TAOK1
Identifiers
Aliases	TAOK1, KFC-B, MAP3K16, MARKK, PSK-2, PSK2, TAO1, hKFC-B, hTAO kinase 1, DDIB
External IDs	OMIM: 610266 MGI: 1914490 HomoloGene: 27041 GeneCards: TAOK1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q11.2 Start 29,390,363 bp[1] End 29,551,903 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B5 Start 77,419,988 bp[2] End 77,498,641 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus callosum globus pallidus internal globus pallidus ventral tegmental area subthalamic nucleus sural nerve inferior ganglion of vagus nerve pons external globus pallidus parietal pleura Top expressed in ventromedial nucleus amygdala lateral geniculate nucleus olfactory tubercle mammillary body habenula inferior colliculus globus pallidus cingulate gyrus primary motor cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding kinase activity protein serine/threonine kinase activity protein binding ATP binding MAP kinase kinase kinase activity alpha-tubulin binding protein serine/threonine kinase activator activity tau protein binding beta-tubulin binding tau-protein kinase activity Cellular component cytoplasm cytosol extracellular exosome nucleus microtubule cytoskeleton perinuclear region of cytoplasm Biological process phosphorylation execution phase of apoptosis positive regulation of JNK cascade cellular response to DNA damage stimulus protein phosphorylation spindle checkpoint signaling regulation of cytoskeleton organization DNA repair positive regulation of stress-activated MAPK cascade apoptotic process sister chromatid cohesion MAPK cascade regulation of mitotic cell cycle nervous system development regulation of apoptotic process microtubule cytoskeleton organization negative regulation of microtubule depolymerization mitotic G2 DNA damage checkpoint signaling signal transduction stress-activated protein kinase signaling cascade activation of protein kinase activity regulation of actin cytoskeleton organization protein autophosphorylation neuron cellular homeostasis regulation of microtubule cytoskeleton organization positive regulation of protein acetylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57551 216965 Ensembl ENSG00000160551 ENSMUSG00000017291 UniProt Q7L7X3 Q5F2E8 RefSeq (mRNA) NM_020791 NM_025142 NM_144825 NM_001364133 NM_001364134 RefSeq (protein) NP_065842 NP_079418 NP_659074 NP_001351062 NP_001351063 Location (UCSC) Chr 17: 29.39 – 29.55 Mb Chr 11: 77.42 – 77.5 Mb PubMed search [3] [4]
Wikidata
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Serine/threonine-protein kinase TAO1 is an enzyme that in humans is encoded by the TAOK1 gene.^[5][6][7]

Clinical significance

Mutations of the TAOK1 gene cause developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB), a condition first described in 2019.