TAOK1
Identifiers
AliasesTAOK1, KFC-B, MAP3K16, MARKK, PSK-2, PSK2, TAO1, hKFC-B, hTAO kinase 1, DDIB
External IDsOMIM: 610266 MGI: 1914490 HomoloGene: 27041 GeneCards: TAOK1
Orthologs
SpeciesHumanMouse
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 MbChr 11: 77.42 – 77.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000160551 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000017291 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Apr 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
  6. Timm T, Li XY, Biernat J, Jiao J, Mandelkow E, Vandekerckhove J, Mandelkow EM (Sep 2003). "MARKK, a Ste20-like kinase, activates the polarity-inducing kinase MARK/PAR-1". EMBO J. 22 (19): 5090–101. doi:10.1093/emboj/cdg447. PMC 204455. PMID 14517247.
  7. "Entrez Gene: TAOK1 TAO kinase 1".

Further reading


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