    R&D Systems Recombinant & Natural Proteins for TNFRSF1A (TNF RI/TNFRSF1A)
    Enzo Life Sciences proteins for TNFRSF1A
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: TNFRSF1A
    GenScript Custom Purified and Recombinant Proteins Services for TNFRSF1A 
    Novus Biologicals Proteins for TNFRSF1A
    Novus Biologicals Lysate for TNFRSF1A
    Sino Biological Recombinant Protein for TNFRSF1A
    ProSpec Recombinant Protein for TNFRSF1A

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS12189246
    GO:0005886 plasma membrane EXP12887920
    GO:0005887 integral to plasma membrane TAS1698610
    GO:0043234 protein complex IEA--
    GO:0045121 membrane raft IDA17010968
    About this table

    TNFRSF1A for ontologies           About GeneDecksing



    Antibodies for TNFRSF1A: 
    Millipore Mono- and Polyclonal Antibodies for the study of TNFRSF1A
    Sigma-Aldrich Antibodies for TNFRSF1A
    R&D Systems Antibodies for TNFRSF1A (TNF RI/TNFRSF1A)
    Cell Signaling Technology (CST) Antibodies for TNFRSF1A  (TNF-R1)
    OriGene Antibodies: TNFRSF1A
    GenScript Custom Superior Antibodies Services for TNFRSF1A 
    Novus Biologicals Antibodies for TNFRSF1A
    Epitomics antibodies for TNFRSF1A

    Assays for TNFRSF1A: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    R&D Systems ELISAs for TNFRSF1A (TNF RI/TNFRSF1A)
    GenScript Custom Assay Services for TNFRSF1A 
    Enzo Life Sciences assays for TNFRSF1A
    Uscn ELISAs and CLIAs for TNFRSF1A 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TNFRSF1A for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001368 TNFR_Cys_rich_reg
     IPR020419 TNFR_1A
     IPR011029 DEATH-like
     IPR000488 Death

    Graphical View of Domain Structure for InterPro Entry P19438

    ProtoNet protein and cluster: P19438

    2 Blocks protein families:
    IPB000488 Death domain
    IPB001368 TNFR/CD27/30/40/95 cysteine-rich region


    UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438
    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
    Domain: Both the cytoplasmic membrane-proximal region and the C-terminal region containing the death domain are
    involved in the interaction with TRPC4AP (By similarity)
    Similarity: Contains 1 death domain
    Similarity: Contains 4 TNFR-Cys repeats


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438
    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

    Inhib.
    RNA:
        
    Millipore RNAi Products for the Analysis of TNFRSF1A Gene knock-down
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for TNFRSF1A
    Sigma-Aldrich shRNA Panels and shRNA for TNFRSF1A
    OriGene 29mer shRNA kits in GFP-retroviral vector: TNFRSF1A
    OriGene shRNA RFP: TNFRSF1A
    OriGene basic RS shRNA: TNFRSF1A
    OriGene siRNA: TNFRSF1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TNFRSF1A 
    miRNA:Sigma-Aldrich microRNA Mimics for TNFRSF1A
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TNFRSF1A 
    3 SABiosciences Assays for microRNAs that regulate TNFRSF1A:
    hsa-miR-29c hsa-miR-29a hsa-miR-29b

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: TNFRSF1A
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: TNFRSF1A
    OriGene untagged cDNA clones in CMV expression vector (see all 2): TNFRSF1A
    OriGene 3'-UTR clone: TNFRSF1A 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for TNFRSF1A 
    Sino Biological Human cDNA Clone for TNFRSF1A

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for TNFRSF1A 

    Genatlas biochemistry entry for TNFRSF1A:
    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

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872 receptor activity IEA--
    GO:0005031 tumor necrosis factor receptor activity TAS2158863
    GO:0005515 protein binding IPI7758105
    GO:0032403 protein complex binding IEA--
    About this table

