Description: Homo sapiens cyclin dependent kinase like 5 (CDKL5), transcript variant III, mRNA. (from RefSeq NM_001323289) RefSeq Summary (NM_001323289): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000623535.2 Gencode Gene: ENSG00000008086.13 Transcript (Including UTRs) Position: hg38 chrX:18,425,608-18,640,196 Size: 214,589 Total Exon Count: 18 Strand: + Coding Region Position: hg38 chrX:18,507,097-18,628,757 Size: 121,661 Coding Exon Count: 17
ID:CDKL5_HUMAN DESCRIPTION: RecName: Full=Cyclin-dependent kinase-like 5; EC=126.96.36.199; AltName: Full=Serine/threonine-protein kinase 9; 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";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O76039
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.