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

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; 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
The TBK1-TBKBP1 axis facilitates tumour-mediated immunosuppression.
Title: TBKBP1 and TBK1 form a growth factor signalling axis mediating immunosuppression and tumourigenesis.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14964 (e-PCR)
- UniSTS:26759

ProSAPiP2__5594 (e-PCR)
- UniSTS:463841

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)

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
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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

47694063..47712063

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437156.1 → XP_047293112.1 TANK-binding kinase 1-binding protein 1 isoform X2
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
XM_047437154.1 → XP_047293110.1 TANK-binding kinase 1-binding protein 1 isoform X2
XM_047437153.1 → XP_047293109.1 TANK-binding kinase 1-binding protein 1 isoform X2
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
XM_047437155.1 → XP_047293111.1 TANK-binding kinase 1-binding protein 1 isoform X2
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
XM_047437157.1 → XP_047293113.1 TANK-binding kinase 1-binding protein 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

48555851..48573871

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317977.1 → XP_054173952.1 TANK-binding kinase 1-binding protein 1 isoform X2
XM_054317976.1 → XP_054173951.1 TANK-binding kinase 1-binding protein 1 isoform X2
XM_054317979.1 → XP_054173954.1 TANK-binding kinase 1-binding protein 1 isoform X3
XM_054317974.1 → XP_054173949.1 TANK-binding kinase 1-binding protein 1 isoform X2
XM_054317972.1 → XP_054173947.1 TANK-binding kinase 1-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

A7MCY6, B2RZG6, O94873, Q14DW3
XM_054317975.1 → XP_054173950.1 TANK-binding kinase 1-binding protein 1 isoform X2
XM_054317973.1 → XP_054173948.1 TANK-binding kinase 1-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

A7MCY6, B2RZG6, O94873, Q14DW3
XM_054317978.1 → XP_054173953.1 TANK-binding kinase 1-binding protein 1 isoform X3
XM_054317980.1 → XP_054173955.1 TANK-binding kinase 1-binding protein 1 isoform X4