CHKA (Choline Kinase Alpha): A Key Enzyme in Phospholipid Metabolism and Cancer
Comprehensive gene overview of CHKA, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | CHKA |
|---|---|
| Full Name | choline kinase alpha |
| Gene Type | protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 1119 ncbi.nlm.nih.gov/gene/1119 |
| Ensembl ID | ENSG00000110721 |
| UniProt ID | P35790 |
| OMIM ID | 118491 |
| HGNC ID | 1937 |
| Aliases | CHK, CK, CKI, CHETK, CHKL |
Description
The CHKA gene encodes choline kinase alpha, an enzyme that catalyzes the phosphorylation of choline to phosphocholine, the first step in the CDP-choline pathway for phosphatidylcholine synthesis. This enzyme plays a critical role in phospholipid metabolism, cell membrane integrity, and signaling. CHKA is overexpressed in various cancers and is implicated in tumor progression, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and increased enzymatic activity lead to elevated phosphocholine levels, promoting cell proliferation and survival. | COSMIC; multiple studies (e.g., PMID: 15696293) |
| Hepatocellular carcinoma | Upregulation of CHKA contributes to tumor growth and metastasis via altered lipid metabolism. | COSMIC; PMID: 23455352 |
| Breast cancer | High CHKA expression correlates with aggressive tumor phenotypes and poor prognosis. | COSMIC; PMID: 20516135 |
| Colorectal cancer | CHKA overexpression enhances cell migration and invasion through modulation of lipid signaling. | COSMIC; PMID: 24662937 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 20.1 | High |
| Kidney | 15.3 | Medium |
| Brain | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Heart | 8.2 | Low |
| Skeletal Muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 25.3 | High expression |
| A549 (lung) | 18.7 | Moderate expression |
| MCF7 (breast) | 22.1 | High expression |
| HeLa (cervical) | 16.4 | Moderate expression |
| K562 (leukemia) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149C>T (p.Pro50Leu) | Missense | 0.5% (COSMIC) | Potential impact on enzyme activity; not well characterized |
| c.1003G>A (p.Gly335Arg) | Missense | 0.2% (COSMIC) | Unknown functional effect |
| c.1204A>G (p.Thr402Ala) | Missense | 0.1% (COSMIC) | Likely benign |
| c.77C>T (p.Ala26Val) | Missense | 0.3% (COSMIC) | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No well-documented loss-of-function mutations in CHKA have been reported in cancer; however, experimental knockdown studies show reduced cell proliferation.
Gain of Function (GOF)
Overexpression and gene amplification are common in cancers, leading to increased enzymatic activity and oncogenic signaling.
Dominant Negative (DN)
No evidence for dominant-negative mutations in CHKA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerophospholipid biosynthesis
• Choline metabolism in cancer
• Phosphatidylcholine biosynthesis (CDP-choline pathway)
Protein Summary
Choline kinase alpha is a 456-amino acid protein that exists as a homodimer or heterodimer with choline kinase beta (CHKB). It catalyzes the ATP-dependent phosphorylation of choline to phosphocholine. The protein is predominantly cytoplasmic but can associate with membranes. It is involved in cell growth, survival, and lipid signaling. Its overexpression in cancers is linked to increased phosphocholine levels, a hallmark of tumor metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHKA Knockout HEK293 Cell Line | EDJ-KQ3777 | Human | 1119 | Details Get a Quote |
| CHKA Knockout A-549 Cell Line | EDJ-KQ25872 | Human | 1119 | Details Get a Quote |
| CHKA Knockout HCT 116 Cell Line | EDJ-KQ25873 | Human | 1119 | Details Get a Quote |
| CHKA Knockout HeLa Cell Line | EDJ-KQ25874 | Human | 1119 | Details Get a Quote |
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