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

Gene ID: 9755, updated on 25-Nov-2021

Summary

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
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
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Genomic context

See TBKBP1 in Genome Data Viewer
Location:
17q21.32
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (47694063..47712063)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45772630..45789429)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene aminopeptidase puromycin sensitive Neighboring gene KPNB1 divergent transcript Neighboring gene karyopherin subunit beta 1 Neighboring gene TBX21 promoter region Neighboring gene T-box transcription factor 21 Neighboring gene oxysterol binding protein like 7

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
GeneReviews: Not available
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

    Status: VALIDATED

    Source sequence(s)
    AC015674
    Conserved Domains (2) summary
    TIGR02168
    Location:47332
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12845
    Location:288341
    TBD; TBD domain
  2. NM_001394756.1NP_001381685.1  TANK-binding kinase 1-binding protein 1

    Status: VALIDATED

    Source sequence(s)
    AC015674
    Conserved Domains (2) summary
    TIGR02168
    Location:47332
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12845
    Location:288341
    TBD; TBD domain
  3. NM_014726.2NP_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
    Related
    ENSP00000354777.3, ENST00000361722.7
    Conserved Domains (2) summary
    TIGR02168
    Location:47332
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12845
    Location:288341
    TBD; TBD domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005257861.4XP_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
    Conserved Domains (2) summary
    TIGR02168
    Location:47332
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12845
    Location:288341
    TBD; TBD domain
  2. XM_017025432.1XP_016880921.1  TANK-binding kinase 1-binding protein 1 isoform X3

    Conserved Domains (2) summary
    pfam12845
    Location:289339
    TBD; TBD domain
    cl02600
    Location:87135
    HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
  3. XM_017025431.1XP_016880920.1  TANK-binding kinase 1-binding protein 1 isoform X2

    Conserved Domains (2) summary
    pfam12845
    Location:290340
    TBD; TBD domain
    cl00087
    Location:106136
    HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
  4. XM_005257860.4XP_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
    Conserved Domains (2) summary
    TIGR02168
    Location:47332
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12845
    Location:288341
    TBD; TBD domain

RNA

  1. XR_001752705.1 RNA Sequence

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