PDE1C: Phosphodiesterase 1C
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
Gene Information Card
| Symbol | PDE1C |
|---|---|
| Full Name | Phosphodiesterase 1C |
| Gene Type | Protein-coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 5137 ncbi.nlm.nih.gov/gene/5137 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q14123 |
| OMIM ID | 171610 |
| HGNC ID | 8775 |
| Aliases | Cam-PDE 1C, Hcam3, PDE1C1, PDE1C2, PDE1C3, PDE1C4, PDE1C5 |
Description
PDE1C encodes a member of the cyclic nucleotide phosphodiesterase (PDE) family, specifically the PDE1 subfamily. This enzyme is calcium/calmodulin-dependent and hydrolyzes both cAMP and cGMP, playing a key role in cellular signaling by regulating intracellular cyclic nucleotide levels. PDE1C is expressed in various tissues, including brain, heart, and smooth muscle, and is involved in processes such as neurotransmission, vascular tone, and cardiac function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Altered PDE1C expression affects cAMP/cGMP signaling in vascular smooth muscle, contributing to hypertension and atherosclerosis. | PMID: 25635007 |
| Neurological disorders | PDE1C modulates dopamine and glutamate signaling; dysregulation linked to schizophrenia and cognitive deficits. | PMID: 21858108 |
| Cancer | PDE1C overexpression in certain tumors (e.g., glioblastoma) promotes proliferation via cAMP pathway modulation. | COSMIC: PDE1C |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Smooth muscle | 6.7 | Low |
| Lung | 4.2 | Low |
| Testis | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 5.4 | Lung carcinoma cells |
| HUVEC | 7.1 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced catalytic activity; associated with altered cAMP hydrolysis |
| c.567G>A (p.Glu189Lys) | Missense | 0.005% | Unknown functional effect; rare variant |
| c.2345_2346insA | Frameshift | <0.001% | Loss of function; predicted protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt catalytic domain reduce or abolish PDE activity.
Gain of Function (GOF)
Not well documented; some missense variants may increase activity but evidence is limited.
Dominant Negative (DN)
No known dominant-negative mutations reported for PDE1C.
View complete mutation data：
Gene Ontology (GO)
| • 3' | • 5'-cyclic-nucleotide phosphodiesterase activity |
| • calmodulin binding | • calcium ion binding |
| • cAMP catabolic process | • cGMP catabolic process |
| • signal transduction |
Pathways
• cAMP signaling pathway
• cGMP-PKG signaling pathway
• Calcium signaling pathway
Protein Summary
PDE1C is a calcium/calmodulin-dependent phosphodiesterase that hydrolyzes both cAMP and cGMP. The protein contains a catalytic domain and two calcium-binding EF-hand motifs. Alternative splicing generates multiple isoforms with distinct regulatory properties and tissue distributions. PDE1C is implicated in cardiovascular and neurological functions and is a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE1C Knockout HEK293 Cell Line | EDJ-KQ1643 | Human | 5137 | Details Get a Quote |
| PDE1C Knockout A-549 Cell Line | EDJ-KQ21370 | Human | 5137 | Details Get a Quote |
| PDE1C Knockout HeLa Cell Line | EDJ-KQ21371 | Human | 5137 | Details Get a Quote |
| PDE1C Knockout HCT 116 Cell Line | EDJ-KQ71058 | Human | 5137 | Details Get a Quote |
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