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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHPT1
choline phosphotransferase 1
Chromosome 12 · 12q23.2
NCBI Gene: 56994Ensembl: ENSG00000111666.12HGNC: HGNC:17852UniProt: Q8WUD6
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatidylcholine biosynthetic processplatelet activating factor biosynthetic processdiacylglycerol cholinephosphotransferase activityhabitual abortionAbnormal pupillary functionankylosing spondylitisneoplasm
✦AI Summary

CHPT1 (choline phosphotransferase 1) catalyzes the final step of de novo phosphatidylcholine (PC) synthesis by transferring choline phosphate from CDP-choline to diacylglycerol, playing a central role in formation and maintenance of vesicular membranes 1. This enzyme is essential for autophagosome membrane composition and turnover during autophagy-induced stress responses 2. Functionally, CHPT1 acts as a metabolic gatekeeper regulating cellular adaptation to adverse conditions. Disease relevance is substantial: mutations in CHPT1 cause globozoospermia, a severe form of male infertility characterized by abnormal sperm morphology 3. Additionally, CHPT1 dysregulation contributes to cancer chemoresistance and therapy evasion. In colorectal cancer, CHPT1 overexpression increases PC content and confers chemoresistance; elevated CHPT1 correlates with poor patient outcomes 4. Similarly, in prostate cancer, aberrantly activated enhancers upregulate CHPT1 expression, conferring resistance to antiandrogen therapy 5. In breast cancer, estrogen receptor-α directly regulates CHPT1 to reprogram choline metabolism and promote tumor growth and metastasis 6. CHPT1 dysregulation is also identified in sepsis pathogenesis 7. Clinically, CHPT1 represents a therapeutic target: inhibiting PC biosynthesis upstream of CHPT1 using edelfosine enhances chemosensitivity in resistant colorectal cancer models 4.

Sources cited
1
CHPT1 catalyzes the final step of de novo phosphatidylcholine synthesis and facilitates formation and maintenance of vesicular membranes
PMID: 36698192
2
CHPT1 is essential for autophagosome membrane composition during autophagy-induced drug stress responses
PMID: 31517566
3
Mutations in CHPT1 cause globozoospermia, a form of male infertility with abnormal sperm morphology
PMID: 39417902
4
CHPT1 overexpression in colorectal cancer promotes PC accumulation and chemoresistance; elevated CHPT1 correlates with poor patient outcomes
PMID: 41827872
5
Aberrantly activated super enhancers upregulate CHPT1 expression to confer antiandrogen therapy resistance in prostate cancer
PMID: 32917955
6
Estrogen receptor-α directly regulates CHPT1 to reprogram choline metabolism and promote breast cancer growth and metastasis
PMID: 27457520
7
CHPT1 is progressively dysregulated in sepsis pathogenesis
PMID: 37671148
Disease Associationsⓘ20
habitual abortionOpen Targets
0.47Moderate
Abnormal pupillary functionOpen Targets
0.29Weak
ankylosing spondylitisOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
non-alcoholic steatohepatitisOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
hypotensionOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.03Suggestive
Dental malocclusionOpen Targets
0.03Suggestive
musculoskeletal system diseaseOpen Targets
0.03Suggestive
acneOpen Targets
0.03Suggestive
pulmonary arterial hypertensionOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
periodontitisOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEMTProtein interaction97%LPCAT2Protein interaction96%LPCAT3Protein interaction96%LPCAT1Protein interaction96%PLPP2Protein interaction96%PTDSS1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
90%
Heart
88%
Lung
47%
Brain
43%
Ovary
25%
Gene Interaction Network
Click a node to explore
CHPT1PEMTLPCAT2LPCAT3LPCAT1PLPP2PTDSS1
PROTEIN STRUCTURE
Preparing viewer…
PDB9UET · 3.68 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.59–1.39]
RankingsWhere CHPT1 stands among ~20K protein-coding genes
  • #10,754of 20,598
    Most Researched36
  • #14,442of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedCHPT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
1.00
2
Integrated lipidomics and network pharmacology analysis to reveal the mechanisms of berberine in the treatment of hyperlipidemia.
PMID: 36076294
J Transl Med · 2022
0.90
3
Exosomes derived from human adipose mesenchymal stem cells ameliorate hepatic fibrosis by inhibiting PI3K/Akt/mTOR pathway and remodeling choline metabolism.
PMID: 36698192
J Nanobiotechnology · 2023
0.80
4
PMID: 31517566
Autophagy · 2020
0.70
5
Phosphatidylcholine and CHPT1 as Central Drivers of Chemoresistance in Colorectal Cancer: Lipidomic and Functional Insights.
PMID: 41827872
Cells · 2026
0.60