    TNFRSF1A for ontologies           About GeneDecksing

    Animal Models: 15/25 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Tnfrsf1a) (see all 25):

    adipose tissuebehavior/neurologicalcardiovascular systemcellulardigestive/alimentary
    embryogenesisendocrine/exocrine glandgrowth/sizehematopoietic systemhomeostasis/metabolism
    immune systemlethality-postnatallethality-prenatal/perinatallife span-post-weaning/aginglimbs/digits/tail

    TNFRSF1A for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    TNFRSF1A for pathways           About GeneDecksing

    5/9 Millipore Pathways for TNFRSF1A (see all 9)
        Transcription NF-kB signaling pathway
    Apoptosis and survival TNFR1 signaling pathway
    Apoptosis and survival Caspase cascade
    Immune response IL-9 signaling pathway
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    5/28 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  TNFRSF1A (see all 28)
        Germ Cell-Sertoli Cell Junction Signaling
    HMGB1 Signaling
    Dendritic Cell Maturation
    LXR/RXR Activation
    TNFR1 Signaling

    2 Cell Signaling Technology (CST) Pathways for TNFRSF1A
        Insulin Receptor Signaling
    Death Receptor Signaling

    5/9 Kegg Pathways  (Kegg details for TNFRSF1A) (see all 9):
        hsa04010 MAPK signaling pathway
    hsa04060 Cytokine-cytokine receptor interaction
    hsa04210 Apoptosis
    hsa04920 Adipocytokine signaling pathway
    hsa05010 Alzheimer's disease

        SABiosciences Pathway-Focused PCR Arrays including TNFRSF1A (see all 11): PAHS-003A PAHS-012A  

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for TNFRSF1A
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TNFRSF1A

    5/162 Interacting proteins for TNFRSF1A (P194381, 2 ENSP000001627493) via UniProtKB, MINT, and/or STRING (see all 162)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRADDQ156281, 2, ENSP000003412683EBI-299451,EBI-359215 MINT-14992 MINT-14991 MINT-14993 STRING: ENSP00000341268
    RIPK1Q135461, ENSP000003697733EBI-299451,EBI-358507 STRING: ENSP00000369773
    NSMAFQ926362, ENSP000000381763MINT-5115828 STRING: ENSP00000038176
    TNFP013751, 2EBI-299451,EBI-359977 MINT-48045 MINT-49295
    CSNK1A1P487291EBI-299451,EBI-1383726
    About this table

    5/18 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 18):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006693 prostaglandin metabolic process IEA--
    GO:0006915 apoptosis TAS--
    GO:0006952 defense response ----
    GO:0006954 inflammatory response ISS--
    GO:0007165 signal transduction IEA--
    About this table

    TNFRSF1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    TNFRSF1A for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TNFRSF1A
    10/108 Novoseek chemical compound relationships for TNFRSF1A gene (see all 108)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    solamargine 68.7 7 8954074 (2), 18078328 (1), 11108802 (1)
    etanercept 67.5 33 11458980 (2), 12452839 (2), 18408954 (2), 10949736 (1) (see all 25)
    tab-1 62.9 2 17439942 (1), 17673602 (1)
    tri (d) 60 4 16631736 (1), 15357952 (1)
    bcma 56 7 9846698 (2), 10903733 (2), 16357320 (1), 14720511 (1)
    infliximab 43.3 12 16265686 (2), 19180495 (2), 17618693 (1), 15372221 (1) (see all 7)
    ceramide 42.1 12 15721320 (2), 9810003 (1), 15817701 (1), 9743381 (1) (see all 9)
    endotoxin 36.9 23 9950912 (3), 9684796 (3), 9075062 (2), 10353534 (2) (see all 10)
    cysteine 30.1 27 7567962 (3), 9921712 (2), 10964568 (1), 11175303 (1) (see all 20)
    gp 130 27.9 7 10622477 (1), 9890661 (1), 10414448 (1), 18779056 (1) (see all 5)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Millipore RNAi Products for the Analysis of TNFRSF1A Gene knock-down
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for TNFRSF1A
    Sigma-Aldrich shRNA Panels and shRNA for TNFRSF1A
    OriGene 29mer shRNA kits in GFP-retroviral vector: TNFRSF1A
    OriGene shRNA RFP: TNFRSF1A
    OriGene basic RS shRNA: TNFRSF1A
    OriGene siRNA: TNFRSF1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TNFRSF1A 
    miRNA: Sigma-Aldrich microRNA Mimics for TNFRSF1A
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TNFRSF1A 
    3 SABiosciences Assays for microRNAs that regulate TNFRSF1A:
    hsa-miR-29c hsa-miR-29a hsa-miR-29b
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: TNFRSF1A
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: TNFRSF1A
    OriGene untagged cDNA clones in CMV expression vector (see all 2): TNFRSF1A
    OriGene 3'-UTR Clone: TNFRSF1A 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for TNFRSF1A 
    Primers: OriGene genome-wide validated SYBR primer pairs: TNFRSF1A
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for TNFRSF1A: PPH00346A

