GPD1L Gene Summary [Human]
The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | GPD1L |
| Official Name | glycerol-3-phosphate dehydrogenase 1 like [Source:HGNC Symbol;Acc:HGNC:28956] |
| Ensembl ID | ENSG00000152642 |
| Bio databases IDs | |
| Aliases | glycerol-3-phosphate dehydrogenase 1 like |
| Synonyms | 2210409H23RIK, D9Ertd660e, glycerol-3-phosphate dehydrogenase 1-like, Gpd1l1, RGD1560123 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GPD1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
- NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
- glycerol-3-phosphate dehydrogenase (NAD(+))
- ion channel binding
- sodium channel regulator
- enzyme
- protein binding
- Bacterial GPD, NAD-dependent C-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- systemic lupus erythematosus
- renal cell carcinoma
- renal cell cancer
- organismal death
- Brugada syndrome
- Brugada syndrome type 1
- Brugada syndrome type 2
- early missed abortion
- sudden infant death syndrome
role in cell
- apoptosis
- expression in
- proliferation
- migration
- transmembrane potential
- colony formation
- generation in
- invasion by
- mitophagy in
- lipotoxicity in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GPD1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein kinase C signaling cascade
- positive regulation of protein localization at cell surface
- regulation of ventricular cardiomyocyte membrane depolarization
- regulation of ventricular cardiac muscle cell action potential
- NADH oxidation
- carbohydrate metabolic process
- regulation of heart rate
- glycerol-3-phosphate catabolic process
- regulation of sodium ion transmembrane transporter activity
- negative regulation of peptidyl-serine phosphorylation
- NAD metabolic process
- positive regulation of sodium ion transport
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- protein homodimerization activity
- NAD binding
- glycerol-3-phosphate dehydrogenase [NAD(P)+] activity
- ion channel binding