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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PDE1C
phosphodiesterase 1C
Chromosome 7 Β· 7p14.3
NCBI Gene: 5137Ensembl: ENSG00000154678.18HGNC: HGNC:8776UniProt: A0A0A0MS69
38PubMed Papers
21Diseases
2Drugs
4Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
3',5'-cyclic-AMP phosphodiesterase activity3',5'-cyclic-GMP phosphodiesterase activitycalmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activitynegative regulation of renin secretion into blood streamhearing loss, autosomal dominant 74coronary artery diseasestrokeautosomal dominant nonsyndromic hearing loss
✦AI Summary

PDE1C is a calmodulin-dependent phosphodiesterase with dual specificity for the second messengers cAMP and cGMP 1. It functions as a key regulator of cyclic nucleotide signaling in multiple tissues, with particularly high expression in cardiac myocytes and vascular smooth muscle cells 23. Mechanistically, PDE1C hydrolyzes both cAMP and cGMP, thereby modulating the amplitude and duration of intracellular signaling cascades 1. In cardiac tissue, PDE1C specifically regulates the nitric oxide-sensitive guanylyl cyclase cGMP microdomain and influences contractility through cAMP/PKA and PI3K/AKT signaling pathways 32. In vascular contexts, PDE1C suppresses calcium influx in pericytes via cAMP/PKA signaling, promoting vasodilation and affecting hemodynamics 4. PDE1C dysregulation is implicated in multiple pathologies. Elevated PDE1C expression contributes to cardiac remodeling and heart failure by promoting myocyte apoptosis and hypertrophy 2. In vascular disease, PDE1C drives abdominal aortic aneurysm development through vascular smooth muscle cell senescence via SIRT1-dependent mechanisms 5. PDE1C is amplified in glioblastoma cells, driving proliferation, migration, and invasion 6. Additionally, PDE1C variants cause autosomal dominant nonsyndromic hearing loss by disrupting cAMP/cGMP cross-talk in inner and outer hair cells 1. Therapeutically, PDE1C inhibition shows promise for cardiac disease, aortic aneurysm, and potentially malignancies.

Sources cited
1
PDE1C is a calmodulin-dependent dual-specificity phosphodiesterase for cAMP and cGMP; dominant PDE1C variant causes autosomal dominant hearing loss
PMID: 29860631
2
PDE1C is the major PDE1 subfamily in human heart; PDE1 inhibition increases cGMP levels and regulates NO-GC-regulated cGMP microdomain affecting cardiac contractility
PMID: 38067187
3
PDE1C is upregulated in failing hearts; PDE1C deficiency attenuates cardiac myocyte apoptosis, hypertrophy, and pathological cardiac remodeling via cAMP/PKA signaling
PMID: 27791092
4
PDE1C in tumor pericytes suppresses calcium influx via cAMP/PKA signaling axis, promoting vasodilation and tumor metastasis
PMID: 40753165
5
PDE1C is induced in aortic aneurysm vascular smooth muscle cells and promotes SMC senescence via SIRT1-dependent mechanisms; PDE1C inhibition suppresses AAA development
PMID: 34312235
6
PDE1C is amplified in glioblastoma cells and drives proliferation, migration, and invasion through cell cycle and adhesion regulation
PMID: 25620587
7
Circular PDE1C regulates IL-1Ξ²-induced chondrocyte apoptosis, inflammation, and oxidative stress via miR-766-3p/SGTB axis in osteoarthritis
PMID: 39736775
Disease Associationsβ“˜21
hearing loss, autosomal dominant 74Open Targets
0.59Moderate
coronary artery diseaseOpen Targets
0.54Moderate
strokeOpen Targets
0.54Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
intelligenceOpen Targets
0.41Moderate
cardiovascular diseaseOpen Targets
0.39Weak
smoking cessationOpen Targets
0.39Weak
hypertensionOpen Targets
0.37Weak
intermittent vascular claudicationOpen Targets
0.37Weak
Recurrent thrombophlebitisOpen Targets
0.37Weak
obesityOpen Targets
0.36Weak
chronic kidney diseaseOpen Targets
0.35Weak
corneal neovascularizationOpen Targets
0.33Weak
Hepatitis, AlcoholicOpen Targets
0.33Weak
Neonatal sepsisOpen Targets
0.32Weak
non-alcoholic steatohepatitisOpen Targets
0.31Weak
COVID-19Open Targets
0.29Weak
necrotizing enterocolitisOpen Targets
0.28Weak
osteonecrosisOpen Targets
0.28Weak
Deafness, autosomal dominant, 74UniProt
Pathogenic Variants4
NM_001191058.4(PDE1C):c.86-1G>ALikely pathogenic
Hearing loss, autosomal dominant 74
β˜…β˜†β˜†β˜†2025
NM_001191057.4(PDE1C):c.1900C>T (p.Gln634Ter)Likely pathogenic
Hearing loss, autosomal dominant 74
β˜…β˜†β˜†β˜†2024β†’ Residue 634
NM_001191057.4(PDE1C):c.2061C>A (p.Tyr687Ter)Likely pathogenic
Hearing loss, autosomal dominant 74
β˜…β˜†β˜†β˜†2024β†’ Residue 687
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)Pathogenic
Autosomal dominant nonsyndromic hearing loss|Hearing loss, autosomal dominant 74
β˜†β˜†β˜†β˜†2018β†’ Residue 260
View on ClinVar β†—
Drug Targets2
DIPYRIDAMOLEApproved
3',5'-cyclic phosphodiesterase inhibitor
coronary artery disease
PENTOXIFYLLINEApproved
Adenosine A2 receptor antagonist
cardiovascular disease
Related Genes
PKIAShared pathway100%GNG13Protein interaction100%GNAT3Protein interaction98%CALM3Protein interaction97%CALML5Protein interaction97%CALML4Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
15%
Ovary
4%
Lung
3%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PDE1CPKIAGNG13GNAT3CALM3CALML5CALML4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14123
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.51–0.84]
RankingsWhere PDE1C stands among ~20K protein-coding genes
  • #10,526of 20,598
    Most Researched38
  • #676of 1,025
    FDA-Approved Drug Targets2
  • #3,815of 5,498
    Most Pathogenic Variants4
  • #7,274of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedPDE1C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cross-disorder and disease-specific pathways in dementia revealed by single-cell genomics.
PMID: 39265576
Cell Β· 2024
1.00
2
Circ-PDE1C/miR-766-3p/SGTB axis regulates the IL-1Ξ²-induced apoptosis, inflammation and oxidative stress in human chondrocytes.
PMID: 39736775
Adv Rheumatol Β· 2024
0.90
3
Pericytes promote metastasis by regulating tumor local vascular tone and hemodynamics.
PMID: 40753165
Nat Commun Β· 2025
0.80
4
Role of Phosphodiesterase 1 in the Regulation of Real-Time cGMP Levels and Contractility in Adult Mouse Cardiomyocytes.
PMID: 38067187
Cells Β· 2023
0.70
5
Cyclic nucleotide phosphodiesterase 1C contributes to abdominal aortic aneurysm.
PMID: 34312235
Proc Natl Acad Sci U S A Β· 2021
0.60