Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

CDK13

From Wikipedia, the free encyclopedia
(Redirected fromCDC2L5)
Protein-coding gene in humans

CDK13
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

5EFQ

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
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for CDK13
Genomic location for CDK13
Band7p14.1Start39,950,121bp[1]
End40,099,580bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for CDK13
Genomic location for CDK13
Band13|13 A2Start17,884,900bp[2]
End17,979,682bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 13: 17.88 – 17.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cyclin dependent kinase 13 is anenzyme that in humans is encoded by theCDK13gene.[5][6]

The protein encoded by this gene is a member of thecyclin-dependentserine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches incell cycle control. Some of the cell cycle control kinases are able tophosphorylate proteins that are important for cell differentiation andapoptosis, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such asneurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually largeN- andC-termini and is ubiquitously expressed in many tissues. Twoalternatively spliced variants are described.[6]

Clinical significance

[edit]

Mutations inCDK13 causeCDK13-related disorder. A 2017 study of children with raredevelopmental disorders found 11 children in the United Kingdom who had a fault in theirCDK13 gene.[7] This fault affected the children's communication and language skills as well as causing learning difficulties.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000065883Ensembl, May 2017
  2. ^abcGRCm38: 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. (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. ^ab"Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller)".
  7. ^Deciphering Developmental Disorders Study (February 2017)."Prevalence and architecture of de novo mutations in developmental disorders".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.{{cite journal}}: CS1 maint: overridden setting (link)
  8. ^Walsh F (2017-01-25)."Child gene study identifies new developmental disorders".BBC News. Retrieved2017-01-27.

External links

[edit]

Further reading

[edit]
Non-specific serine/threonine protein kinases (EC 2.7.11.1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4)
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)
Myosin-heavy-chain kinase (EC 2.7.11.7)
Fas-activated serine/threonine kinase (EC 2.7.11.8)
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)
  • -
IκB kinase (EC 2.7.11.10)
cAMP-dependent protein kinase (EC 2.7.11.11)
cGMP-dependent protein kinase (EC 2.7.11.12)
Protein kinase C (EC 2.7.11.13)
Rhodopsin kinase (EC 2.7.11.14)
Beta adrenergic receptor kinase (EC 2.7.11.15)
G-protein coupled receptor kinases (EC 2.7.11.16)
Ca2+/calmodulin-dependent (EC 2.7.11.17)
Myosin light-chain kinase (EC 2.7.11.18)
Phosphorylase kinase (EC 2.7.11.19)
Elongation factor 2 kinase (EC 2.7.11.20)
Polo kinase (EC 2.7.11.21)
Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)
Polo kinase (EC 2.7.11.21)
Cyclin-dependent kinase (EC 2.7.11.22)
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)
Mitogen-activated protein kinase (EC 2.7.11.24)
MAP3K (EC 2.7.11.25)
Tau-protein kinase (EC 2.7.11.26)
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)
  • -
Tropomyosin kinase (EC 2.7.11.28)
  • -
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)
  • -
Receptor protein serine/threonine kinase (EC 2.7.11.30)
MAP2K
Cyclin
CDK
CDK inhibitor
P53 p63 p73 family
Other
Phases and
checkpoints
Interphase
M phase
Cell cycle checkpoints
Other cellular phases
Portal:
Retrieved from "https://en.wikipedia.org/w/index.php?title=CDK13&oldid=1304827357"
Categories:
Hidden categories:

[8]ページ先頭

©2009-2026 Movatter.jp