PDE1B: Calmodulin-Dependent Phosphodiesterase in Neurotransmission and Disease
A comprehensive biomedical resource for PDE1B gene, including genomic annotation, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | PDE1B |
|---|---|
| Full Name | phosphodiesterase 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 5153 ncbi.nlm.nih.gov/gene/5153 |
| Ensembl ID | ENSG00000123360 |
| UniProt ID | Q01064 |
| OMIM ID | 171891 |
| HGNC ID | 8776 |
| Aliases | PDE1B1, PDE1B2, CAM-PDE 1B, HCPDE1B |
Description
PDE1B encodes a calmodulin-dependent cyclic nucleotide phosphodiesterase that hydrolyzes cAMP and cGMP. It is highly expressed in brain and plays roles in dopamine signaling, learning, and memory. Alternative splicing yields isoforms with distinct regulatory properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered PDE1B expression may disrupt dopamine signaling and cAMP/cGMP homeostasis in striatum. | Association studies; PMID: 20628055 |
| Parkinson's disease | PDE1B inhibition is neuroprotective in models; dysregulation contributes to motor deficits. | Preclinical studies; PMID: 23395172 |
| Major depressive disorder | PDE1B variants linked to treatment response; modulation of cAMP signaling. | GWAS; PMID: 25644384 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 15.3 | Medium |
| Heart | 3.2 | Low |
| Liver | 1.1 | Not detected |
| Testis | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuroblastoma; high PDE1B expression |
| HEK293 | 4.5 | Low endogenous expression |
| U-87 MG | 6.8 | Glioblastoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging; SIFT/PolyPhen |
| c.1120_1122del (p.Phe374del) | In-frame deletion | <0.01% | Alters calmodulin-binding domain |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly163Arg) predicted to reduce catalytic activity.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not documented for PDE1B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• cAMP signaling pathway (Reactome: R-HSA-418555)
• cGMP-PKG signaling pathway (Reactome: R-HSA-418594)
• Dopamine-DARPP32 feedback in cAMP signaling (Reactome: R-HSA-180024)
Protein Summary
PDE1B is a 536-amino acid calmodulin-dependent phosphodiesterase that hydrolyzes both cAMP and cGMP. It contains two N-terminal Ca2+/calmodulin-binding domains and a catalytic domain. The protein is predominantly cytosolic and highly expressed in brain, where it modulates dopaminergic and glutamatergic signaling. Alternative splicing produces isoforms PDE1B1 and PDE1B2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE1B Knockout HEK293 Cell Line | EDJ-KQ1642 | Human | 5153 | Details Get a Quote |
| PDE1B Knockout HeLa Cell Line | EDJ-KQ54107 | Human | 5153 | Details Get a Quote |
| PDE1B Knockout A-549 Cell Line | EDJ-KQ62594 | Human | 5153 | Details Get a Quote |
| PDE1B Knockout HCT 116 Cell Line | EDJ-KQ71067 | Human | 5153 | Details Get a Quote |
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