CHKA choline kinase alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHKAprovided by HGNC
Official Full Name: choline kinase alphaprovided by HGNC
Primary source: HGNC:HGNC:1937
See related: Ensembl:ENSG00000110721 MIM:118491; AllianceGenome:HGNC:1937
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; CHK; CKI; NEDMIMS
Summary: 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. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 24.3), thyroid (RPKM 9.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (68052859..68121388, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (68056500..68125033, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67820326..67888855, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Correlation between choline kinase alpha expression and [11]C-choline accumulation in breast cancer using positron emission tomography/computed tomography: a retrospective study.
Title: Correlation between choline kinase alpha expression and (11)C-choline accumulation in breast cancer using positron emission tomography/computed tomography: a retrospective study.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Title: Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
DNA Methylation of Human Choline Kinase Alpha Promoter-Associated CpG Islands in MCF-7 Cells.
Title: DNA Methylation of Human Choline Kinase Alpha Promoter-Associated CpG Islands in MCF-7 Cells.
Choline kinase alpha 2 acts as a protein kinase to promote lipolysis of lipid droplets.
Title: Choline kinase alpha 2 acts as a protein kinase to promote lipolysis of lipid droplets.
[Knockdown of choline kinase alpha (CHKA) inhibits the proliferation, invasion and migration of human U87MG glioma cells].
Title: [Knockdown of choline kinase α (CHKA) inhibits the proliferation, invasion and migration of human U87MG glioma cells].
During proliferation, KDM2B binds to the Box2 located in the Chka promoter repressing its transcription. KDM2B knockdown enhances the levels of CKalpha expression in neuroblast cells and induces neuronal differentiation. These results suggest that KDM2B is required for the appropriate regulation of CKalpha during neuronal differentiation and to the maintaining of the undifferentiated stage of neuroblast cells.
Title: KDM2B regulates choline kinase expression and neuronal differentiation of neuroblastoma cells.
miR-876-5p was able to significantly decrease the expression level of choline kinase alpha mRNA.
Title: Downregulation of human choline kinase α gene expression by miR-876-5p.
There is no correlation between single CHKA rs7928739 polymorphism and the incidence of intrauterine fetal death.
Title: Polymorphic variants of genes involved in choline pathway and the risk of intrauterine fetal death.
This study presents the detail the 2.35 A structure of choline kinase alpha in complex with inhibitor TCD-717.
Title: Identification of a Unique Inhibitor-Binding Site on Choline Kinase α.
Results indicate that choline kinase alpha (CHKA) contributes to tumor progression and metastasis and may serve as a prognostic biomarker and potential therapeutic target in colorectal carcinoma (CRC).
Title: Overexpression of CHKA contributes to tumor progression and metastasis and predicts poor prognosis in colorectal carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures MedGen: C5774208 OMIM: 620023 GeneReviews: Not available	not available

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

D11S2921 (e-PCR)
- UniSTS:152074

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

D11S3651 (e-PCR)
- UniSTS:152885

sY3084 (e-PCR)
- UniSTS:515126

STS-H94874 (e-PCR)
- UniSTS:28484

L17709 (e-PCR)
- UniSTS:42599

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

RH36905 (e-PCR)
- UniSTS:87932

RH47025 (e-PCR)
- UniSTS:52860

RH94200 (e-PCR)
- UniSTS:91011

D11S3114 (e-PCR)
- UniSTS:152207

CHKA_8254 (e-PCR)
- UniSTS:467604

WI-17872 (e-PCR)
- UniSTS:153

D11S4327 (e-PCR)
- UniSTS:10165

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 cholinesterase activity	IEA Inferred from Electronic Annotation more info
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
enables protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IEA Inferred from Electronic Annotation 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
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect lipid droplet disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in lipid transport	TAS Traceable Author Statement more info	PubMed
involved_in phosphatidylcholine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
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
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in lipid droplet	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: choline kinase alpha

Names: CHETK-alpha; ethanolamine kinase

NP_001268.2

EC 2.7.1.32

EC 2.7.1.82

NP_001363148.1

EC 2.7.1.32

EC 2.7.1.82

NP_001363149.1

EC 2.7.1.32

EC 2.7.1.82

NP_001363150.1

EC 2.7.1.32

EC 2.7.1.82

NP_001363151.1

EC 2.7.1.32

EC 2.7.1.82

NP_997634.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282271.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282272.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282273.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282274.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282275.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282277.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282278.1

EC 2.7.1.32

EC 2.7.1.82

XP_047282279.1

EC 2.7.1.32

EC 2.7.1.82

XP_054223517.1

EC 2.7.1.32

EC 2.7.1.82

XP_054223518.1

EC 2.7.1.32

EC 2.7.1.82

XP_054223519.1

EC 2.7.1.32

EC 2.7.1.82

XP_054223520.1

EC 2.7.1.32

EC 2.7.1.82

XP_054223521.1

EC 2.7.1.32

EC 2.7.1.82

XP_054223522.1

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_001277.3 → NP_001268.2 choline kinase alpha isoform a

See identical proteins and their annotated locations for NP_001268.2

Status: REVIEWED

Source sequence(s)

BC036471, BG703955, BG723115, BI195927, BU617910, D10704

Consensus CDS

CCDS8178.1

UniProtKB/Swiss-Prot

P35790, Q8NE29

Related

ENSP00000265689.4, ENST00000265689.9

Conserved Domains (1) summary

cd05156
Location:111 → 452

ChoK_euk; Euykaryotic Choline Kinase
NM_001376219.1 → NP_001363148.1 choline kinase alpha isoform c

Status: REVIEWED

Source sequence(s)

AP002807, AP002992

Conserved Domains (1) summary

cd05156
Location:111 → 462

ChoK_euk; Euykaryotic Choline Kinase
NM_001376220.1 → NP_001363149.1 choline kinase alpha isoform d

Status: REVIEWED

Source sequence(s)

AP002807, AP002992

Conserved Domains (1) summary

cd05156
Location:111 → 414

ChoK_euk; Euykaryotic Choline Kinase
NM_001376221.1 → NP_001363150.1 choline kinase alpha isoform e

Status: REVIEWED

Source sequence(s)

AP002807, AP002992

Conserved Domains (1) summary

cd05156
Location:1 → 330

ChoK_euk; Euykaryotic Choline Kinase
NM_001376222.1 → NP_001363151.1 choline kinase alpha isoform f

Status: REVIEWED

Source sequence(s)

AP002807, AP002992

Conserved Domains (1) summary

cd05156
Location:1 → 312

ChoK_euk; Euykaryotic Choline Kinase
NM_212469.2 → NP_997634.1 choline kinase alpha isoform b

See identical proteins and their annotated locations for NP_997634.1

Status: REVIEWED

Source sequence(s)

AP002807, AP002992

Consensus CDS

CCDS8179.1

UniProtKB/Swiss-Prot

P35790

Related

ENSP00000348454.4, ENST00000356135.9

Conserved Domains (2) summary

PLN02236
Location:99 → 437

PLN02236; choline kinase

cd05156
Location:111 → 434

ChoK_euk; Euykaryotic Choline Kinase