Chkb choline kinase beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chkbprovided by MGI
Official Full Name: choline kinase betaprovided by MGI
Primary source: MGI:MGI:1328313
See related: Ensembl:ENSMUSG00000022617 AllianceGenome:MGI:1328313
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ck; Ek; Ckb; Chkl; Chetk; Ck/Ek; Ckekb; Ck/Ek-beta
Summary: Enables choline kinase activity. Acts upstream of or within muscle organ development and phosphatidylcholine biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; heart; and sensory organ. Used to study megaconial type congenital muscular dystrophy. Human ortholog(s) of this gene implicated in intellectual disability; megaconial type congenital muscular dystrophy; muscular dystrophy; narcolepsy; and recurrent hypersomnia. Orthologous to human CHKB (choline kinase beta). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in large intestine adult (RPKM 30.3), duodenum adult (RPKM 29.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 44.89 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (89310552..89314130, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (89426349..89429927, complement)

Chromosome 15 - NC_000081.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CHKB is a new modulator of bone homeostasis
Title: Choline kinase β mutant mice exhibit reduced phosphocholine, elevated osteoclast activity, and low bone mass.
Our data indicate that choline kinase beta plays an important role in endochondral bone formation by modulating growth plate physiology.
Title: Choline kinase beta is required for normal endochondral bone formation.
Loss of choline kinase beta in skeletal muscle causes mitochondrial dysfunction and increased mitophagy.
Title: Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
The hindlimb muscular dystrophy in Chkb -/- mice is due to attenuated phosphatidylcholine biosynthesis and enhanced catabolism of phosphatidylcholine.
Title: Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice.
choline kinase beta is the first enzyme in phosphatidylcholine biosynthesis and has a role in rostrocaudal muscular dystrophy
Title: A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.
Mutation of the corresponding D276 of CK-beta to A276 did not show any effect on either its homo- or hetero-dimerization but it caused a strong inhibition of CK activity in either case.
Title: Deletion and alanine mutation analyses for the formation of active homo- or hetero-dimer complexes of mouse choline kinase-alpha and -beta.
Experimental evidence for the presence of heteromeric ChoK/EtnK in any source. The activity of ChoK/EtnK in the cell is controlled not only by the level of each isoform but also by their combination to form the active oligomer complex.
Title: Expression and characterization of the active molecular forms of choline/ethanolamine kinase-alpha and -beta in mouse tissues, including carbon tetrachloride-induced liver.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Mit190 (e-PCR), detects polymorphism
- UniSTS:116438

Readthrough Gm44502

Readthrough gene: Gm44502, Included gene: Cpt1b

Gene Ontology Provided by MGI

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables choline kinase activity	ISO Inferred from Sequence Orthology more info
enables choline kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ethanolamine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ethanolamine kinase activity	IEA Inferred from Electronic Annotation more info
enables ethanolamine kinase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in CDP-choline pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in CDP-choline pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidylcholine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylethanolamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylethanolamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylethanolamine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylethanolamine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: choline/ethanolamine kinase

Names: choline/ethanolamine kinase-b; choline/ethanolaminekinase; ethanolamine kinase

NP_031718.1

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.

mRNA and Protein(s)

NM_007692.6 → NP_031718.1 choline/ethanolamine kinase

See identical proteins and their annotated locations for NP_031718.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript but encodes the supported protein.

Source sequence(s)

AC137513, AI853330, AK078101

Consensus CDS

CCDS27750.1

UniProtKB/Swiss-Prot

O55229

UniProtKB/TrEMBL

Q54AG5

Related

ENSMUSP00000023289.7, ENSMUST00000023289.13

Conserved Domains (2) summary

PLN02236
Location:57 → 391

PLN02236; choline kinase

cd05156
Location:73 → 385

ChoK_euk; Euykaryotic Choline Kinase

RNA

NR_037153.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an extra segment in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC137513, AI853330

Related

ENSMUST00000170334.8
NR_037154.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate internal splice site in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC137513, AI853330