PDE1C Gene

HGNC Family	Phosphodiesterases (PDE)
Name	phosphodiesterase 1C, calmodulin-dependent 70kDa
Description	This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPhosphodiesterase 1C (PDE1C) plays a central role in integrating cyclic nucleotide and calcium signaling in various tissues. In the human heart, PDE1C1 is the predominant isoform expressed in the myocardium, localizing in a distinct striated pattern along the Z- and M-lines of cardiac myocytes. It hydrolyzes both cAMP and cGMP with similar catalytic rates, thereby contributing significantly to the soluble fraction’s phosphodiesterase activity and potentially linking cGMP-, cAMP-, and Ca²⁺-mediated signals in cardiac function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn human myometrial cells, PDE1C expression contrasts with that of other phosphodiesterases during cell cycle changes. Specifically, while PDE5 levels rise in quiescent, contractile smooth muscle cells, PDE1C protein levels decrease under conditions that inhibit cell proliferation, indicating that PDE1C activity is closely associated with the proliferative state of these cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the context of glioblastoma multiforme, a focal genomic amplification of PDE1C has been observed, leading to its overexpression in tumor cultures. This up-regulation of PDE1C drives key oncogenic processes such as cell proliferation, migration, and invasion through downstream effectors involved in cell cycle regulation and cell adhesion, underscoring its potential as a therapeutic target in aggressive brain tumors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nA missense mutation in PDE1C (c.958G>T, p.A320S) has been linked to progressive, postlingual autosomal dominant nonsyndromic hearing loss. Structural modeling suggests that this variant disrupts the substrate-binding pocket, altering PDE1C’s hydrolytic activity toward both cAMP and cGMP, and thereby potentially disturbing the cross talk between these cyclic nucleotide signaling pathways and calcium homeostasis in cochlear hair cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn vascular pathology, PDE1C expression is markedly induced in dedifferentiated and aging vascular smooth muscle cells during the development of abdominal aortic aneurysm. PDE1C appears to promote cellular senescence via a mechanism that involves increased cAMP signaling and subsequent activation of SIRT1. Both genetic deletion and pharmacological inhibition of PDE1C result in reduced aneurysm formation, emphasizing its causative role in vascular degeneration and the potential for targeted therapy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, in human arterial smooth muscle cells, store-operated Ca²⁺ entry activates PDE1C, which in turn hydrolyzes cAMP in a localized manner. This activity regulates the formation of leading-edge cellular protrusions that are critical for cell migration, thereby linking Ca²⁺ influx with fine-tuned cAMP signaling. Such spatial specificity of PDE1C activity highlights its significant role in modulating cellular motility and suggests that selective inhibition may have therapeutic benefits in conditions associated with aberrant smooth muscle cell migration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Fabrice Vandeput, Sharon L Wolda, Judith Krall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cyclic nucleotide phosphodiesterase PDE1C1 in human cardiac myocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M703173200"}], "href": "https://doi.org/10.1074/jbc.M703173200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17726023"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17726023"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Susanna Dolci, Alessia Belmonte, Rocco Santone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Subcellular localization and regulation of type-1C and type-5 phosphodiesterases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2006.01.035"}], "href": "https://doi.org/10.1016/j.bbrc.2006.01.035"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16455054"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16455054"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Farjana B Rowther, Weinbin Wei, Timothy P Dawson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cyclic nucleotide phosphodiesterase-1C (PDE1C) drives cell proliferation, migration and invasion in glioblastoma multiforme cells in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Carcinog (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mc.22276"}], "href": "https://doi.org/10.1002/mc.22276"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25620587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25620587"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Li Wang, Yong Feng, Denise Yan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-018-1895-y"}], "href": "https://doi.org/10.1007/s00439-018-1895-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29860631"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29860631"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chongyang Zhang, Hongmei Zhao, Yujun Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cyclic nucleotide phosphodiesterase 1C contributes to abdominal aortic aneurysm."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2107898118"}], "href": "https://doi.org/10.1073/pnas.2107898118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34312235"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34312235"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Paulina Brzezinska, Nicholas J Simpson, Fabien Hubert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Phosphodiesterase 1C integrates store-operated calcium entry and cAMP signaling in leading-edge protrusions of migrating human arterial myocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jbc.2021.100606"}], "href": "https://doi.org/10.1016/j.jbc.2021.100606"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33789162"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33789162"}]}]}]}
Synonyms	HCAM3, HCAM-3, CAM-PDE 1C, DFNA74
Proteins	PDE1C_HUMAN
NCBI Gene ID	5137
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PDE1C has 5,527 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 126 datasets.

Click the + buttons to view associations for PDE1C from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PDE1C 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 PDE1C 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 PDE1C 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 PDE1C 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 PDE1C 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 PDE1C 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 PDE1C 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 PDE1C 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 PDE1C gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PDE1C gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PDE1C gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PDE1C 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 PDE1C gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PDE1C protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PDE1C 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 PDE1C gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PDE1C 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 PDE1C gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PDE1C gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PDE1C gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PDE1C protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PDE1C protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing PDE1C protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PDE1C 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 PDE1C 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 PDE1C gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PDE1C gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PDE1C gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PDE1C gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PDE1C 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 PDE1C gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PDE1C gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PDE1C gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PDE1C gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PDE1C 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 PDE1C 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 PDE1C gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PDE1C gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for PDE1C protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PDE1C 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 PDE1C gene from the ENCODE Transcription Factor Binding Site Profiles dataset.