Human Gene TAOK1 (uc002hdz.2)
  Description: Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr17:27,717,943-27,878,921 Size: 160,979 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr17:27,778,567-27,870,040 Size: 91,474 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:27,717,943-27,878,921)mRNA (may differ from genome)Protein (1001 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TAOK1_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein kinase TAO1; EC=2.7.11.1; AltName: Full=Kinase from chicken homolog B; Short=hKFC-B; AltName: Full=MARK Kinase; Short=MARKK; AltName: Full=Prostate-derived sterile 20-like kinase 2; Short=PSK-2; Short=PSK2; Short=Prostate-derived STE20-like kinase 2; AltName: Full=Thousand and one amino acid protein kinase 1; Short=TAOK1; Short=hTAOK1;
FUNCTION: Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of MAP2K3 and MAP2K6. Acts as a regulator of cytoskeleton stability by phosphorylating 'Thr-208' of MARK2, leading to activate MARK2 kinase activity and subsequent phosphorylation and detachment of MAPT/TAU from microtubules. Also acts as a regulator of apoptosis: regulates apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation via activation of the MAPK8/JNK cascade.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
ENZYME REGULATION: Serine/threonine-protein kinase activity is inhibited by SPRED1.
SUBUNIT: Self-associates. Interacts with MAP2K3 (By similarity). Interacts with SPRED1 and TESK1. Interacts with MAP3K7.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Highly expressed in the testis, and to a lower extent also expressed in brain, placenta, colon and skeletal muscle.
INDUCTION: In response to DNA damage.
PTM: Proteolytically processed by caspase-3 (CASP3).
PTM: Autophosphorylated (By similarity). Phosphorylated by ATM in response to DNA damage. Phosphorylated by LRRK2.
SIMILARITY: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
SIMILARITY: Contains 1 protein kinase domain.
CAUTION: Was initially thought to play a role in the spindle checkpoint (PubMed:17417629). However, it was later shown that it is not the case and that phenotypes initially observed are the cause of the siRNA used that has an off-target effect resulting in MAD2L1 inhibition (PubMed:19904549 and PubMed:20162290).
SEQUENCE CAUTION: Sequence=BAA92599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TAOK1
CDC HuGE Published Literature: TAOK1
Positive Disease Associations: mean platelet volume , Platelet Count
Related Studies:
  1. mean platelet volume
    Soranzo ,et al. 2009, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium, Nature genetics 2009 41- 11 : 1182-90. [PubMed 19820697]
  2. mean platelet volume
    Meisinger ,et al. 2008, A genome-wide association study identifies three loci associated with mean platelet volume, American journal of human genetics 2009 84- 1 : 66-71. [PubMed 19110211]
  3. Platelet Count
    Christian Gieger et al. Nature 2011, New gene functions in megakaryopoiesis and platelet formation., Nature. [PubMed 22139419]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TAOK1
Diseases sorted by gene-association score: chromosome 17q11.2 deletion syndrome, 1.4-mb (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.10 RPKM in Nerve - Tibial
Total median expression: 371.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.80194-0.308 Picture PostScript Text
3' UTR -2355.958881-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on Q7L7X3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004709 MAP kinase kinase kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0043539 protein serine/threonine kinase activator activity

Biological Process:
GO:0000186 activation of MAPKK activity
GO:0000187 activation of MAPK activity
GO:0006281 DNA repair
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0007095 mitotic G2 DNA damage checkpoint
GO:0007257 activation of JUN kinase activity
GO:0007346 regulation of mitotic cell cycle
GO:0007399 nervous system development
GO:0016310 phosphorylation
GO:0032874 positive regulation of stress-activated MAPK cascade
GO:0032956 regulation of actin cytoskeleton organization
GO:0042981 regulation of apoptotic process
GO:0046330 positive regulation of JNK cascade
GO:0046777 protein autophosphorylation
GO:0051493 regulation of cytoskeleton organization
GO:0070507 regulation of microtubule cytoskeleton organization
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB037782 - Homo sapiens KIAA1361 mRNA for KIAA1361 protein.
