cyclin-dependent kinase-like 5; serine/threonine protein kinase 9 (CDKL5, STK9)

Function

• mediates phosphorylation of MECP2
• autophosphorylated

Structure

• belongs to the protein kinase superfamily, CMGC Ser/Thr protein kinase family, CDC2/CDKX subfamily
• contains 1 protein kinase domain

Compartment

nucleus

Expression

• expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas & testis

Pathology

• chromosomal translocation t(X;6)(p22.3;q14) & chromosomal translocation t(X;7)(p22.3;p15) involving CDKL5 are found in patients manifesting early-onset seizures & psychomotor impairment
• defects in CDKL5 are a cause of epileptic encephalopathy early infantile type 2

Notes

• uncertain whether Met-1 or Met-10 is the initiator

More general terms

• serine/threonine kinase
• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6792
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6792
• OMIM: https://mirror.omim.org/entry/300203
• OMIM: https://mirror.omim.org/entry/300672
• UniProt: http://www.uniprot.org/uniprot/O76039.html