TAOK1 TAO kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAOK1provided by HGNC
Official Full Name: TAO kinase 1provided by HGNC
Primary source: HGNC:HGNC:29259
See related: Ensembl:ENSG00000160551 MIM:610266; AllianceGenome:HGNC:29259
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: DDIB; PSK2; TAO1; KFC-B; MARKK; PSK-2; hKFC-B; hTAOK1; MAP3K16
Summary: Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in microtubule cytoskeleton and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in brain (RPKM 14.1), thyroid (RPKM 11.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (29390363..29551903)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (30333099..30494790)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (27717381..27878921)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

lincRNA00907 promotes NASH progression by targeting miRNA-942-5p/TAOK1.
Title: lincRNA00907 promotes NASH progression by targeting miRNA-942-5p/TAOK1.
Silencing of STE20-type kinase TAOK1 confers protection against hepatocellular lipotoxicity through metabolic rewiring.
Title: Silencing of STE20-type kinase TAOK1 confers protection against hepatocellular lipotoxicity through metabolic rewiring.
Exosomal circTAOK1 contributes to diabetic kidney disease progression through regulating SMAD3 expression by sponging miR-520h.
Title: Exosomal circTAOK1 contributes to diabetic kidney disease progression through regulating SMAD3 expression by sponging miR-520h.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Title: Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
[The role and mechanism of lncRNA C9ORF139 targeting miR-24-3P/TAOK1 in regulating the proliferation of acute myeloid leukemia cells].
Title: [The role and mechanism of lncRNA C9ORF139 targeting miR-24-3P/TAOK1 in regulating the proliferation of acute myeloid leukemia cells].
miR-381-abundant small extracellular vesicles derived from kartogenin-preconditioned mesenchymal stem cells promote chondrogenesis of MSCs by targeting TAOK1.
Title: miR-381-abundant small extracellular vesicles derived from kartogenin-preconditioned mesenchymal stem cells promote chondrogenesis of MSCs by targeting TAOK1.
Variants in TAOK1 Cause Neurodevelopmental Disorders.
Title: De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
These results demonstrate that TAOK1 is a negative regulator of IL-17 signaling and that it may have therapeutic utility as a target for the treatment of IL-17-associated inflammatory disorders.
Title: TAOK1 negatively regulates IL-17-mediated signaling and inflammation.
we characterize a compound that inhibits TAOK1 and TAOK2 activity with IC50 values of 11 to 15 nmol/L, is ATP-competitive, and targets these kinases selectively. TAOK inhibition or depletion in centrosome-amplified SKBR3 or BT549 breast cancer cell models increases the mitotic population, the percentages of mitotic cells displaying amplified centrosomes and multipolar spindles, induces cell death, and inhibits cell growt
Title: Targeting TAO Kinases Using a New Inhibitor Compound Delays Mitosis and Induces Mitotic Cell Death in Centrosome Amplified Breast Cancer Cells.
this study reveals a protective role for miR-706 by blocking the oxidative stress-induced activation of PKCalpha/TAOK1. Our results further identify a major implication for miR-706 in preventing hepatic fibrogenesis and suggest that miR-706 may be a suitable molecular target for anti-fibrosis therapy.
Title: miR-706 inhibits the oxidative stress-induced activation of PKCα/TAOK1 in liver fibrogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Associated conditions

Description	Tests
Developmental delay with or without intellectual impairment or behavioral abnormalities MedGen: C5562004 OMIM: 619575 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-06-28) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-06-28) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies three loci associated with mean platelet volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of TAO kinase 1 (TAOK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH103996 (e-PCR)
- UniSTS:98321

Cdy1df02 (e-PCR)
- UniSTS:25112

L17705 (e-PCR)
- UniSTS:66091

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D22S1584 (e-PCR)
- UniSTS:473695

D17S1841 (e-PCR), detects polymorphism
- UniSTS:22372

D1S1423 (e-PCR)
- UniSTS:149619

D2S1254 (e-PCR)
- UniSTS:24950

G29217 (e-PCR)
- UniSTS:80762

D17S1136 (e-PCR)
- UniSTS:473214

D11S3732 (e-PCR)
- UniSTS:152962

SHGC-32000 (e-PCR)
- UniSTS:57480

RH12393 (e-PCR)
- UniSTS:77965

SHGC-146905 (e-PCR)
- UniSTS:175502

L17877 (e-PCR)
- UniSTS:61334

L17971 (e-PCR)
- UniSTS:43966

RH47925 (e-PCR)
- UniSTS:84423

GDB:631813 (e-PCR)
- UniSTS:158430

D3S1673 (e-PCR)
- UniSTS:148450

D17S1699 (e-PCR)
- UniSTS:153852

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine kinase activator activity	TAS Traceable Author Statement more info	PubMed
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed
enables tau-protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables transferase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein acetylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress-activated MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of stress-activated MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein phosphorylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in microtubule cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
located_in perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: serine/threonine-protein kinase TAO1

Names: MARK Kinase; STE20-like kinase PSK2; kinase from chicken homolog B; microtubule affinity regulating kinase kinase; prostate-derived STE20-like kinase 2; prostate-derived sterile 20-like kinase 2; serine/threonine protein kinase TAO1 homolog; thousand and one amino acid protein 1; thousand and one amino acid protein kinase 1

NP_065842.1

EC 2.7.11.1

NP_079418.1

EC 2.7.11.1

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_020791.4 → NP_065842.1 serine/threonine-protein kinase TAO1 isoform 1

See identical proteins and their annotated locations for NP_065842.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC068025, AC090698, BC133039, CK300429

Consensus CDS

CCDS32601.1

UniProtKB/Swiss-Prot

A2RUT8, B7ZLV6, Q7L7X3, Q96L75, Q9H2K7, Q9H7S5, Q9P2I6

Related

ENSP00000261716.3, ENST00000261716.8

Conserved Domains (2) summary

COG0419
Location:442 → 877

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

cd06635
Location:2 → 318

STKc_TAO1; Catalytic domain of the Serine/Threonine Kinase, Thousand-and-One Amino acids 1
NM_025142.1 → NP_079418.1 serine/threonine-protein kinase TAO1 isoform 2

See identical proteins and their annotated locations for NP_079418.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC068025, AC090698, BC144067, CK300429

Consensus CDS

CCDS56024.1

UniProtKB/Swiss-Prot

Q7L7X3

Related

ENSP00000438819.1, ENST00000536202.1

Conserved Domains (1) summary

cd06635
Location:2 → 318

STKc_TAO1; Catalytic domain of the Serine/Threonine Kinase, Thousand-and-One Amino acids 1