CHPT1 Gene: Choline Phosphotransferase 1
Key enzyme in phosphatidylcholine biosynthesis and lipid metabolism
Gene Information Card
| Symbol | CHPT1 |
|---|---|
| Full Name | Choline Phosphotransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.33 |
| NCBI Gene ID | 56994 ncbi.nlm.nih.gov/gene/56994 |
| Ensembl ID | ENSG00000111666 |
| UniProt ID | Q8WUD6 |
| OMIM ID | 611564 |
| HGNC ID | 23729 |
| Aliases | CDP-choline:1,2-diacylglycerol cholinephosphotransferase 1, CHPT-1, hCPT1 |
Description
CHPT1 encodes choline phosphotransferase 1, an enzyme that catalyzes the final step in the CDP-choline pathway of phosphatidylcholine biosynthesis. It transfers a phosphocholine moiety from CDP-choline to diacylglycerol, producing phosphatidylcholine and CMP. This enzyme is integral to membrane lipid homeostasis and is localized to the endoplasmic reticulum and Golgi apparatus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered phosphatidylcholine metabolism; CHPT1 overexpression may promote tumor growth by increasing membrane phospholipid synthesis. | COSMIC database reports somatic mutations in multiple cancer types; expression changes noted in breast and colorectal cancers. |
| Alzheimer's disease | Potential involvement in choline metabolism dysregulation; altered phosphatidylcholine levels are observed in AD brains. | Limited evidence; indirect via lipid metabolism pathways. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.5 | Medium |
| Brain | 6.2 | Low |
| Liver | 12.3 | High |
| Lung | 7.1 | Medium |
| Pancreas | 9.8 | Medium |
| Skeletal muscle | 4.5 | Low |
| Testis | 15.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| MCF7 | 8.9 | Breast cancer cell line |
| A549 | 7.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101G>A (p.Arg34His) | Missense | 0.02% (gnomAD) | Unknown; predicted benign by in silico tools. |
| c.452C>T (p.Thr151Met) | Missense | 0.01% (gnomAD) | Unknown; predicted possibly damaging by PolyPhen-2. |
| c.689A>G (p.Tyr230Cys) | Missense | 0.005% (COSMIC) | Reported in colorectal cancer; functional impact not characterized. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CHPT1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylcholine biosynthesis (CDP-choline pathway) - Reactome R-HSA-1483206
• Glycerophospholipid biosynthesis - KEGG map00564
Protein Summary
CHPT1 is a 411-amino acid transmembrane protein localized to the endoplasmic reticulum and Golgi. It catalyzes the final step in phosphatidylcholine synthesis via the CDP-choline pathway. The protein contains multiple transmembrane domains and is essential for membrane biogenesis and lipid signaling. Its expression is highest in testis and liver, with moderate levels in adipose and pancreas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHPT1 Knockout HEK293 Cell Line | EDJ-KQ12915 | Human | 56994 | Details Get a Quote |
| CHPT1 Knockout A-549 Cell Line | EDJ-KQ42115 | Human | 56994 | Details Get a Quote |
| CHPT1 Knockout HeLa Cell Line | EDJ-KQ42117 | Human | 56994 | Details Get a Quote |
| CHPT1 Knockout HCT 116 Cell Line | EDJ-KQ40864 | Human | 56994 | Details Get a Quote |
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