CHKA

CHKA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CKO, 2CKP, 2CKQ, 2I7Q, 3F2R, 3G15, 3ZM9, 4BR3, 4CG8, 4CG9, 4CGA, 4DA5, 5AFV, 5EQE, 5EQP, 5EQY, 5FTG
Identifiers
Aliases	CHKA , CHK, CK, CKI, EK, choline kinase alpha
External IDs	OMIM: 118491; MGI: 107760; HomoloGene: 88575; GeneCards: CHKA; OMA:CHKA - orthologs
EC number	2.7.1.82
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.2 Start 68,052,859 bp [1] End 68,121,444 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 A|19 3.57 cM Start 3,851,773 bp [2] End 3,894,369 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis right lobe of thyroid gland left lobe of thyroid gland body of pancreas C1 segment right frontal lobe mucosa of transverse colon gastric mucosa body of stomach Top expressed in spermatocyte morula medullary collecting duct spermatid superior frontal gyrus submandibular gland tail of embryo cerebellar cortex neural layer of retina duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding protein homodimerization activity cholinesterase activity signal transducer activity choline binding kinase activity ATP binding ethanolamine kinase activity choline kinase activity Cellular component cytoplasm cytosol Biological process lipid transport ethanolamine metabolic process choline metabolic process phosphorylation lipid metabolism response to 3-methylcholanthrene phospholipid biosynthetic process response to toxic substance CDP-choline pathway signal transduction phosphatidylcholine biosynthetic process phosphatidylethanolamine biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1119 12660 Ensembl ENSG00000110721 ENSMUSG00000024843 UniProt P35790 O54804 RefSeq (mRNA) NM_001277 NM_212469 NM_001376219 NM_001376220 NM_001376221 NM_001376222 NM_001025566 NM_001271496 NM_013490 RefSeq (protein) NP_001268 NP_997634 NP_001363148 NP_001363149 NP_001363150 NP_001363151 NP_001258425 NP_038518 Location (UCSC) Chr 11: 68.05 – 68.12 Mb Chr 19: 3.85 – 3.89 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000110721 – Ensembl, May 2017
2. 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. Bibcode:1992FEBSL.304..229H. 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. "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.

External links

• Human CHKA genome location and CHKA gene details page in the UCSC Genome Browser .

Further reading

• Spanner S, Ansell GB (1979). "Choline kinase and ethanolamine kinase activity in the cytosol of nerve endings from rat forebrain". Biochem. J. 178 (3): 753–60. doi:10.1042/bj1780753. PMC   1186576 . PMID   36885.
• Spanner S, Ansell GB (1978). "Choline and Ethanolamine Kinase Activity in the Cytoplasm of Nerve Endings from Rat Forebrain". Enzymes of Lipid Metabolism. Advances in Experimental Medicine and Biology. Vol. 101. pp. 237–45. doi:10.1007/978-1-4615-9071-2_23. ISBN   978-1-4615-9073-6. PMID   208357.
• Kaplan O, Cohen JS (1994). "Lymphocyte activation-31P magnetic resonance studies of energy metabolism and phospholipid pathways". ImmunoMethods. 4 (2): 139–47. doi:10.1006/immu.1994.1015. PMID   8069533.
• Price DJ, Rivnay B, Fu Y, et al. (1997). "Direct association of Csk homologous kinase (CHK) with the diphosphorylated site Tyr568/570 of the activated c-KIT in megakaryocytes". J. Biol. Chem. 272 (9): 5915–20. doi: 10.1074/jbc.272.9.5915 . PMID   9038210.
• Ross BM, Moszczynska A, Blusztajn JK, et al. (1997). "Phospholipid biosynthetic enzymes in human brain". Lipids. 32 (4): 351–8. doi:10.1007/s11745-997-0044-x. PMID   9113621. S2CID   4003647.
• Nakagami K, Uchida T, Ohwada S, et al. (1999). "Increased choline kinase activity and elevated phosphocholine levels in human colon cancer". Jpn. J. Cancer Res. 90 (4): 419–24. doi:10.1111/j.1349-7006.1999.tb00764.x. PMC   5926083 . PMID   10363580.
• Ramírez de Molina A, Penalva V, Lucas L, Lacal JC (2002). "Regulation of choline kinase activity by Ras proteins involves Ral-GDS and PI3K". Oncogene. 21 (6): 937–46. doi: 10.1038/sj.onc.1205144 . PMID   11840339.
• Dubois T, Howell S, Zemlickova E, Aitken A (2002). "Identification of casein kinase Ialpha interacting protein partners". FEBS Lett. 517 (1–3): 167–71. Bibcode:2002FEBSL.517..167D. doi: 10.1016/S0014-5793(02)02614-5 . PMID   12062430. S2CID   84792445.
• Ramírez de Molina A, Gutiérrez R, Ramos MA, et al. (2002). "Increased choline kinase activity in human breast carcinomas: clinical evidence for a potential novel antitumor strategy". Oncogene. 21 (27): 4317–22. doi: 10.1038/sj.onc.1205556 . PMID   12082619.
• Ramírez de Molina A, Rodríguez-González A, Gutiérrez R, et al. (2002). "Overexpression of choline kinase is a frequent feature in human tumor-derived cell lines and in lung, prostate, and colorectal human cancers". Biochem. Biophys. Res. Commun. 296 (3): 580–3. doi:10.1016/S0006-291X(02)00920-8. PMID   12176020.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Gallego-Ortega D, Ramirez De Molina A, Gutierrez R, et al. (2006). "Generation and characterization of monoclonal antibodies against choline kinase alpha and their potential use as diagnostic tools in cancer" (PDF). Int. J. Oncol. 29 (2): 335–40. doi: 10.3892/ijo.29.2.335 . PMID   16820874.
• Enaw JO, Zhu H, Yang W, et al. (2007). "CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population". BMC Medicine. 4: 36. doi: 10.1186/1741-7015-4-36 . PMC   1770928 . PMID   17184542.