U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CHKA choline kinase alpha [ Homo sapiens (human) ]

Gene ID: 1119, updated on 23-Nov-2023

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CHKA in Genome Data Viewer
Location:
11q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68052859..68121388, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68056500..68125033, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67820326..67888855, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67805851-67806472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3657 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene microRNA 4691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67817396-67818388 Neighboring gene T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Neighboring gene microRNA 6753 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67834020-67834520 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67850572-67850749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67861600-67861729 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67870988-67871188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67886638-67887154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3658 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67888828-67889593 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67889594-67890360 Neighboring gene CHKA divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67907579-67907779 Neighboring gene lysine methyltransferase 5B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67981441-67982143

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Klöckner C, et al. Brain, 2022 Jun 30. PMID 35202461, Free PMC Article
  2. DNA Methylation of Human Choline Kinase Alpha Promoter-Associated CpG Islands in MCF-7 Cells. Mohamed Sa'dom SAF, et al. Genes (Basel), 2021 Jun 1. PMID 34205960, Free PMC Article
  3. [Knockdown of choline kinase α (CHKA) inhibits the proliferation, invasion and migration of human U87MG glioma cells]. Yue F, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2020 Aug. PMID 32958130
  4. Identification of a Unique Inhibitor-Binding Site on Choline Kinase α. Kall SL, et al. Biochemistry, 2018 Feb 27. PMID 29389115
  5. Choline Kinase α Mediates Interactions Between the Epidermal Growth Factor Receptor and Mechanistic Target of Rapamycin Complex 2 in Hepatocellular Carcinoma Cells to Promote Drug Resistance and Xenograft Tumor Progression. Lin XM, et al. Gastroenterology, 2017 Apr. PMID 28065789, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. [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].
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 homodimerization 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 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 IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
choline kinase alpha
Names
CHETK-alpha
ethanolamine kinase
NP_001268.2
NP_001363148.1
NP_001363149.1
NP_001363150.1
NP_001363151.1
NP_997634.1
XP_047282271.1
XP_047282272.1
XP_047282273.1
XP_047282274.1
XP_047282275.1
XP_047282277.1
XP_047282278.1
XP_047282279.1
XP_054223517.1
XP_054223518.1
XP_054223519.1
XP_054223520.1
XP_054223521.1
XP_054223522.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

RNA

  1. NR_164782.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP002807, AP002992

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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    68052859..68121388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426315.1 → XP_047282271.1  choline kinase alpha isoform X1

  2. XM_047426316.1 → XP_047282272.1  choline kinase alpha isoform X2

  3. XM_047426317.1 → XP_047282273.1  choline kinase alpha isoform X3

  4. XM_047426318.1 → XP_047282274.1  choline kinase alpha isoform X4

  5. XM_047426321.1 → XP_047282277.1  choline kinase alpha isoform X5

  6. XM_047426322.1 → XP_047282278.1  choline kinase alpha isoform X6

  7. XM_047426319.1 → XP_047282275.1  choline kinase alpha isoform X5

  8. XM_047426323.1 → XP_047282279.1  choline kinase alpha isoform X7

RNA

  1. XR_007062448.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    68056500..68125033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367542.1 → XP_054223517.1  choline kinase alpha isoform X1

  2. XM_054367543.1 → XP_054223518.1  choline kinase alpha isoform X2

  3. XM_054367544.1 → XP_054223519.1  choline kinase alpha isoform X3

  4. XM_054367545.1 → XP_054223520.1  choline kinase alpha isoform X4

  5. XM_054367546.1 → XP_054223521.1  choline kinase alpha isoform X5

  6. XM_054367547.1 → XP_054223522.1  choline kinase alpha isoform X7

RNA

  1. XR_008488334.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35790.3 GenPept UniProtKB/Swiss-Prot:P35790

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous