CHKB choline kinase beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHKBprovided by HGNC
Official Full Name: choline kinase betaprovided by HGNC
Primary source: HGNC:HGNC:1938
See related: Ensembl:ENSG00000100288 MIM:612395; AllianceGenome:HGNC:1938
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]
Expression: Ubiquitous expression in spleen (RPKM 35.8), lymph node (RPKM 28.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50578963..50582849, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (51089491..51093377, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (51017392..51021278, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers.
Title: Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers.
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Title: Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Title: Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Title: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.
Title: Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Title: Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
findings suggest that CKbeta, in concert with CKalpha, and depending on its phosphorylation status, might play a critical role as a druggable target in carcinogenesis
Title: Phosphorylation of Human Choline Kinase Beta by Protein Kinase A: Its Impact on Activity and Inhibition.
The whole exome sequencing revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene in exon 9.
Title: Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
A new form of congenital muscular dystrophy with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta gene defects has been characterized.
Title: Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
A novel silent variant in the choline kinase beta causing muscular dystrophy.
Title: New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Megaconial type congenital muscular dystrophy MedGen: C1865233 OMIM: 602541 GeneReviews: CHKB-Related Muscular Dystrophy	Compare labs

EBI GWAS Catalog

Description
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_4143-4144:996679424:1 (e-PCR)
- UniSTS:269332

STS-T55238 (e-PCR)
- UniSTS:43089

NoName (e-PCR)
- UniSTS:484348

Readthrough CHKB-CPT1B

Readthrough gene: CHKB-CPT1B, Included gene: CPT1B

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables choline kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables choline kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ethanolamine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ethanolamine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CDP-choline pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylethanolamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylethanolamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylethanolamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: choline/ethanolamine kinase

Names: choline kinase-like protein; ethanolamine kinase beta

NP_005189.2

EC 2.7.1.32

EC 2.7.1.82

NCBI Reference Sequences (RefSeq)

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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

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_855

mRNA and Protein(s)

NM_005198.5 → NP_005189.2 choline/ethanolamine kinase

See identical proteins and their annotated locations for NP_005189.2

Status: REVIEWED

Source sequence(s)

AB029886, BE676287

Consensus CDS

CCDS14099.1

UniProtKB/Swiss-Prot

A0PJM6, Q13388, Q9Y259

Related

ENSP00000384400.3, ENST00000406938.3

Conserved Domains (2) summary

PLN02236
Location:57 → 388

PLN02236; choline kinase

cd05156
Location:69 → 385

ChoK_euk; Euykaryotic Choline Kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

50578963..50582849 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

51089491..51093377 complement

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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.