Serine/threonine-protein kinase TAO1is anenzymethat in humans is encoded by theTAOK1gene.[5][6][7]

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;OMA:TAOK1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
PubMedsearch[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

edit

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

References

edit
  1. ^abcGRCh38: Ensembl release 89: ENSG00000160551Ensembl,May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000017291Ensembl,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.PMID10718198.
  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.PMC204455.PMID14517247.
  7. ^"Entrez Gene: TAOK1 TAO kinase 1".

Further reading

edit