    REFSEQ mRNAs for TNFRSF1A gene: 

    NM_001065.3  

    Additional cDNA sequence: 

    AK056611.1 AK291088.1 AK308061.1 AK315509.1 AY182755.1 BC010140.2 CR593985.1 CR596841.1 
    CR597821.1 CR606215.1 CR622520.1 EU927389.1 M33294.1 M58286.1 M60275.1 M63121.1 

    24/38 DOTS entries (see all 38):

    DT.100834768  DT.100834760  DT.100834763  DT.95320606  DT.100834766  DT.100834775  DT.100834769  DT.65286582 
    DT.100837461  DT.100840631  DT.121189379  DT.121189284  DT.121189378  DT.40208840  DT.87077608  DT.121189349 
    DT.91847911  DT.95137580  DT.121189298  DT.121189408  DT.95137577  DT.121189292  DT.121189354  DT.95137593 

    24/368 AceView cDNA sequences (see all 368):

    BQ723672 BX397891 CR597821 BM694442 AU142163 BU158498 BX399373 AU280523 
    CD671768 BU189221 CR596841 BM767536 CR622520 BC010140 CB134521 BM756214 
    BU181102 BQ880824 BM982071 BQ027050 BI870917 CF454049 BM789569 BG180101 

    highest scoring ESTs for TNFRSF1A:

    M58286 AI815635 AU076821 AU100531 AU124446 AU124519 AU125021 AU125646 AU125680 AU125694 

    Unigene Cluster for TNFRSF1A:

    Tumor necrosis factor receptor superfamily, member 1A
    Hs.279594  [show with all ESTs]
    Unigene Representative Sequence: NM_001065


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF1A (see all 12)

    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:                                                                                                                    -           -     -     -               

    ExUns: 12 ^ 13 ^ 14
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  

    About this scheme

    ECgene alternative splicing isoforms for TNFRSF1A
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000162749(uc001qnt.2 uc001qnu.2 uc010sey.1 uc010sez.1 uc009zek.2)
    ENST00000440083(uc010sfa.1)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    TNFRSF1A expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching TNFRSF1A gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1563_s_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M58286 1.00 1.00 1.00 1
    207643_s_at2, 3 U133-A 1 0.91 1.00 -- -- NM_001065 0.60 1.00 0.82 1
    207643_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    TNFRSF1A for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    TNFRSF1A gene expression
    TNFRSF1A gene electronic northern expression
    TNFRSF1A gene sage expression
    About these images

    CGAP SAGE TAG: TTACACTAAT

    SOURCE GeneReport for Unigene cluster: Hs.279594
    Primers: OriGene genome-wide validated SYBR primer pairs: TNFRSF1A
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for TNFRSF1A: PPH00346A
        SABiosciences Expression via Pathway-Focused PCR Arrays including TNFRSF1A (see all 11): PAHS-003A PAHS-012A  


