CHKA

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

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
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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]