background:
Cell cycle progression is controlled in part by a family of cyclin proteins and cyclin-dependent kinases (Cdks). Cdk proteins work in concert with the cyclins to phosphorylate key substrates involved in each phase of cell cycle progression. Another family of proteins, Cdk inhibitors, also plays a role in regulating the cell cycle by binding to cyclin-Cdk complexes and modulating their activity. CDKL5 (cyclin-dependent kinase-like 5) is a 1030 amino acid protein that belongs to the CMGC Ser/Thr protein kinase family. Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis, CDKL5 is thought to play a role in cell cycle regulation. Defects in CDKL5 are a cause of several disorders, such as X-linked infantile spasm syndrome and Rett syndrome.
Function:
Mediates phosphorylation of MECP2.
Subunit:
Interacts with MECP2.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.
Post-translational modifications:
Autophosphorylated.
DISEASE:
Note=Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15).
Defects in CDKL5 are a cause of epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]; also known as atypical CDKL5-related Rett syndrome. EIEE2 is a severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements.
Similarity:
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Contains 1 protein kinase domain.
Database links:
UniProtKB/Swiss-Prot: O76039.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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