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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBKBP1 Gene

protein-coding   GIFtS: 51
GCID: GC17P045772

TBK1 binding protein 1

 Explore 1 disease affiliated with
TBKBP1 via our new
 Human Malady Compendium 
Biological research products
for TBKBP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
TBK1 Binding Protein 11 2
ProSAPiP21 2
KIAA07751 3
TBK1-Binding Protein 12 3
SINTBAD2
TANK-Binding Kinase 1-Binding Protein 12

External Ids:    HGNC: 301401   Entrez Gene: 97552   Ensembl: ENSG000001989337   OMIM: 6084765   UniProtKB: A7MCY63   

Export aliases for TBKBP1 gene to outside databases

Previous GC identifers: GC17P043127 GC17P041141


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

Entrez Gene summary for TBKBP1:
TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM
191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 (PubMed 14743216)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: TBKB1_HUMAN, A7MCY6
Function: Adapter protein which constitutively binds TBK1 and IKBKE and may play a role in antiviral innate immunity
(By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBKBP1 gene promoter:
         AhR   RREB-1   Lmo2   POU3F2   NF-E2 p45   Arnt   HOXA5   c-Myb   LyF-1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBKBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBKBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBKBP1


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

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

TBKBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBKBP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P045772:  view genomic region     (about GC identifiers)

Start:
45,771,447 bp from pter      End:
45,789,429 bp from pter
Size:
17,983 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBKB1_HUMAN, A7MCY6 (See protein sequence)
Recommended Name: TANK-binding kinase 1-binding protein 1  
Size: 615 amino acids; 67702 Da
Subunit: Homodimer. May form a heterodimer with NAP1. Interacts with TKB1 and IKBKE (By similarity)
Sequence caution: Sequence=BAA34495.2; Type=Erroneous initiation;
Secondary accessions: B2RZG6 O94873 Q14DW3
Alternative splicing: 2 isoforms:  A7MCY6-1   A7MCY6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBKBP1: NX_A7MCY6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A7MCY6

  • TBKBP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055541.1  
    ENSEMBL proteins: 
     ENSP00000462339   ENSP00000446365   ENSP00000354777  

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    Uscn ELISAs and CLIAs for TBKBP1


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

    TBKBP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR024581 TBD

    Graphical View of Domain Structure for InterPro Entry A7MCY6

    ProtoNet protein and cluster: A7MCY6


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TBKB1_HUMAN, A7MCY6
    Function: Adapter protein which constitutively binds TBK1 and IKBKE and may play a role in antiviral innate immunity
    (By similarity)

    miRNA
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    hsa-let-7d hsa-miR-513a-5p hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-637 hsa-miR-3116 hsa-miR-520g
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    TBKBP1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NF-kappaB Signaling
    NF-kappaB Signaling1.00
    2RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I-like receptor signaling pathway0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TBKBP1
        NF-kappaB Signaling


    1         Kegg Pathway  (Kegg details for TBKBP1):
        RIG-I-like receptor signaling pathway


    TBKBP1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBKBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/16 Interacting proteins for TBKBP1 (A7MCY61, 2, 3 ENSP000003547774) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBK1Q9UHD22, 3, ENSP000003299674MINT-5114931 MINT-5114886 MINT-49254 MINT-48041 MINT-5114907 MINT-5115080 I2D: score=6 STRING: ENSP00000329967
    RB1CC1Q8TDY21, 3, ENSP000000250084EBI-359969,EBI-1047793 I2D: score=2 STRING: ENSP00000025008
    EIF2C2Q9UKV81, 3EBI-359969,EBI-528269 I2D: score=1 
    IKBKEQ141642, 3, ENSP000003560874MINT-5114952 MINT-5114886 I2D: score=3 STRING: ENSP00000356087
    AGO2Q9UKV81, 3, ENSP000002205924EBI-359969,EBI-528269 I2D: score=1 STRING: ENSP00000220592
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045087innate immune response IEA--


    TBKBP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBKBP1
    Search CenterWatch for drugs/clinical trials and news about TBKBP1 / TBKB1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBKBP1 gene: 
    NM_014726.2  

    Unigene Cluster for TBKBP1:

    TBK1 binding protein 1
    Hs.94790  [show with all ESTs]
    Unigene Representative Sequence: NM_014726
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000578982 ENST00000537587 ENST00000361722(uc002ilu.3)

    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate TBKBP1 (see all 39):
    hsa-let-7d hsa-miR-513a-5p hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-637 hsa-miR-3116 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidTBKBP1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBKBP1
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    Additional cDNA sequence: 

