CHKA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCHKA, CHK, CK, CKI, EK, choline kinase alpha
External IDsOMIM: 118491 MGI: 107760 HomoloGene: 88575 GeneCards: CHKA
EC number2.7.1.82
Orthologs
SpeciesHumanMouse
Entrez

1119

12660

Ensembl

ENSG00000110721

ENSMUSG00000024843

UniProt

P35790

O54804

RefSeq (mRNA)

NM_001025566
NM_001271496
NM_013490

RefSeq (protein)

NP_001258425
NP_038518

Location (UCSC)Chr 11: 68.05 – 68.12 MbChr 19: 3.85 – 3.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Choline kinase alpha is an enzyme that in humans is encoded by the CHKA gene.[5][6][7]

The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene.[7]

In melanocytic cells CHKA gene expression may be regulated by MITF.[8]

Clinical significance

Mutations of the CHKA gene cause a neurodevelopmental disorder with epilepsy and microcephaly.[9]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000110721 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024843 - 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. Hosaka K, Tanaka S, Nikawa J, Yamashita S (Aug 1992). "Cloning of a human choline kinase cDNA by complementation of the yeast cki mutation". FEBS Lett. 304 (2–3): 229–32. doi:10.1016/0014-5793(92)80625-Q. PMID 1618328. S2CID 25275208.
  6. Aoyama C, Liao H, Ishidate K (Mar 2004). "Structure and function of choline kinase isoforms in mammalian cells". Prog Lipid Res. 43 (3): 266–81. doi:10.1016/j.plipres.2003.12.001. PMID 15003397.
  7. 1 2 "Entrez Gene: CHKA choline kinase alpha".
  8. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
  9. Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K (June 2022). "Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly". Brain: A Journal of Neurology. 145 (6): 1916–1923. doi:10.1093/brain/awac074. PMC 9630884. PMID 35202461.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.