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 Note: - uncertain whether Met-1 or Met-10 is the initiator

General

nuclear protein serine/threonine kinase

Properties

SIZE: entity length = 1030 aa MW = 116 kD COMPARTMENT: cell nucleus MOTIF: kinase domain SITE: 13-297 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 19-27 ATP-binding site NAME: ATP-binding site SITE: 42-42 aspartate residue {D135} Tyr phosphorylation site {Y171} Ser phosphorylation site {S306} Ser phosphorylation site {S375} Ser phosphorylation site {S377} Ser phosphorylation site {S407} Ser phosphorylation site {S476} Ser phosphorylation site {S488} Ser phosphorylation site {S529} Ser phosphorylation site {S646} Ser phosphorylation site {S681} Ser phosphorylation site {S720} Ser phosphorylation site {S726} Ser phosphorylation site {S761} lysine-rich region {784-789} MOTIF: lysine residue (SEVERAL) STATE: active state

Database Correlations

OMIM correlations UniProt O76039 Pfam PF00069 Entrez Gene 6792 Kegg hsa:6792 ENZYME 2.7.11.22