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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PDE1A
phosphodiesterase 1A
Chromosome 2 · 2q32.1
NCBI Gene: 5136Ensembl: ENSG00000115252.20HGNC: HGNC:8774UniProt: B7Z226
38PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activitycalmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activitynegative regulation of cAMP/PKA signal transductionneuronal cell bodycoronary artery diseasehypertensionstrokeAbnormality of the skeletal system
✦AI Summary

PDE1A is a calcium/calmodulin-dependent cyclic nucleotide phosphodiesterase with dual specificity for cGMP and cAMP, demonstrating preferential efficiency toward cGMP 1. The gene encodes multiple splice variants with tissue-specific expression patterns, particularly enriched in brain, kidney, liver, and testis 1. PDE1A exists as a stable complex with calmodulin in human spermatozoa and functions in regulating intracellular cyclic nucleotide levels 2. Mechanistically, PDE1A hydrolyzes cGMP to suppress protein kinase G (PKG) signaling and subsequent phosphorylation of downstream effectors including vasodilator-stimulated phosphoprotein (VASP) and β-catenin 34. In cancer contexts, PDE1A interacts with the RNA-binding protein YTHDF2 to modulate STAT3 pathway activation and promote metastasis 5. Clinically, PDE1A elevation associates with disease progression across multiple conditions. In diabetic kidney disease and IgA nephropathy, elevated PDE1A correlates with deteriorating renal function and serves as a diagnostic biomarker 63. PDE1A knockout or inhibition with ITI-214 significantly alleviates renal fibrosis in mouse models 3. In cancer, PDE1A overexpression promotes metastasis in triple-negative breast cancer and non-small cell lung cancer through multiple signaling pathways 45. Mendelian randomization analysis suggests PDE1A association with autism spectrum disorder risk 7.

Sources cited
1
PDE1A is a calcium/calmodulin-dependent phosphodiesterase with multiple tissue-specific splice variants; localized to chromosome 2q32
PMID: 11342109
2
PDE1A exists as a stable complex with calmodulin in human spermatozoa and demonstrates dual specificity for cAMP and cGMP
PMID: 12135876
3
PDE1A overexpression in renal tubular epithelial cells increases with disease progression in diabetic kidney disease and IgA nephropathy; PDE1A inhibition prevents TGF-β1-induced matrix production by reducing cGMP and suppressing PKG/β-catenin signaling
PMID: 41318996
4
PDE1A is identified as an immune-associated diagnostic marker and therapeutic target in diabetic kidney disease, with elevated expression correlating with disease progression
PMID: 37063851
5
PDE1A is downstream of CaMKK2 and suppresses PKG1 signaling to reduce VASP phosphorylation and F-actin assembly, promoting cancer cell motility and metastasis
PMID: 37335130
6
PDE1A physically interacts with YTHDF2 to activate STAT3 signaling and promote metastasis, EMT progression, and angiogenesis in non-small cell lung cancer
PMID: 40704992
7
Mendelian randomization analysis identifies PDE1A association with autism spectrum disorder risk (OR=1.0836)
PMID: 37605207
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.63Moderate
hypertensionOpen Targets
0.61Moderate
strokeOpen Targets
0.54Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
cardiovascular diseaseOpen Targets
0.47Moderate
essential hypertensionOpen Targets
0.45Moderate
goutOpen Targets
0.44Moderate
myocardial infarctionOpen Targets
0.39Weak
Increased blood pressureOpen Targets
0.39Weak
muscular dystrophyOpen Targets
0.37Weak
intermittent vascular claudicationOpen Targets
0.37Weak
Recurrent thrombophlebitisOpen Targets
0.37Weak
smoking initiationOpen Targets
0.36Weak
chronic kidney diseaseOpen Targets
0.35Weak
Hepatitis, AlcoholicOpen Targets
0.33Weak
response to xenobiotic stimulusOpen Targets
0.33Weak
Neonatal sepsisOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.31Weak
VitiligoOpen Targets
0.31Weak
non-alcoholic steatohepatitisOpen Targets
0.31Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
DIPYRIDAMOLEApproved
3',5'-cyclic phosphodiesterase inhibitor
coronary artery disease
PENTOXIFYLLINEApproved
Adenosine A2 receptor antagonist
cardiovascular disease
Related Genes
GNG13Protein interaction100%GNAT3Protein interaction98%CALM3Protein interaction97%CALML5Protein interaction97%CALML4Protein interaction97%CALML6Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
92%
Ovary
25%
Liver
13%
Lung
8%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
PDE1AGNG13GNAT3CALM3CALML5CALML4CALML6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P54750
View on AlphaFold ↗
RankingsWhere PDE1A stands among ~20K protein-coding genes
  • #10,525of 20,598
    Most Researched38
  • #675of 1,025
    FDA-Approved Drug Targets2
Genes detectedPDE1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell RNA and transcriptome sequencing profiles identify immune-associated key genes in the development of diabetic kidney disease.
PMID: 37063851
Front Immunol · 2023
1.00
2
Human Ca2+/calmodulin-dependent phosphodiesterase PDE1A: novel splice variants, their specific expression, genomic organization, and chromosomal localization.
PMID: 11342109
Biochim Biophys Acta · 2001
0.90
3
Phosphodiesterase and psychiatric disorders: a two-sample Mendelian randomization study.
PMID: 37605207
J Transl Med · 2023
0.80
4
Phosphodiesterase 1A overexpression contributes to the progression of renal fibrosis.
PMID: 41318996
Mol Ther · 2026
0.70
5
Isolation, expression and analysis of splice variants of a human Ca2+/calmodulin-stimulated phosphodiesterase (PDE1A).
PMID: 10405764
Cell Signal · 1999
0.60