    AB018318.1 BC111418.1 BC152407.1 BC167150.1 

    4 DOTS entries:

    DT.211461  DT.120946908  DT.95365893  DT.102824607 

    24/64 AceView cDNA sequences (see all 64):

    AI242025 BM709305 BU733532 BQ003943 BX280712 BM708383 BX393869 BU732451 
    AI146283 AB018318 BQ941075 CB243387 AA833948 AA340006 CR620734 AI014800 
    CN479801 BM669266 BG910616 AI278474 BU732140 AV742609 BM424049 AI475535 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBKBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCCGCTCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TBKBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBKBP1

    SOURCE GeneReport for Unigene cluster: Hs.94790
        SABiosciences Custom PCR Arrays for TBKBP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBKBP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TBKBP1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TBKBP11 TBK1 binding protein 1 71.96(n)
    68.63(a)
      430679  XM_428232.3  XP_428232.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBKBP16
    --
    66(a)
    1 ↔ 1
    6(74277032-74326865)
    zebrafish
    (Danio rerio)
    Actinopterygii CR932059.26
    --
    44(a)
    1 ↔ 1
    12(30165379-30226482)


    ENSEMBL Gene Tree for TBKBP1 (if available)
    TreeFam Gene Tree for TBKBP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/267 NCBI SNPs in TBKBP1 are shown (see all 267    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1509947081,2
    C,--45770828(+) GTGTG-/GGGA  
            
    GGGAG
    1 -- us2k10--------
    rs1869577371,2
    --45770936(+) CAATGC/TATTTA 1 -- us2k10--------
    rs557485551,2
    C--45771016(+) AAAAAA/-GCCAA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs80755661,2
    C,F,A,H,--45771037(+) AGCCAA/GATAAA 1 -- us2k119Minor allele frequency- G:0.36NS EA WA CSA NA 2336
    rs1932534741,2
    --45771297(+) GCGGCA/GGGGTC 1 -- us2k10--------
    rs1495557301,2
    --45771774(+) CCTTCA/CCCGGC 1 -- us2k10--------
    rs620740541,2
    C,F,--45771816(+) GCCGGC/TTGTGG 1 -- us2k16Minor allele frequency- T:0.32NA CSA WA EA 363
    rs679192081,2
    C,--45771873(+) ATTTCC/TGTCGG 1 -- us2k15Minor allele frequency- T:0.43NA CSA WA EA 361
    rs620740551,2
    C,--45771933(+) GCCCGC/GGCCGA 1 -- us2k14Minor allele frequency- G:0.44NA CSA WA 241
    rs1853867441,2
    --45771936(+) CGGGCA/CGACAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBKBP1 (45771447 - 45789429 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TBKBP1
         1 CNV: 30841

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TBKBP1 for disorders           About GeneDecksing

    OMIM gene information: 608476    OMIM disorders: --

    1 disease for TBKBP1:    About MalaCards
    parkinson's disease

    1 disease from the University of Copenhagen DISEASES database for TBKBP1:
    Low tension glaucoma

    Export disorders for TBKBP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBKBP1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with TBKBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. (PubMed id 14743216)1, 2, 3 Bouwmeester T....Superti-Furga G. (2004)
    2. ProSAPiP2, a novel postsynaptic density protein that i nteracts with ProSAP2/Shank3. (PubMed id 19481056)1, 3 Liebau S....Boeckers T.M. (2009)
    3. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (1998)
    4. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    5. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    6. Genome-wide meta-analysis identifies novel multiple sc lerosis susceptibility loci. (PubMed id 22190364)1 Patsopoulos N.A....de Bakker P.I. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Interaction between ERAP1 and HLA-B27 in ankylosing sp ondylitis implicates peptide handling in the mechanism for HLA-B27 in disease su sceptibility. (PubMed id 21743469)1 Evans D.M.... . (2011)
    9. The TBK1 adaptor and autophagy receptor NDP52 restric ts the proliferation of ubiquitin-coated bacteria. (PubMed id 19820708)1 Thurston T.L....Randow F. (2009)
    10. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9755 HGNC: 30140 AceView: ProSAPiP2 Ensembl:ENSG00000198933 euGenes: HUgn9755
    ECgene: TBKBP1 Kegg: 9755 H-InvDB: TBKBP1

    (According to HUGE)
    About This Section
    HUGE: KIAA0775

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBKBP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBKBP1 gene:
    Search GeneIP for patents involving TBKBP1

    GeneCards and IP:
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