CHKB choline kinase beta [Homo sapiens] - Gene

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Summary

Official Symbol: CHKBprovided by HGNC
Official Full Name: choline kinase betaprovided by HGNC
Primary source: HGNC:1938
See related: Ensembl:ENSG00000100288; HPRD:07631; MIM:612395; Vega:OTTHUMG00000150275
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CK; EK; CKB; EKB; CHKL; CHETK; CKEKB; MDCMC
Summary: Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

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Genomic context

Location :: 22q13.33

Sequence :: Chromosome: 22; NC_000022.10 (51017387..51021428, complement)

See CHKB in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

homozygous or compound heterozygous mutations in the gene encoding choline kinase beta were identified in individulas with congenital muscular dystrophy.
Title: A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
kinetic studies revealed that HC-3 is a much more potent inhibitor for ChoKalpha isoforms (alpha1 and alpha2) compared with ChoKbeta.
Title: Crystal structures of human choline kinase isoforms in complex with hemicholinium-3: single amino acid near the active site influences inhibitor sensitivity.
ChoKalpha and ChoKbeta isoforms have different physiological roles and implications in human carcinogenesis
Title: Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment.
Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy was significantly associated with SNP rs5770917 (located between CPT1B and CHKB) and HLA-DRB1*1501-DQB1*0602 haplotype
Title: Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
A single nucleotide polymorphism located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).
Title: Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Muscular dystrophy, congenital, megaconial type

MIM: 602541

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.

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Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
choline kinase activity	IDA Inferred from Direct Assay more info	PubMed
ethanolamine kinase activity	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
CDP-choline pathway	IDA Inferred from Direct Assay more info	PubMed
muscle organ development	IEA Inferred from Electronic Annotation more info
phosphatidylethanolamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: choline/ethanolamine kinase

Names: choline/ethanolamine kinase; ethanolamine kinase beta; choline kinase-like protein

NP_005189.2

EC 2.7.1.32

EC 2.7.1.82

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029213.1 RefSeqGene

Range

5001..9042

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005198.4 → NP_005189.2 choline/ethanolamine kinase

Status: REVIEWED

Source sequence(s)

AB029886, BE676287, DB106393

Consensus CDS

CCDS14099.1

UniProtKB/TrEMBL

A0PJM6

UniProtKB/Swiss-Prot

Q9Y259

Related

ENSP00000384400, OTTHUMP00000196839, ENST00000406938, OTTHUMT00000317267

Conserved Domains (2) summary

cd05156
Location:69 – 360
Blast Score: 899

ChoK_euk; Choline Kinase (ChoK) in eukaryotes. The ChoK subfamily is part of a larger superfamily that includes the catalytic domains of other kinases, such as the typical serine/threonine/tyrosine protein kinases (PKs), RIO kinases, actin-fragmin kinase (AFK), ...

PLN02236
Location:57 – 388
Blast Score: 586

PLN02236; choline kinase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p5 Primary Assembly

Range

51017387..51021428, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

33908386..33912427, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152253.1: Suppressed sequence

Description

NM_152253.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB003286.1	BAA21491.1
genomic	AB029885.1	BAA82511.1
genomic	CH471138.1	EAW73573.1
		EAW73574.1
		EAW73575.1
genomic	U62317.2	AAB03342.2
mRNA	AB029886.1	BAA82512.1
mRNA	AK097775.1	None
mRNA	AK314324.1	BAG36972.1
mRNA	AL096780.1	CAB46629.1
mRNA	AL096781.1	CAB46630.1
mRNA	BC024286.1	None
mRNA	BC037162.2	None
mRNA	BC050443.1	None
mRNA	BC056404.1	None
mRNA	BC082263.1	AAH82263.1
mRNA	BC101488.1	AAI01489.1
mRNA	BC113521.1	AAI13522.2
mRNA	BE676287.1	None
mRNA	CR456419.1	CAG30305.1
mRNA	DB106393.1	None
other-genetic	CU012980.1	CAK54411.1
other-genetic	CU013268.1	CAK54710.1
other-genetic	HQ258226.1	ADR82980.1