CDK13 explained

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene.^{[1] [2]}

The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. Some of the cell cycle control kinases are able to phosphorylate proteins that are important for cell differentiation and apoptosis, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such as neurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually large N- and C-termini and is ubiquitously expressed in many tissues. Two alternatively spliced variants are described.^[2]

Clinical significance

Mutations in CDK13 cause CDK13-related disorder. A 2017 study of children with rare developmental disorders found 11 children in the United Kingdom who had a fault in their CDK13 gene.^[3] This fault affected the children's communication and language skills as well as causing learning difficulties.^[4]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Mackenzie LF . Identification of Glu-330 as the catalytic nucleophile of Candida albicans exo-beta-(1,3)-glucanase . J. Biol. Chem. . 272 . 6 . 3161–7 . 1997 . 9013549 . 10.1074/jbc.272.6.3161 . Brooke GS . Cutfield JF . Sullivan . PA . Withers . SG . free.
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . Yoshitomo-Nakagawa K . Maruyama K . Suyama . A . Sugano . S .
• Toward a complete human genome sequence . Genome Res. . 8 . 11 . 1097–108 . 1999 . 9847074 . 10.1101/gr.8.11.1097 . . free .
• Marqués F . A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs . Biochem. Biophys. Res. Commun. . 279 . 3 . 832–7 . 2001 . 11162436 . 10.1006/bbrc.2000.4042 . Moreau JL . Peaucellier G . Lozano . JC . Schatt . P . Picard . A . Callebaut . I . Perret . E . Genevière . AM .
• Nagase T . Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res. . 8 . 2 . 85–95 . 2001 . 11347906 . 10.1093/dnares/8.2.85 . Nakayama M . Nakajima D . Kikuno . R . Ohara . O . free.
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Hillier LW . The DNA sequence of human chromosome 7 . Nature . 424 . 6945 . 157–64 . 2003 . 12853948 . 10.1038/nature01782 . Fulton RS . Fulton LA . Graves . Tina A. . Pepin . Kymberlie H. . Wagner-Mcpherson . Caryn . Layman . Dan . Maas . Jason . Jaeger . Sara . 2003Natur.424..157H . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . Suzuki Y . Nishikawa T . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Brill LM . Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry . Anal. Chem. . 76 . 10 . 2763–72 . 2004 . 15144186 . 10.1021/ac035352d . Salomon AR . Ficarro SB . Mukherji . Mridul . Stettler-Gill . Michelle . Peters . Eric C. .
• Colland F . Functional proteomics mapping of a human signaling pathway . Genome Res. . 14 . 7 . 1324–32 . 2004 . 15231748 . 10.1101/gr.2334104 . 442148 . Jacq X . Trouplin V . Mougin . C . Groizeleau . C . Hamburger . A . Meil . A . Wojcik . J . Legrain . P .
• Beausoleil SA . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . Jedrychowski M . Schwartz D . Elias . JE . Villén . J . Li . J . Cohn . MA . Cantley . LC . Gygi . SP . 2004PNAS..10112130B . free .
• Andersen JS . Nucleolar proteome dynamics . Nature . 433 . 7021 . 77–83 . 2005 . 15635413 . 10.1038/nature03207 . Lam YW . Leung AK . Ong . Shao-En . Lyon . Carol E. . Lamond . Angus I. . Mann . Matthias . 2005Natur.433...77A . 4344740 .
• Rual JF . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . Venkatesan K . Hao T . Hirozane-Kishikawa . Tomoko . Dricot . Amélie . Li . Ning . Berriz . Gabriel F. . Gibbons . Francis D. . Dreze . Matija . 2005Natur.437.1173R . 4427026 .
• Even Y . CDC2L5, a Cdk-like kinase with RS domain, interacts with the ASF/SF2-associated protein p32 and affects splicing in vivo . J. Cell. Biochem. . 99 . 3 . 890–904 . 2007 . 16721827 . 10.1002/jcb.20986 . Durieux S . Escande ML . Lozano . Jean Claude . Peaucellier . Gérard . Weil . Dominique . Genevière . Anne-Marie . 21022091 .
• Tsang HT . A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex . Genomics . 88 . 3 . 333–46 . 2006 . 16730941 . 10.1016/j.ygeno.2006.04.003 . Connell JW . Brown SE . Thompson . Amanda . Reid . Evan . Sanderson . Christopher M. .
• Beausoleil SA . A probability-based approach for high-throughput protein phosphorylation analysis and site localization . Nat. Biotechnol. . 24 . 10 . 1285–92 . 2006 . 16964243 . 10.1038/nbt1240 . Villén J . Gerber SA . Rush . John . Gygi . Steven P . 14294292 .
• Olsen JV . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . Blagoev B . Gnad F . Macek . Boris . Kumar . Chanchal . Mortensen . Peter . Mann . Matthias . free .

Notes and References

1. Lapidot-Lifson Y, Patinkin D, Prody CA, Ehrlich G, Seidman S, Ben-Aziz R, Benseler F, Eckstein F, Zakut H, Soreq H . Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis . Proc Natl Acad Sci U S A . 89 . 2 . 579–83 . Feb 1992 . 1731328 . 48282 . 10.1073/pnas.89.2.579 . free . 1992PNAS...89..579L .
2. Web site: Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller).
3. McRae. Jeremy F.. Clayton. Stephen. Fitzgerald. Tomas W.. Kaplanis. Joanna. Prigmore. Elena. Rajan. Diana. Sifrim. Alejandro. Aitken. Stuart. Akawi. Nadia. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 542. 7642. 433–438. 10.1038/nature21062. 2017. 20.500.11820/a89badba-7288-4be1-b3c5-a9b9e61d920d. 28135719. 6016744. 2017Natur.542..433M .
4. News: Child gene study identifies new developmental disorders. Walsh. Fergus. 2017-01-25. BBC News. en-GB. 2017-01-27.