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for TNFRSF1A gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TNFRSF1A1   -- tumor necrosis factor receptor superfamily, member more 82.39(n)
    76.52(a)
    403634  XM_849381.1  XP_854474.1 
    chimpanzee
    (Pan troglodytes)
    TNFRSF1A1   -- tumor necrosis factor receptor superfamily, member more 91.37(n)
    89.76(a)
    466934  XM_522334.2  XP_522334.2 
    cow
    (Bos taurus)
    TNFRSF1A1   -- tumor necrosis factor receptor superfamily, member more 77.03(n)
    68.02(a)
    282527  NM_174674.2  NP_777099.1 
    rat
    (Rattus norvegicus)
    Tnfrsf1a1   -- tumor necrosis factor receptor superfamily, member more 75.08(n)
    66.22(a)
    25625  NM_013091.1  NP_037223.1 
    mouse
    (Mus musculus)
    Tnfrsf1a1 , 5 6 (59.32 cM)5
    tumor necrosis factor receptor superfamily, member more1, 5 73.47(n)1
    66.21(a)1
    219371  NM_011609.31  NP_035739.21 
     AK1543885  AK1599895  (see all 28)
    About this table        Species with no ortholog for TNFRSF1A

    ENSEMBL Gene Tree for TNFRSF1A (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for TNFRSF1A gene
    TNFRSF252  

    TNFRSF1A for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/253 NCBI SNPs in TNFRSF1A are shown (see all 253)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7674551,2
    C,F,A,6450945(+) ACCAGT/CGGCAG 2 /P ref1 syn1 ese328Minor allele frequency- C:0.36NA EA NS MN 1705
    rs8772491,2
    C,F,6443812(-) GTGGTT/GCACGG 1 -- int13Minor allele frequency- G:0.23NS WA 96
    rs8874771,2
    C,F,A,H,6445982(-) GGGACG/TGGGGA 1 -- int127Minor allele frequency- T:0.46EA NA NS MN WA 2794
    rs18006921,2
    C,F,A,6442346(-) GCGCTC/TCTCCT 1 -- int1 trp315Minor allele frequency- T:0.36EA NS MN NA WA 2068
    rs18006931,2
    C,F,6440009(-) GGAGAA/GGTGAC 1 -- int114Minor allele frequency- G:0.35NS EA NA 1796
    rs18605451,2
    C,F,O,6446777(-) GACATC/TGTCAA 1 -- int119Minor allele frequency- T:0.24NS EA NA WA 1322
    rs22346491,2
    C,F,6451363(-) GCCAGA/CTCTGG 1 -- ng5116Minor allele frequency- C:0.07NS MN EA WA 1626
    rs22843441,2
    C,F,A,H,6445329(-) GCTGGC/GGTCCC 1 -- int19Minor allele frequency- G:0.42EA NA 1723
    rs23638881,2
    --6443748(+) accctC/Tcacca 1 -- int10--------
    rs41495691,2
    C,F,A,H,6452468(-) tttagG/Caggct 1 -- ng516Minor allele frequency- C:0.40NS NA 102
    About this table

    HapMap Linkage Disequilibrium images for TNFRSF1A (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TNFRSF1A: --

    QIAGEN SeqTarget long-range PCR primers for resequencing TNFRSF1A 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TNFRSF1A for disorders           About GeneDecksing

    OMIM: 191190   disorders: 142680  

    UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438

  • Defects in TNFRSF1A are the cause of familial hibernian fever (FHF) [MIM:142680]; also known as tumor necrosis
  • factor receptor-associated periodic syndrome (TRAPS). FHF is 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

