ENSG00000183735


Homo sapiens

Features
Gene ID: ENSG00000183735
  
Biological name :TBK1
  
Synonyms : Q9UHD2 / TANK binding kinase 1 / TBK1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q14.2
Gene start: 64451880
Gene end: 64502108
  
Corresponding Affymetrix probe sets: 218520_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000329967
Ensembl peptide - ENSP00000444428
Ensembl peptide - ENSP00000445628
Ensembl peptide - ENSP00000445834
NCBI entrez gene - 29110     See in Manteia.
OMIM - 604834
RefSeq - XM_005268810
RefSeq - NM_013254
RefSeq - XM_005268809
RefSeq Peptide - NP_037386
swissprot - F5GZI4
swissprot - Q9UHD2
swissprot - F5H1A3
swissprot - F5H206
Ensembl - ENSG00000183735
  
Related genetic diseases (OMIM): 616439 - Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439
  617900 - {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tbk1ENSDARG00000103095Danio rerio
 TBK1ENSGALG00000009840Gallus gallus
 Tbk1ENSMUSG00000020115Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilonENSG0000026352848
IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit betaENSG0000010436520
CHUK / O15111 / conserved helix-loop-helix ubiquitous kinaseENSG0000021334119
ULK2 / Q8IYT8 / unc-51 like autophagy activating kinase 2ENSG0000008329017
ULK1 / O75385 / unc-51 like autophagy activating kinase 1ENSG0000017716916
ULK3 / Q6PHR2 / unc-51 like kinase 3ENSG0000014047412


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002218 activation of innate immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling TAS
 biological_processGO:0009615 response to virus TAS
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016239 positive regulation of macroautophagy IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IDA
 biological_processGO:0032479 regulation of type I interferon production TAS
 biological_processGO:0032480 negative regulation of type I interferon production TAS
 biological_processGO:0032481 positive regulation of type I interferon production TAS
 biological_processGO:0032606 type I interferon production TAS
 biological_processGO:0032727 positive regulation of interferon-alpha production IDA
 biological_processGO:0032728 positive regulation of interferon-beta production IDA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation NAS
 biological_processGO:0035666 TRIF-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
 biological_processGO:0044565 dendritic cell proliferation IEA
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045359 positive regulation of interferon-beta biosynthetic process IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050830 defense response to Gram-positive bacterium IEA
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0071345 cellular response to cytokine stimulus TAS
 biological_processGO:1901214 regulation of neuron death NAS
 biological_processGO:1904417 positive regulation of xenophagy IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016235 aggresome IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IPI


Pathways (from Reactome)
Pathway description
IRF3 mediated activation of type 1 IFN
Regulation of innate immune responses to cytosolic DNA
STAT6-mediated induction of chemokines
IRF3-mediated induction of type I IFN
Interleukin-37 signaling
TICAM1-dependent activation of IRF3/IRF7
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
Negative regulators of DDX58/IFIH1 signaling
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000734 Disinhibition 
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 HP:0000739 Anxiety 
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 HP:0000741 Apathy 
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 HP:0000751 Personality changes 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001283 Bulbar palsy "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002145 Frontotemporal dementia 
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 HP:0002180 Neurodegeneration 
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 HP:0002300 Mutism 
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 HP:0002366 Lower motor neuron signs 
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 HP:0002380 Fasciculations "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators]
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 HP:0002463 Language impairment 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003676 Progressive disorder 
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 HP:0003812 Phenotypic variability 
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / reaction / complex
 ENSG00000136560 TANK / Q92844 / TRAF family member associated NFKB activator  / reaction / complex
 ENSG00000115267 IFIH1 / Q9BYX4 / interferon induced with helicase C domain 1  / reaction / complex
 ENSG00000126456 IRF3 / Q14653 / interferon regulatory factor 3  / complex / reaction
 ENSG00000181481 Q8IUD6 / RNF135 / ring finger protein 135  / reaction / complex
 ENSG00000183735 TBK1 / Q9UHD2 / TANK binding kinase 1  / reaction / complex
 ENSG00000263528 IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilon  / complex / reaction
 ENSG00000243414 Q86XR7 / TICAM2 / toll like receptor adaptor molecule 2  / reaction / complex
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000160505 NLRP4 / Q96MN2 / NLR family pyrin domain containing 4  / reaction / complex
 ENSG00000185507 IRF7 / Q92985 / interferon regulatory factor 7  / complex / reaction
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / complex / reaction
 ENSG00000166888 STAT6 / P42226 / signal transducer and activator of transcription 6  / reaction / complex
 ENSG00000107201 DDX58 / O95786 / DExD/H-box helicase 58  / complex / reaction
 ENSG00000164342 TLR3 / O15455 / toll like receptor 3  / complex / reaction
 ENSG00000184584 Q86WV6 / TMEM173 / transmembrane protein 173  / reaction / complex
 ENSG00000088888 MAVS / Q7Z434 / mitochondrial antiviral signaling protein  / complex / reaction
 ENSG00000106052 Q86VP1 / TAX1BP1 / Tax1 binding protein 1  / complex / reaction
 ENSG00000110042 DTX4 / Q9Y2E6 / deltex E3 ubiquitin ligase 4  / reaction / complex
 ENSG00000131323 TRAF3 / Q13114 / TNF receptor associated factor 3  / reaction / complex
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / reaction / complex
 ENSG00000124256 ZBP1 / Q9H171 / Z-DNA binding protein 1  / complex / reaction
 ENSG00000052723 SIKE1 / Q9BRV8 / suppressor of IKBKE 1  / complex
 ENSG00000127666 Q8IUC6 / TICAM1 / toll like receptor adaptor molecule 1  / reaction / complex
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / complex / reaction
 ENSG00000118503 P21580 / TNFAIP3 / TNF alpha induced protein 3  / complex / reaction






 

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