| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Cyclin-dependent kinase-like 5
|
| http://www.biopax.org/relea... |
CDKL5_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
2.7.11.22,
Serine/threonine-protein kinase 9
|
| http://www.biopax.org/relea... |
FUNCTION: Mediates phosphorylation of MECP2. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. SUBUNIT: Interacts with MECP2. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis. PTM: 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). DISEASE: 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. SIMILARITY: Contains 1 protein kinase domain. CAUTION: It is uncertain whether Met-1 or Met-10 is the initiator. SEQUENCE CAUTION: Sequence=CAA61445.1; Type=Frameshift; Positions=415; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDKL5"; GENE SYNONYMS: STK9. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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