    10/91 Novoseek disease relationships for TNFRSF1A gene (see all 91)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumor necrosis factor receptor-associated periodic syndrome 92.3 36 11817598 (2), 15492850 (2), 15570662 (2), 11318938 (1) (see all 26)
    necrosis 92 1452 10561634 (6), 7573266 (5), 1648538 (5), 12406325 (4) (see all 99)
    tumors 82.5 1294 10561634 (6), 7573266 (5), 14598359 (5), 1648538 (5) (see all 99)
    hereditary periodic fever syndromes 71.6 1 15071491 (1)
    relapsing fever 61 12 11953985 (3), 10902757 (2), 15071491 (1), 11175303 (1) (see all 6)
    rheumatoid arthritis 59.8 41 9391689 (6), 9219699 (2), 7621589 (2), 9290265 (2) (see all 27)
    inflammation 59.3 55 9391689 (2), 17852784 (2), 9865650 (2), 9330935 (1) (see all 44)
    familial mediterranean fever 56.6 8 11318938 (1), 16019157 (1), 12209523 (1), 15502081 (1) (see all 6)
    muckle-wells syndrome 53.4 1 16019157 (1)
    autoimmune diseases 41.8 21 15280569 (1), 19386778 (1), 20173385 (1), 11007755 (1) (see all 15)
    About this table

    1 PharmGKB disease relationship for TNFRSF1A gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    Locus Specific Mutation Databases (LSDB): TNFRSF1A
    Human Gene Mutation Database (HGMD): TNFRSF1A
    Genetic Association Database (GAD): TNFRSF1A
    Human Genome Epidemiology (HuGE) Navigator: TNFRSF1A (117 documents)

    Export disorders and mutations for TNFRSF1A gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/1285 PubMed articles for TNFRSF1A gene, integrated from 7 sources (see all 1285):
    (articles sorted by number of sources associating them with TNFRSF1A)
    1. Molecular cloning and expression of a receptor for human tumor necrosis factor. (PubMed id 2158863)1, 2, 3, 7 Schall T.J....Raab H. (1990)
    2. Heterogeneity among patients with tumor necrosis factor receptor- associated periodic syndrome phenotypes. (PubMed id 13130484)1, 2, 4, 7 Aganna E.... McDermott M.F. (2003)
    3. A TNFR1 genotype with a protective role in familial rheumatoid arthritis. (PubMed id 14872483)1, 4, 7 Dieude P....Cornelis F. (2004)
    4. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. (PubMed id 10902757)1, 2, 7 Dode C.... Grateau G. (2000)
    5. Association of polymorphisms of the tumour necrosis factor receptors I and II and rheumatoid arthritis. (PubMed id 12730509)1, 4, 7 Bayley J.P....Verweij C.L. (2003)
    6. Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13. (PubMed id 1315717)1, 2, 7 Fuchs P.... Ambros P.F. (1992)
    7. Tumor necrosis factor receptor gene polymorphisms in Crohn's disease: association with clinical phenotypes. (PubMed id 15842589)1, 4, 7 Waschke K.A....Wild G.E. (2005)
    8. Anemia in rheumatoid arthritis: association with polymorphism in the tumor necrosis factor receptor I and II genes. (PubMed id 16142859)1, 4, 7 Glossop J.R....Mattey D.L. (2005)
    9. Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy. (PubMed id 11163081)1, 4, 7 Nishimura M....Uchiyama T. (2000)
    10. Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. (PubMed id 15492850)1, 4, 7 Horiuchi T....Okamura S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7132 HGNC: 11916 AceView: TNFRSF1A Ensembl:ENSG00000067182 euGenes: HUgn7132
    ECgene: TNFRSF1A Kegg: 7132 H-InvDB: TNFRSF1A

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for TNFRSF1A Genetics and Cytogenetics in Oncology and Haematology
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/disease_menu.php?n=2
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF1A
    SeattleSNPshttp://pga.gs.washington.edu/data/tnfrsf1a/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for TNFRSF1A gene:
    Search GeneIP for patents involving TNFRSF1A

    GeneCards and IP:
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