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    TBKBP1 TBK1 binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 9755, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TBKBP1provided by HGNC
    Official Full Name
    TBK1 binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:30140
    See related
    Ensembl:ENSG00000198933 MIM:608476; AllianceGenome:HGNC:30140
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SINTBAD; ProSAPiP2
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 4.8), fat (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBKBP1 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47694063..47712063)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48555851..48573871)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45771429..45789429)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene aminopeptidase puromycin sensitive Neighboring gene KPNB1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45725440-45726285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12314 Neighboring gene karyopherin subunit beta 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45771282-45771962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45771963-45772642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45772643-45773323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791473-45791974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791975-45792474 Neighboring gene TBX21 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12316 Neighboring gene T-box transcription factor 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45855331-45855844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45866576-45867378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45867379-45868179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45885766-45886266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45886267-45886767 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45899123-45899338 Neighboring gene oxysterol binding protein like 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility. Sorosina M, et al. J Neurol, 2022 Aug. PMID 35545683, Free PMC Article
    2. Analysis of PPARGC1B, RUNX3 and TBKBP1 polymorphisms in Chinese Han patients with ankylosing spondylitis: a case-control study. Lian Z, et al. PLoS One, 2013. PMID 23637848, Free PMC Article
    3. Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese. Zheng X, et al. J Rheumatol, 2020 May 1. PMID 31523044
    4. Analysis of clinical indexes and RUNX3, TBKBP1, PPARGC1B polymorphisms in Chinese Han patients with ankylosing spondylitis. Liu J, et al. Genet Test Mol Biomarkers, 2015 Jan. PMID 25494292
    5. Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma. Seo S, et al. Curr Eye Res, 2013 Feb. PMID 23286385, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
      Title: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
    2. Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.
      Title: Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.
    3. The TBK1-TBKBP1 axis facilitates tumour-mediated immunosuppression.
      Title: TBKBP1 and TBK1 form a growth factor signalling axis mediating immunosuppression and tumourigenesis.
    4. we show that, essential for anti-bacterial autophagy, the cargo receptor NDP52 forms a trimeric complex with FIP200 and SINTBAD/NAP1, which are subunits of the autophagy-initiating ULK and the TBK1 kinase complex, respectively. FIP200 and SINTBAD/NAP1 are each recruited independently to bacteria via NDP52, as revealed by selective point mutations in their respective binding sites
      Title: The Cargo Receptor NDP52 Initiates Selective Autophagy by Recruiting the ULK Complex to Cytosol-Invading Bacteria.
    5. The two selected single nucleotide polymorphisms (SNPs) in TBKBP1 show no relationship with the clinical outcomes. None of the 12 SNPs is related to mSASSS.
      Title: Analysis of clinical indexes and RUNX3, TBKBP1, PPARGC1B polymorphisms in Chinese Han patients with ankylosing spondylitis.
    6. TBKBP1 is associated with the severity of ankylosing spondylitis in the Chinese Han population
      Title: Analysis of PPARGC1B, RUNX3 and TBKBP1 polymorphisms in Chinese Han patients with ankylosing spondylitis: a case-control study.
    7. Studies show that three proteins expressed in HEK-293T cells (NAP1, TANK and TBKBP1) interact with TBK1.
      Title: Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma.
    8. results suggest that efficient signal transduction upon viral infection requires SINTBAD, TANK and NAP1 because they link TBK1 and IKKi to virus-activated signalling cascades
      Title: SINTBAD, a novel component of innate antiviral immunity, shares a TBK1-binding domain with NAP1 and TANK.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0775

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of serine/threonine protein kinase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TANK-binding kinase 1-binding protein 1

    NCBI Reference Sequences (RefSeq)

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    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_001394755.1 → NP_001381684.1  TANK-binding kinase 1-binding protein 1

      Status: VALIDATED

      Source sequence(s)
      AC015674
      Consensus CDS
      CCDS45722.1
      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3
      Related
      ENSP00000462339.2, ENST00000578982.6
      Conserved Domains (2) summary
      TIGR02168
      Location:47 → 332
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12845
      Location:288 → 341
      TBD; TBD domain

    2. NM_001394756.1 → NP_001381685.1  TANK-binding kinase 1-binding protein 1

      Status: VALIDATED

      Source sequence(s)
      AC015674
      Consensus CDS
      CCDS45722.1
      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3
      Conserved Domains (2) summary
      TIGR02168
      Location:47 → 332
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12845
      Location:288 → 341
      TBD; TBD domain

    3. NM_014726.2 → NP_055541.1  TANK-binding kinase 1-binding protein 1

      See identical proteins and their annotated locations for NP_055541.1

      Status: VALIDATED

      Source sequence(s)
      BC167150, CB241552, DT217050
      Consensus CDS
      CCDS45722.1
      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3
      Related
      ENSP00000354777.3, ENST00000361722.7
      Conserved Domains (2) summary
      TIGR02168
      Location:47 → 332
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12845
      Location:288 → 341
      TBD; TBD domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47694063..47712063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437156.1 → XP_047293112.1  TANK-binding kinase 1-binding protein 1 isoform X2

    2. XM_005257861.5 → XP_005257918.1  TANK-binding kinase 1-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005257918.1

      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3
      Conserved Domains (2) summary
      TIGR02168
      Location:47 → 332
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12845
      Location:288 → 341
      TBD; TBD domain

    3. XM_047437154.1 → XP_047293110.1  TANK-binding kinase 1-binding protein 1 isoform X2

    4. XM_047437153.1 → XP_047293109.1  TANK-binding kinase 1-binding protein 1 isoform X2

    5. XM_017025432.2 → XP_016880921.1  TANK-binding kinase 1-binding protein 1 isoform X3

      Conserved Domains (2) summary
      pfam12845
      Location:289 → 339
      TBD; TBD domain
      cl02600
      Location:87 → 135
      HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily

    6. XM_047437155.1 → XP_047293111.1  TANK-binding kinase 1-binding protein 1 isoform X2

    7. XM_005257860.5 → XP_005257917.1  TANK-binding kinase 1-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005257917.1

      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3
      Conserved Domains (2) summary
      TIGR02168
      Location:47 → 332
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12845
      Location:288 → 341
      TBD; TBD domain

    8. XM_047437157.1 → XP_047293113.1  TANK-binding kinase 1-binding protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48555851..48573871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317977.1 → XP_054173952.1  TANK-binding kinase 1-binding protein 1 isoform X2

    2. XM_054317976.1 → XP_054173951.1  TANK-binding kinase 1-binding protein 1 isoform X2

    3. XM_054317979.1 → XP_054173954.1  TANK-binding kinase 1-binding protein 1 isoform X3

    4. XM_054317974.1 → XP_054173949.1  TANK-binding kinase 1-binding protein 1 isoform X2

    5. XM_054317972.1 → XP_054173947.1  TANK-binding kinase 1-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3

    6. XM_054317975.1 → XP_054173950.1  TANK-binding kinase 1-binding protein 1 isoform X2

    7. XM_054317973.1 → XP_054173948.1  TANK-binding kinase 1-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A7MCY6, B2RZG6, O94873, Q14DW3

    8. XM_054317978.1 → XP_054173953.1  TANK-binding kinase 1-binding protein 1 isoform X3

    9. XM_054317980.1 → XP_054173955.1  TANK-binding kinase 1-binding protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A7MCY6.1 GenPept UniProtKB/Swiss-Prot:A7MCY6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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