BC133039 - Homo sapiens TAO kinase 1, mRNA (cDNA clone MGC:164670 IMAGE:40147061), complete cds.
BC144067 - Homo sapiens TAO kinase 1, mRNA (cDNA clone MGC:177604 IMAGE:9052587), complete cds.
AY049015 - Homo sapiens serine/threonine kinase TAO1 mRNA, complete cds.
AB385456 - Synthetic construct DNA, clone: pF1KA1361, Homo sapiens TAOK1 gene for serine/threonine-protein kinase TAO1, complete cds, without stop codon, in Flexi system.
AF263312 - Homo sapiens STE20-like kinase mRNA, partial cds.
JD156409 - Sequence 137433 from Patent EP1572962.
JD235373 - Sequence 216397 from Patent EP1572962.
JD332618 - Sequence 313642 from Patent EP1572962.
JD373514 - Sequence 354538 from Patent EP1572962.
AK024376 - Homo sapiens cDNA FLJ14314 fis, clone PLACE3000350, weakly similar to SERINE/THREONINE-PROTEIN KINASE SULU (EC 2.7.1.-).
JD555265 - Sequence 536289 from Patent EP1572962.
JD438540 - Sequence 419564 from Patent EP1572962.
JD058726 - Sequence 39750 from Patent EP1572962.
JD551413 - Sequence 532437 from Patent EP1572962.
JD551464 - Sequence 532488 from Patent EP1572962.
JD098955 - Sequence 79979 from Patent EP1572962.
JD059539 - Sequence 40563 from Patent EP1572962.
JD355759 - Sequence 336783 from Patent EP1572962.
JD305898 - Sequence 286922 from Patent EP1572962.
JD356861 - Sequence 337885 from Patent EP1572962.
BC032793 - Homo sapiens TAO kinase 1, mRNA (cDNA clone IMAGE:3884627).
JD168658 - Sequence 149682 from Patent EP1572962.
JD092484 - Sequence 73508 from Patent EP1572962.
JD304893 - Sequence 285917 from Patent EP1572962.
JD306741 - Sequence 287765 from Patent EP1572962.
JD059339 - Sequence 40363 from Patent EP1572962.
JD199149 - Sequence 180173 from Patent EP1572962.
JD229662 - Sequence 210686 from Patent EP1572962.
JD326478 - Sequence 307502 from Patent EP1572962.
BC037740 - Homo sapiens cDNA clone IMAGE:5263531.
FW340071 - Screening.
BC051737 - Homo sapiens cDNA clone IMAGE:4812621.
BC047652 - Homo sapiens cDNA clone IMAGE:5259584.
BC037535 - Homo sapiens cDNA clone IMAGE:5274219.
AK025902 - Homo sapiens cDNA: FLJ22249 fis, clone HRC02674.
BC062764 - Homo sapiens cDNA clone IMAGE:4285619, partial cds.
BC024166 - Homo sapiens, clone IMAGE:4083202, mRNA.
AL833649 - Homo sapiens mRNA; cDNA DKFZp667I1220 (from clone DKFZp667I1220).
AL110163 - Homo sapiens mRNA; cDNA DKFZp586H0324 (from clone DKFZp586H0324).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q7L7X3 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A2RUT8, B7ZLV6, KIAA1361, MAP3K16, MARKK, NM_020791, NP_065842, Q7L7X3, Q96L75, Q9H2K7, Q9H7S5, Q9P2I6, TAOK1_HUMAN
UCSC ID: uc002hdz.2
RefSeq Accession: NM_020791
Protein: Q7L7X3 (aka TAOK1_HUMAN)
CCDS: CCDS32601.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020791.2
exon count: 20CDS single in 3' UTR: no RNA size: 12096
ORF size: 3006CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6114.50frame shift in genome: no % Coverage: 99.88
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.