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CDK13

From Wikipedia, the free encyclopedia

CDK13
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCDK13, CDC2L, CDC2L5, CHED, hcyclin-dependent kinase 13, cyclin dependent kinase 13, CHDFIDD
External IDsOMIM: 603309; MGI: 1916812; HomoloGene: 135707; GeneCards: CDK13; OMA:CDK13 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 13: 17.88 – 17.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000065883Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041297Ensembl, 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. (Feb 1992). "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. Bibcode:1992PNAS...89..579L. doi:10.1073/pnas.89.2.579. PMC 48282. PMID 1731328.
  6. ^ a b "Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller)".
  7. ^ McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, et al. (2017). "Prevalence and architecture of de novo mutations in developmental disorders" (PDF). Nature. 542 (7642): 433–438. 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.
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Further reading

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