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    TAOK1 TAO kinase 1 [ Homo sapiens (human) ]

    Gene ID: 57551, updated on 7-Jan-2024

    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 JNK cascade. Located in microtubule cytoskeleton and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 14.1), thyroid (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TAOK1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29390363..29551903)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30333099..30494790)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27717381..27878921)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L35a pseudogene 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11972 Neighboring gene Sharpr-MPRA regulatory region 6423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11977 Neighboring gene RNA, U4 small nuclear 34, pseudogene Neighboring gene microRNA 4523 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27735271-27735770 Neighboring gene translation machinery-associated protein 7-like Neighboring gene RNA, U6 small nuclear 711, pseudogene Neighboring gene RNA, U6 small nuclear 1034, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11978 Neighboring gene MPRA-validated peak2781 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27853602-27854102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27854103-27854603 Neighboring gene uncharacterized LOC124904148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27896259-27896759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8376 Neighboring gene abhydrolase domain containing 15 Neighboring gene tumor protein p53 inducible protein 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27911138-27911952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27911953-27912765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27914948-27915847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27916747-27917646 Neighboring gene GIT ArfGAP 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    A genome-wide association study identifies three loci associated with mean platelet volume.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14314, KIAA1361

    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 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 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 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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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

    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
    NP_079418.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_020791.4NP_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:442877
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd06635
      Location:2318
      STKc_TAO1; Catalytic domain of the Serine/Threonine Kinase, Thousand-and-One Amino acids 1
    2. NM_025142.1NP_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:2318
      STKc_TAO1; Catalytic domain of the Serine/Threonine Kinase, Thousand-and-One Amino acids 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29390363..29551903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30333099..30494790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)