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    TANK TRAF family member associated NFKB activator [ Homo sapiens (human) ]

    Gene ID: 10010, updated on 18-May-2019

    Summary

    Official Symbol
    TANKprovided by HGNC
    Official Full Name
    TRAF family member associated NFKB activatorprovided by HGNC
    Primary source
    HGNC:HGNC:11562
    See related
    Ensembl:ENSG00000136560 MIM:603893
    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
    ITRAF; TRAF2; I-TRAF
    Summary
    The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in appendix (RPKM 16.5), lymph node (RPKM 16.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See TANK in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (161136955..161236176)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (161993438..162092687)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 423, pseudogene Neighboring gene DEAD-box helicase 18 pseudogene Neighboring gene uncharacterized LOC105373719 Neighboring gene uncharacterized LOC101929512 Neighboring gene VISTA enhancer hs416 Neighboring gene long intergenic non-protein coding RNA 1806

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
    NHGRI GWA Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association study of antiphospholipid antibodies.
    NHGRI GWA Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    NHGRI GWA Catalog
    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Novel locus including FGF21 is associated with dietary macronutrient intake.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
      Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
    • Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon, organism-specific biosystem (from REACTOME)
      Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon, organism-specific biosystemCell stimulation with viral ds RNA leads to the activation of two IKK-related serine/threonine kinases, TBK1 and IKK-i which directly phosphorylate IRF3 and IRF7 promoting their dimerization and tran...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • MyD88-independent TLR3/TLR4 cascade, organism-specific biosystem (from REACTOME)
      MyD88-independent TLR3/TLR4 cascade, organism-specific biosystemMyD88-independent signaling pathway is shared by TLR3 and TLR4 cascades. TIR-domain-containing adapter-inducing interferon-beta (TRIF or TICAM1) is a key adapter molecule in transducing signals from ...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • RIG-I-like Receptor Signaling, organism-specific biosystem (from WikiPathways)
      RIG-I-like Receptor Signaling, organism-specific biosystemViral pathogen RNA are recognized by host helicases called RIG-I-like receptors (RLRs) that include DDX58 (RIG-I), DHX58 (LGP2), IFIH1 (MDA5), SNW1, and DDX17. These RLR proteins then go on to initia...
    • RIG-I-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      RIG-I-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
    • RIG-I-like receptor signaling pathway, conserved biosystem (from KEGG)
      RIG-I-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
    • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
      RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
    • Structural Pathway of Interleukin 1 (IL-1), organism-specific biosystem (from WikiPathways)
      Structural Pathway of Interleukin 1 (IL-1), organism-specific biosystemPathway published in http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1003470 IL-1 signaling pathway reconstructed by combining related pathways and information from the litera...
    • TNF alpha Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TNF alpha Signaling Pathway, organism-specific biosystemTumor necrosis factor alpha (TNF?) is a proinflammatory cytokine involved in various biological processes including regulation of cell proliferation, differentiation, apoptosis and immune response. T...
    • TRAF6 mediated IRF7 activation, organism-specific biosystem (from REACTOME)
      TRAF6 mediated IRF7 activation, organism-specific biosystemTRAF6 is crucial for both RIG-I- and MDA5-mediated antiviral responses. The absence of TRAF6 resulted in enhanced viral replication and a significant reduction in the production of type I IFNs and IL...
    • TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystem (from REACTOME)
      TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystemTRIF(TICAM1) was shown to induce IRF3/7 and NF-?B activation and apoptosis through distinct intracellular signaling pathways [Han KJ et al 2004; Kaiser WJ and Offermann MK et al 2005]. TRIF consists...
    • Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystemToll-like receptor 3 (TLR3) as was shown for mammals is expressed on myeloid dendritic cells, respiratory epithelium, macrophages, and appears to play a central role in mediating the antiviral and in...
    • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
    • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
      Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    deubiquitinase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to thiol-dependent ubiquitin-specific protease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    TRIF-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ubiquitin-specific protease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    TRAF family member-associated NF-kappa-B activator
    Names
    TRAF-interacting protein

    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.

    mRNA and Protein(s)

    1. NM_001199135.3NP_001186064.1  TRAF family member-associated NF-kappa-B activator isoform a

      See identical proteins and their annotated locations for NP_001186064.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC009299, AC009313
      Consensus CDS
      CCDS2215.1
      UniProtKB/Swiss-Prot
      Q92844
      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
      Related
      ENSP00000376505.2, ENST00000392749.6
      Conserved Domains (1) summary
      pfam12845
      Location:135186
      TBD; TBD domain
    2. NM_004180.2NP_004171.2  TRAF family member-associated NF-kappa-B activator isoform a

      See identical proteins and their annotated locations for NP_004171.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      U59863
      Consensus CDS
      CCDS2215.1
      UniProtKB/Swiss-Prot
      Q92844
      Related
      ENSP00000259075.2, ENST00000259075.6
      Conserved Domains (1) summary
      pfam12845
      Location:135186
      TBD; TBD domain
    3. NM_133484.1NP_597841.1  TRAF family member-associated NF-kappa-B activator isoform b

      See identical proteins and their annotated locations for NP_597841.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple exons from the 3' end and contains an alternate 3' segment compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, as compared to isoform (a).
      Source sequence(s)
      BC003388, U59863
      Consensus CDS
      CCDS46436.1
      UniProtKB/Swiss-Prot
      Q92844
      Related
      ENSP00000385983.1, ENST00000403609.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      161136955..161236176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452337.1XP_024308105.1  TRAF family member-associated NF-kappa-B activator isoform X7

      Conserved Domains (1) summary
      pfam12845
      Location:133
      TBD; TBD domain
    2. XM_017003094.1XP_016858583.1  TRAF family member-associated NF-kappa-B activator isoform X3

    3. XM_017003095.1XP_016858584.1  TRAF family member-associated NF-kappa-B activator isoform X5

    4. XM_017003097.1XP_016858586.1  TRAF family member-associated NF-kappa-B activator isoform X6

      UniProtKB/Swiss-Prot
      Q92844
      Conserved Domains (1) summary
      pfam12845
      Location:135186
      TBD; TBD domain
    5. XM_017003093.1XP_016858582.1  TRAF family member-associated NF-kappa-B activator isoform X2

      Conserved Domains (1) summary
      pfam12845
      Location:193244
      TBD; TBD domain
    6. XM_024452335.1XP_024308103.1  TRAF family member-associated NF-kappa-B activator isoform X4

      Conserved Domains (1) summary
      pfam12845
      Location:164215
      TBD; TBD domain
    7. XM_017003096.1XP_016858585.1  TRAF family member-associated NF-kappa-B activator isoform X6

      UniProtKB/Swiss-Prot
      Q92844
      Related
      ENSP00000385487.1, ENST00000405852.5
      Conserved Domains (1) summary
      pfam12845
      Location:135186
      TBD; TBD domain
    8. XM_024452333.1XP_024308101.1  TRAF family member-associated NF-kappa-B activator isoform X2

      Conserved Domains (1) summary
      pfam12845
      Location:193244
      TBD; TBD domain
    9. XM_005246207.3XP_005246264.2  TRAF family member-associated NF-kappa-B activator isoform X1

      See identical proteins and their annotated locations for XP_005246264.2

      Conserved Domains (1) summary
      pfam12845
      Location:161212
      TBD; TBD domain
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