GPD1L (Glycerol-3-Phosphate Dehydrogenase 1 Like)
A key regulator of cardiac sodium channel function and Brugada syndrome susceptibility
Gene Information Card
| Symbol | GPD1L |
|---|---|
| Full Name | Glycerol-3-Phosphate Dehydrogenase 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 23171 ncbi.nlm.nih.gov/gene/23171 |
| Ensembl ID | ENSG00000152669 |
| UniProt ID | Q8N335 |
| OMIM ID | 611778 |
| HGNC ID | 28956 |
| Aliases | GPD1L, GPD1-L, MGC20785 |
Description
GPD1L encodes a member of the glycerol-3-phosphate dehydrogenase family. The protein is localized to the cytoplasm and mitochondria and is involved in glycerol-3-phosphate metabolism. Importantly, GPD1L interacts with and modulates the cardiac sodium channel Nav1.5 (encoded by SCN5A). Mutations in GPD1L reduce sodium current and are associated with Brugada syndrome, a condition predisposing to ventricular arrhythmias and sudden cardiac death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brugada syndrome 2 | Reduced cardiac sodium current (INa) due to impaired Nav1.5 trafficking or function | OMIM #611777; ClinVar; PMID 19129544 |
| Sudden cardiac death | Arrhythmogenic substrate from reduced INa | ClinVar; PMID 19129544 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Medium |
| Skeletal muscle | 4.8 | Medium |
| Liver | 3.1 | Low |
| Kidney | 2.7 | Low |
| Brain | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 5.0 | Primary heart cells |
| HEK 293 | 3.5 | Model cell line |
| HeLa | 2.1 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.688G>A (p.Gly230Ser) | Missense | Rare | Reduces INa; associated with Brugada syndrome |
| c.1127G>A (p.Arg376His) | Missense | Rare | Reduces INa; associated with Brugada syndrome |
Mutation functional classification
Loss of Function (LOF)
Yes – missense mutations reduce sodium current by impairing Nav1.5 function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
Possible – mutant GPD1L may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • glycerol-3-phosphate dehydrogenase activity (GO:0004368) | • mitochondrion (GO:0005739) |
| • cytosol (GO:0005829) | • oxidation-reduction process (GO:0055114) |
| • regulation of cardiac muscle cell action potential (GO:0086091) |
Pathways
• Glycerophospholipid metabolism (Reactome R-HSA-1483206)
• Cardiac conduction (Reactome R-HSA-5576891)
Protein Summary
GPD1L is a 351-amino acid protein that functions as a glycerol-3-phosphate dehydrogenase. It is highly expressed in heart and skeletal muscle. The protein interacts with the cardiac sodium channel Nav1.5, and mutations lead to reduced sodium current, contributing to Brugada syndrome. It plays a role in cellular redox balance and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPD1L Knockout HEK293 Cell Line | EDJ-KQ3743 | Human | 23171 | Details Get a Quote |
| GPD1L Knockout A-549 Cell Line | EDJ-KQ25807 | Human | 23171 | Details Get a Quote |
| GPD1L Knockout HCT 116 Cell Line | EDJ-KQ25808 | Human | 23171 | Details Get a Quote |
| GPD1L Knockout HeLa Cell Line | EDJ-KQ25809 | Human | 23171 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
