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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GPCPD1
glycerophosphocholine phosphodiesterase 1
Chromosome 20 · 20p12.3
NCBI Gene: 56261Ensembl: ENSG00000125772.16HGNC: HGNC:26957UniProt: Q9NPB8
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingglycerophospholipid catabolic processglycerophosphocholine phosphodiesterase activitystarch bindingvertebral column disorderovarian neoplasmglomerulonephritisneoplasm
✦AI Summary

GPCPD1 (glycerophosphocholine phosphodiesterase 1) is a ubiquitous enzyme that catalyzes the hydrolysis of glycerophosphocholine (GPC) to choline, with roles extending far beyond its enzymatic function. 1 Primary Function and Mechanism: GPCPD1 functions as a key regulator of glycerophospholipid metabolism, particularly in choline homeostasis. 2 Under hypoxic conditions, GPCPD1 undergoes depalmitoylation and relocates to the outer mitochondrial membrane, where it binds VDAC1 to regulate its oligomerization state, thereby promoting PRKN-mediated mitophagy. 3 The enzyme is expressed across multiple tissues including skeletal muscle, intestinal epithelium, and brain. 1 Disease Relevance: GPCPD1 dysregulation associates with multiple pathologies. Muscle-specific GPCPD1 deficiency causes severe glucose intolerance and 'aged-like' transcriptomic signatures, with impaired insulin signaling. 2 The GPCPD1-GPC pathway is perturbed in aging and type 2 diabetes patients. 2 GPCPD1-mediated mitophagy promotes triple-negative breast cancer growth and metastasis. 3 Reduced GPCPD1 expression occurs in Huntington's disease striatum and cortex, contributing to choline metabolism dysregulation. 4 Clinical Significance: GPCPD1 represents a potential diagnostic biomarker for acute myocardial infarction 5 and prognostic indicator in triple-negative breast cancer. 3 Restoring GPCPD1 function through metabolic modulation shows therapeutic promise for metabolic and neurodegenerative diseases.

Sources cited
1
GPCPD1 depalmitoylation under hypoxia triggers mitochondrial relocation and VDAC1-mediated mitophagy in breast cancer
PMID: 36803235
2
Muscle-specific GPCPD1 deficiency impairs glucose metabolism and insulin signaling; GPCPD1-GPC pathway perturbed in aging and type 2 diabetes
PMID: 38238601
3
GPCPD1 hydrolyzes GPC to choline in intestinal epithelium and regulates TMAO production
PMID: 39510189
4
GPCPD1 identified as potential lipid-related diagnostic biomarker for acute myocardial infarction
PMID: 36863716
5
GPCPD1 expression reduced in Huntington's disease brain; dysregulation contributes to choline metabolism disruption
PMID: 39143698
6
GPCPD1 involved in glycerophospholipid metabolism regulation in non-alcoholic fatty liver disease
PMID: 38894572
7
GPCPD1-mediated VDAC1 oligomerization regulation represents novel cancer therapy strategy
PMID: 40929940
Disease Associationsⓘ20
vertebral column disorderOpen Targets
0.30Weak
ovarian neoplasmOpen Targets
0.28Weak
glomerulonephritisOpen Targets
0.25Weak
neoplasmOpen Targets
0.09Suggestive
ocular hypotensionOpen Targets
0.07Suggestive
Genu valgumOpen Targets
0.07Suggestive
Genu varumOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
Huntington diseaseOpen Targets
0.05Suggestive
cancerOpen Targets
0.02Suggestive
acute myocardial infarctionOpen Targets
0.02Suggestive
sarcopeniaOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
AtrophyOpen Targets
0.01Suggestive
Glucose intoleranceOpen Targets
0.01Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
endometrial cancerOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ENPP6Shared pathway100%ACHEProtein interaction95%CHATProtein interaction95%CHKAProtein interaction95%CHKBProtein interaction95%PLB1Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
52%
Ovary
29%
Heart
15%
Brain
14%
Liver
11%
Gene Interaction Network
Click a node to explore
GPCPD1ENPP6ACHECHATCHKACHKBPLB1
PROTEIN STRUCTURE
Preparing viewer…
PDB2Z0B · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.15 [0.05–0.69]
RankingsWhere GPCPD1 stands among ~20K protein-coding genes
  • #14,162of 20,598
    Most Researched20
  • #5,226of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedGPCPD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypoxia-induced GPCPD1 depalmitoylation triggers mitophagy via regulating PRKN-mediated ubiquitination of VDAC1.
PMID: 36803235
Autophagy · 2023
1.00
2
Lipid Nanoparticle-Mediated Delivery of CRISPR-Cas9 Against Rubicon Ameliorates NAFLD by Modulating CD36 Along with Glycerophospholipid Metabolism.
PMID: 38894572
Adv Sci (Weinh) · 2024
0.90
3
Gpcpd1-GPC metabolic pathway is dysfunctional in aging and its deficiency severely perturbs glucose metabolism.
PMID: 38238601
Nat Aging · 2024
0.80
4
A defective lysophosphatidic acid-autophagy axis increases miscarriage risk by restricting decidual macrophage residence.
PMID: 35220880
Autophagy · 2022
0.70
5
Role of Gpcpd1 in intestinal alpha-glycerophosphocholine metabolism and trimethylamine N-oxide production.
PMID: 39510189
J Biol Chem · 2024
0.60