≡

Cyclin Dependent Kinase Like Protein 5 (CDKL5)

[Edit]

STK9; Serine/Threonine Kinase 9

Cyclin Dependent Kinase Like Protein 5 (CDKL5)
CCC P618
HGNC 11411
MGI 1278336
PubMed 21750574
UniProt O76039
Wiki CDKL5
CDKL5 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), The STK9 cDNA predicts a protein product of 1,022 or 1,030 amino acids, depending on which initiating methionine is used. Northern blot analysis of human and mouse tissues detected a transcript larger than 9.5 kb expressed in a variety of tissues, and an abundant 3.5-kb transcript expressed only in testis.STK9 RNA isoform containing exons 1a and 1b (isoform II) is transcribed at very low levels in human fetal brain and testis but not in lymphoblastoid cell lines, whereas the STK9 RNA isoform containing exon 1 is expressed in a wide range of cells, including human fibroblasts and lymphoblastoid cell lines.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclin Dependent Kinase Like Protein 5 (CDKL5) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclin Dependent Kinase Like Protein 5 (CDKL5) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclin Dependent Kinase Like Protein 5 (CDKL5) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclin Dependent Kinase Like Protein 5 (CDKL5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclin Dependent Kinase Like Protein 5 (CDKL5) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cyclin Dependent Kinase Like Protein 5 (CDKL5) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cyclin Dependent Kinase Like Protein 5 (CDKL5) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cyclin Dependent Kinase Like Protein 5 (CDKL5) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cyclin Dependent Kinase Like Protein 5 (CDKL5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cyclin Dependent Kinase Like Protein 5 (CDKL5) ELISA Kit Customized Service Offer
  1. "Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region."Genomics 51:427-433(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation."Am. J. Hum. Genet. 72:1401-1411(2003) [PubMed] [Europe PMC] [Abstract]
  3. "A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain."Hum. Genet. 131:187-200(2012) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  5. "Differential screening leads to novel genetic markers of monocyte to macrophage maturation."J. Leukoc. Biol. 60:540-545(1996) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation."Am. J. Hum. Genet. 75:1079-1093(2004) [PubMed] [Europe PMC] [Abstract]
  7. "CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome."Hum. Mol. Genet. 14:1935-1946(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation."J. Biol. Chem. 281:32048-32056(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  10. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation."Am. J. Hum. Genet. 75:1149-1154(2004) [PubMed] [Europe PMC] [Abstract]
  14. "CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms."J. Med. Genet. 42:103-107(2005) [PubMed] [Europe PMC] [Abstract]
  15. "Early onset seizures and Rett-like features associated with mutations in CDKL5."Eur. J. Hum. Genet. 13:1113-1120(2005) [PubMed] [Europe PMC] [Abstract]
  16. "CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients."J. Med. Genet. 43:729-734(2006) [PubMed] [Europe PMC] [Abstract]
  17. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Patterns of somatic mutation in human cancer genomes." Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
  19. "Key clinical features to identify girls with CDKL5 mutations."Brain 131:2647-2661(2008) [PubMed] [Europe PMC] [Abstract]
  20. "Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy."J. Med. Genet. 45:172-178(2008) [PubMed] [Europe PMC] [Abstract]
  21. "CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy."Neurology 71:997-999(2008) [PubMed] [Europe PMC] [Abstract]
  22. "A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype."Am. J. Med. Genet. A 149:722-725(2009) [PubMed] [Europe PMC] [Abstract]
  23. "Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes."Neurogenetics 10:241-250(2009) [PubMed] [Europe PMC] [Abstract]
  24. "Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients."BMC Med. Genet. 15:24-24(2014) [PubMed] [Europe PMC] [Abstract]