TBK1 (TANK binding kinase 1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
29110 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
TANK binding kinase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
TBK1 |
SynonymsGene synonyms aliases
|
AIARV, FTDALS4, IIAE8, NAK, T2K |
ChromosomeChromosome number
|
12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q14.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitinat |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs55824172 |
C>G,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs142030898 |
C>T |
Other, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs748112833 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs755950225 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs756751089 |
A>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs767898276 |
G>A |
Pathogenic |
Splice donor variant |
rs876657404 |
TTAA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs876657405 |
TG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs876657406 |
T>C |
Pathogenic |
Splice donor variant |
rs905184241 |
C>G |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1010930015 |
A>C |
Risk-factor |
Missense variant, non coding transcript variant, coding sequence variant |
rs1027249002 |
C>A,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs1064797170 |
C>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1328949478 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs1341055534 |
G>A |
Pathogenic |
Splice donor variant |
rs1402092579 |
AAG>- |
Pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant |
rs1555202947 |
G>C |
Risk-factor |
Missense variant, non coding transcript variant, coding sequence variant |
rs1555203557 |
A>G |
Risk-factor |
Missense variant, non coding transcript variant, coding sequence variant |
rs1555204731 |
GA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1565814492 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1565825132 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs1592350883 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1592350887 |
G>A |
Pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant |
rs1592362719 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0002218 |
Process |
Activation of innate immune response |
IEA |
|
GO:0003676 |
Function |
Nucleic acid binding |
IEA |
|
GO:0004672 |
Function |
Protein kinase activity |
TAS |
|
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IBA |
21873635 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IDA |
25636800, 25803835, 27103069 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
TAS |
21042276 |
GO:0005515 |
Function |
Protein binding |
IPI |
14743216, 15841462, 16281057, 16306936, 17568778, 17599067, 18307994, 18583960, 18636086, 18724357, 19153231, 19380580, 19416887, 19419966, 19433799, 20098747, 20174559, 20562859, 20628368, 21813773, 21903422, 21931555, 21988832, 22000020, 22939624, 23096996, 23414517, 23542348, 240 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
21813773, 29251827 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006468 |
Process |
Protein phosphorylation |
IDA |
27103069 |
GO:0006954 |
Process |
Inflammatory response |
TAS |
21042276 |
GO:0007249 |
Process |
I-kappaB kinase/NF-kappaB signaling |
TAS |
21042276 |
GO:0009615 |
Process |
Response to virus |
TAS |
21042276 |
GO:0010008 |
Component |
Endosome membrane |
TAS |
|
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0016239 |
Process |
Positive regulation of macroautophagy |
IDA |
27103069 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
IBA |
21873635 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
IDA |
25636800, 25803835, 27103069 |
GO:0018107 |
Process |
Peptidyl-threonine phosphorylation |
IDA |
25636800, 27103069 |
GO:0019903 |
Function |
Protein phosphatase binding |
ISS |
|
GO:0032479 |
Process |
Regulation of type I interferon production |
IDA |
25636800 |
GO:0032479 |
Process |
Regulation of type I interferon production |
TAS |
|
GO:0032480 |
Process |
Negative regulation of type I interferon production |
TAS |
|
GO:0032481 |
Process |
Positive regulation of type I interferon production |
TAS |
|
GO:0032606 |
Process |
Type I interferon production |
TAS |
21042276 |
GO:0032727 |
Process |
Positive regulation of interferon-alpha production |
IDA |
16127453 |
GO:0032728 |
Process |
Positive regulation of interferon-beta production |
IDA |
16127453 |
GO:0033138 |
Process |
Positive regulation of peptidyl-serine phosphorylation |
NAS |
22412986 |
GO:0035666 |
Process |
TRIF-dependent toll-like receptor signaling pathway |
TAS |
|
GO:0042802 |
Function |
Identical protein binding |
IEA |
|
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IEP |
12761501 |
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0044565 |
Process |
Dendritic cell proliferation |
IEA |
|
GO:0045087 |
Process |
Innate immune response |
IDA |
25636800 |
GO:0045087 |
Process |
Innate immune response |
TAS |
21042276 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IDA |
16127453 |
GO:0050830 |
Process |
Defense response to Gram-positive bacterium |
IEA |
|
GO:0051219 |
Function |
Phosphoprotein binding |
IPI |
14530355 |
GO:0051607 |
Process |
Defense response to virus |
IEA |
|
GO:0060340 |
Process |
Positive regulation of type I interferon-mediated signaling pathway |
IEA |
|
GO:0071345 |
Process |
Cellular response to cytokine stimulus |
TAS |
|
GO:0106310 |
Function |
Protein serine kinase activity |
IEA |
|
GO:0106311 |
Function |
Protein threonine kinase activity |
IEA |
|
GO:1901214 |
Process |
Regulation of neuron death |
NAS |
25803835 |
GO:1904417 |
Process |
Positive regulation of xenophagy |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9UHD2 |
Protein name |
Serine/threonine-protein kinase TBK1 (EC 2.7.11.1) (NF-kappa-B-activating kinase) (T2K) (TANK-binding kinase 1) |
Protein function |
Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:11839743, PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed:15367631, PubMed:15485837, PubMed:18583960, |
PDB |
4EFO
,
4EUT
,
4EUU
,
4IM0
,
4IM2
,
4IM3
,
4IW0
,
4IWO
,
4IWP
,
4IWQ
,
5EOA
,
5EOF
,
5EP6
,
5W5V
,
6BNY
,
6BOD
,
6BOE
,
6CQ0
,
6CQ4
,
6CQ5
,
6NT9
,
6O8B
,
6RSR
,
6RST
,
6RSU
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00069 |
Pkinase |
9 → 299 |
Protein kinase domain |
Domain |
PF18396 |
TBK1_ULD |
308 → 395 |
TANK binding kinase 1 ubiquitin-like domain |
Domain |
PF18394 |
TBK1_CCD1 |
400 → 655 |
TANK-binding kinase 1 coiled-coil domain 1 |
Coiled-coil |
|
Sequence |
|
Sequence length |
729 |
Interactions |
View interactions |
|
|