UniProt Protein Function: | CDKL5: a protein kinase of the CDKL family. Mutations have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized.Protein type: Protein kinase, CMGC; Kinase, protein; EC 2.7.11.22; Cell cycle regulation; Protein kinase, Ser/Thr (non-receptor); CMGC group; CDKL familyChromosomal Location of Human Ortholog: Xp22Cellular Component: cytoplasm; dendrite cytoplasm; nucleoplasm; nucleusMolecular Function: ATP binding; kinase activity; protein kinase activity; protein serine/threonine kinase activity; Rac GTPase bindingBiological Process: neuron migration; positive regulation of axon extension; positive regulation of dendrite morphogenesis; positive regulation of GTPase activity; protein amino acid autophosphorylation; protein amino acid phosphorylation; regulation of dendrite developmentDisease: Angelman Syndrome; Epileptic Encephalopathy, Early Infantile, 2 |
UniProt Protein Details: | |
NCBI Summary: | This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] |
UniProt Code: | O76039 |
NCBI GenInfo Identifier: | 6175070 |
NCBI Gene ID: | 6792 |
NCBI Accession: | O76039.1 |
UniProt Secondary Accession: | O76039,Q14198, Q5H985, Q8IYC7, Q9UJL6, G9B9X4 |
UniProt Related Accession: | O76039 |
Molecular Weight: | 107,519 Da |
NCBI Full Name: | Cyclin-dependent kinase-like 5 |
NCBI Synonym Full Names: | cyclin dependent kinase like 5 |
NCBI Official Symbol: | CDKL5Â Â |
NCBI Official Synonym Symbols: | ISSX; STK9; EIEE2; CFAP247Â Â |
NCBI Protein Information: | cyclin-dependent kinase-like 5 |
UniProt Protein Name: | Cyclin-dependent kinase-like 5 |
UniProt Synonym Protein Names: | Serine/threonine-protein kinase 9 |
Protein Family: | Cyclin-dependent kinase |
UniProt Gene Name: | CDKL5Â Â |
UniProt Entry Name: | CDKL5_HUMAN |