CHPT1 Gene

Name	choline phosphotransferase 1
Description	Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Is active in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CHPT1, the gene encoding choline phosphotransferase 1, functions as the key enzyme that catalyzes the final, rate‐limiting step of the CDP–choline (Kennedy) pathway for de novo synthesis of phosphatidylcholine—a major phospholipid essential for membrane integrity, signal transduction, and cell proliferation. In cancer models, CHPT1 is directly regulated by hormonal signals: estrogen receptor α activates CHPT1 transcription in breast cancer cells to drive estrogen‐induced increases in phosphatidylcholine synthesis, which in turn promotes anchorage‐independent growth, cell proliferation, and early metastasis; similarly, in castration‐resistant prostate cancer, aberrant activation of a super–enhancer leads to upregulated CHPT1 expression that supports phosphatidylcholine biosynthesis and enzalutamide resistance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In hematologic malignancies such as chronic lymphocytic leukemia, CHPT1 is among a group of lipid metabolism–related genes overexpressed in patients with poor prognostic markers, suggesting that dysregulation of phospholipid synthesis may contribute to disease pathophysiology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Conversely, in studies of neonatal respiratory distress syndrome and surfactant deficiency, mutation analyses revealed no significant contribution of CHPT1, implying that while CHPT1 is critical for membrane phospholipid production, its genetic variation may not underlie all disorders of lipid metabolism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, biochemical and cell‐based investigations have delineated the enzymatic properties and intracellular localization of CHPT1, demonstrating that—although its activity may be lower than that of the related enzyme CEPT1—it is responsible for synthesis of specific molecular species of phosphatidylcholine in defined organelles, thereby contributing to broader metabolic reprogramming in various disease states."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In a metabolic model of diabetic nephropathy, a putative mouse CHPT1 homologue was identified with altered glomerular expression, hinting at a potential role in renal lipid metabolism under diabetic conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Min Jia, Trygve Andreassen, Lasse Jensen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Estrogen Receptor α Promotes Breast Cancer by Reprogramming Choline Metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-15-2910"}], "href": "https://doi.org/10.1158/0008-5472.CAN-15-2910"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27457520"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27457520"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Simeng Wen, Yundong He, Liewei Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant activation of super enhancer and choline metabolism drive antiandrogen therapy resistance in prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41388-020-01456-z"}], "href": "https://doi.org/10.1038/s41388-020-01456-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32917955"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32917955"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Alessandra Trojani, Barbara Di Camillo, Alessandra Tedeschi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression profiling identifies ARSD as a new marker of disease progression and the sphingolipid metabolism as a potential novel metabolism in chronic lymphocytic leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Biomark (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/CBM-2012-0259"}], "href": "https://doi.org/10.3233/CBM-2012-0259"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22820137"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22820137"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jennifer A Wambach, Daniel J Wegner, Kelcey Depass, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatrics (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1542/peds.2012-0918"}], "href": "https://doi.org/10.1542/peds.2012-0918"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23166334"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23166334"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yasuhiro Horibata, Hiroyuki Sugimoto "}, {"type": "b", "children": [{"type": "t", "text": "Differential contributions of choline phosphotransferases CPT1 and CEPT1 to the biosynthesis of choline phospholipids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Lipid Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jlr.2021.100100"}], "href": "https://doi.org/10.1016/j.jlr.2021.100100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34331935"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34331935"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tomohito Gohda, Mitsuo Tanimoto, Kenji Shiina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Altered mouse cholinephosphotransferase gene expression in kidneys of type 2 diabetic KK/TA mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Metabolism (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.metabol.2004.02.002"}], "href": "https://doi.org/10.1016/j.metabol.2004.02.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15254874"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15254874"}]}]}]}
Synonyms	CPT
Proteins	CHPT1_HUMAN
NCBI Gene ID	56994
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHPT1 has 10,547 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for CHPT1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CHPT1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHPT1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHPT1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CHPT1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CHPT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CHPT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHPT1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CHPT1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHPT1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHPT1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CHPT1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CHPT1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHPT1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHPT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CHPT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CHPT1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHPT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHPT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHPT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CHPT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHPT1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHPT1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CHPT1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CHPT1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CHPT1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CHPT1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CHPT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CHPT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CHPT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHPT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CHPT1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHPT1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHPT1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CHPT1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CHPT1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CHPT1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of CHPT1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CHPT1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing CHPT1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of CHPT1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of CHPT1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.