POPDC1 (Popeye Domain Containing 1)
A cardiac and skeletal muscle-specific cAMP-binding protein involved in heart rhythm and muscle regeneration
Gene Information Card
| Symbol | POPDC1 |
|---|---|
| Full Name | Popeye Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | O94827 |
| OMIM ID | 602579 |
| HGNC ID | 17640 |
| Aliases | POP1, BVESL1, POPDC1 |
Description
POPDC1 encodes a transmembrane protein belonging to the Popeye family, characterized by a conserved Popeye domain that binds cAMP. It is predominantly expressed in cardiac and skeletal muscle and plays a critical role in heart rate regulation, muscle cell fusion, and regeneration. Mutations in POPDC1 are associated with cardiac arrhythmias and limb-girdle muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy type R25 (LGMDR25) | Loss-of-function mutations impair muscle cell fusion and regeneration, leading to progressive muscle weakness | ClinVar, OMIM |
| Cardiac arrhythmia (atrial fibrillation, sinus node dysfunction) | Disrupted cAMP signaling alters ion channel regulation, causing abnormal heart rhythm | ClinVar, OMIM |
| Myocardial infarction susceptibility | Reduced POPDC1 expression impairs cardiac repair after ischemic injury | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 32.5 | High |
| Skeletal muscle | 28.1 | High |
| Smooth muscle | 4.2 | Low |
| Brain | 1.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 45.2 | High expression |
| Skeletal muscle myoblasts (C2C12) | 38.7 | High expression |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Pro82Leu) | Missense | Rare | Loss of cAMP binding, associated with arrhythmia |
| c.412G>A (p.Glu138Lys) | Missense | Rare | Impaired membrane localization, linked to LGMDR25 |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein, severe muscular dystrophy |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations that disrupt cAMP binding or membrane targeting reduce protein activity, leading to muscle and cardiac phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POPDC1.
Dominant Negative (DN)
Some missense mutations (e.g., p.Pro82Leu) may exert dominant-negative effects by interfering with wild-type protein dimerization.
View complete mutation data：
Gene Ontology (GO)
| • cAMP binding | • transmembrane signaling receptor activity |
| • regulation of heart contraction | • muscle cell differentiation |
| • cell-cell junction organization | • plasma membrane |
Pathways
• cAMP signaling pathway
• Cardiac conduction
• Muscle regeneration
Protein Summary
POPDC1 is a 355-amino acid transmembrane protein with an N-terminal extracellular domain, a single transmembrane helix, and a cytoplasmic Popeye domain that binds cAMP. It localizes to the plasma membrane and intercalated discs in cardiomyocytes, where it modulates ion channel activity and cell adhesion. In skeletal muscle, it promotes myoblast fusion and regeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POPDC1 Knockout HEK293 Cell Line | EDJ-KQ12582 | Human | 11149 | Details Get a Quote |
| POPDC1 Knockout A-549 Cell Line | EDJ-KQ41606 | Human | 11149 | Details Get a Quote |
| POPDC1 Knockout HCT 116 Cell Line | EDJ-KQ41607 | Human | 11149 | Details Get a Quote |
| POPDC1 Knockout HeLa Cell Line | EDJ-KQ41608 | Human | 11149 | Details Get a Quote |
