CDK13

CDK13
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5EFQ
Identifiers
Aliases	CDK13, CDC2L, CDC2L5, CHED, hcyclin-dependent kinase 13, cyclin dependent kinase 13, CHDFIDD
External IDs	OMIM: 603309; MGI: 1916812; HomoloGene: 135707; GeneCards: CDK13; OMA:CDK13 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p14.1 Start 39,950,121 bp[1] End 40,099,580 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A2 Start 17,884,900 bp[2] End 17,979,682 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell renal medulla visceral pleura pylorus nipple cardia endothelial cell ventral tegmental area inferior ganglion of vagus nerve parietal pleura Top expressed in genital tubercle tail of embryo spermatocyte Rostral migratory stream hand granulocyte spermatid thymus gastrula neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding kinase activity protein serine/threonine kinase activity protein binding RNA polymerase II CTD heptapeptide repeat kinase activity ATP binding cyclin binding cyclin-dependent protein serine/threonine kinase activity transcription factor binding protein kinase binding RNA binding Cellular component Golgi apparatus nuclear speck nuclear cyclin-dependent protein kinase holoenzyme complex cyclin K-CDK13 complex nucleus extracellular region extracellular space nucleoplasm chromosome cytosol cyclin/CDK positive transcription elongation factor complex ficolin-1-rich granule lumen cyclin-dependent protein kinase holoenzyme complex Biological process hemopoiesis phosphorylation of RNA polymerase II C-terminal domain phosphorylation mRNA processing multicellular organism development protein phosphorylation RNA splicing positive regulation of cell population proliferation viral process alternative mRNA splicing, via spliceosome regulation of mitotic nuclear division transcription elongation from RNA polymerase II promoter neutrophil degranulation positive regulation of transcription by RNA polymerase II negative regulation of stem cell differentiation positive regulation of transcription elongation from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8621 69562 Ensembl ENSG00000065883 ENSMUSG00000041297 UniProt Q14004 Q69ZA1 RefSeq (mRNA) NM_003718 NM_031267 NM_001081058 NM_027118 RefSeq (protein) NP_003709 NP_112557 NP_001074527 NP_081394 Location (UCSC) Chr 7: 39.95 – 40.1 Mb Chr 13: 17.88 – 17.98 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene.^[5][6]

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.^[6]

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.^[7] This fault affected the children's communication and language skills as well as causing learning difficulties.^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000065883 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041297 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lapidot-Lifson Y, Patinkin D, Prody CA, Ehrlich G, Seidman S, Ben-Aziz R, et al. (January 1992). "Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis". Proceedings of the National Academy of Sciences of the United States of America. 89 (2): 579–583. Bibcode:1992PNAS...89..579L. doi:10.1073/pnas.89.2.579. PMC 48282. PMID 1731328.
6. "Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller)".
7. "Prevalence and architecture of de novo mutations in developmental disorders". Nature. 542 (7642): 433–438. February 2017. Bibcode:2017Natur.542..433M. doi:10.1038/nature21062. hdl:20.500.11820/a89badba-7288-4be1-b3c5-a9b9e61d920d. PMC 6016744. PMID 28135719.
8. Walsh F (2017-01-25). "Child gene study identifies new developmental disorders". BBC News. Retrieved 2017-01-27.

External links

• Human CDK13 genome location and CDK13 gene details page in the UCSC Genome Browser.
• Overview of all the structural information available in the PDB for UniProt: Q14004 (Cyclin-dependent kinase 13) at the PDBe-KB.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Mackenzie LF, Brooke GS, Cutfield JF, Sullivan PA, Withers SG (February 1997). "Identification of Glu-330 as the catalytic nucleophile of Candida albicans exo-beta-(1,3)-glucanase". The Journal of Biological Chemistry. 272 (6): 3161–3167. doi:10.1074/jbc.272.6.3161. PMID 9013549.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. November 1998. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Marqués F, Moreau JL, Peaucellier G, Lozano JC, Schatt P, Picard A, et al. (December 2000). "A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs". Biochemical and Biophysical Research Communications. 279 (3): 832–837. doi:10.1006/bbrc.2000.4042. PMID 11162436.
• Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "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 Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, et al. (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–1332. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, et al. (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
• Even Y, Durieux S, Escande ML, Lozano JC, Peaucellier G, Weil D, et al. (October 2006). "CDC2L5, a Cdk-like kinase with RS domain, interacts with the ASF/SF2-associated protein p32 and affects splicing in vivo". Journal of Cellular Biochemistry. 99 (3): 890–904. doi:10.1002/jcb.20986. PMID 16721827. S2CID 21022091.
• Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM (September 2006). "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): 333–346. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983.