Q8N335 · GPD1L_HUMAN
- ProteinGlycerol-3-phosphate dehydrogenase 1-like protein
- GeneGPD1L
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids351 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L.
Catalytic activity
- NAD+ + sn-glycerol 3-phosphate = dihydroxyacetone phosphate + H+ + NADHThis reaction proceeds in the forward direction.
Features
Showing features for binding site, active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 12-17 | NAD+ (UniProtKB | ChEBI) | ||||
Sequence: GSGNWG | ||||||
Binding site | 122 | substrate | ||||
Sequence: K | ||||||
Binding site | 155 | NAD+ (UniProtKB | ChEBI) | ||||
Sequence: A | ||||||
Active site | 206 | Proton acceptor | ||||
Sequence: K | ||||||
Binding site | 271 | NAD+ (UniProtKB | ChEBI) | ||||
Sequence: R | ||||||
Binding site | 271-272 | substrate | ||||
Sequence: RN | ||||||
Binding site | 298 | NAD+ (UniProtKB | ChEBI) | ||||
Sequence: K | ||||||
Binding site | 300 | NAD+ (UniProtKB | ChEBI) | ||||
Sequence: Q |
GO annotations
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Chemistry
Names & Taxonomy
Protein names
- Recommended nameGlycerol-3-phosphate dehydrogenase 1-like protein
- EC number
- Short namesGPD1-L
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N335
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localized to the region of the plasma membrane.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Brugada syndrome 2 (BRGDA2)
- Note
- DescriptionA tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
- See alsoMIM:611777
Natural variants in BRGDA2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_044044 | 83 | E>K | in BRGDA2; uncertain significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552292 | |
VAR_044045 | 124 | I>V | in BRGDA2; uncertain significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552293 | |
VAR_044046 | 273 | R>C | in BRGDA2; uncertain significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552294 | |
VAR_044047 | 280 | A>V | in BRGDA2; uncertain significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552291 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_044044 | 83 | in BRGDA2; uncertain significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552292 | |||
Sequence: E → K | ||||||
Natural variant | VAR_044045 | 124 | in BRGDA2; uncertain significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552293 | |||
Sequence: I → V | ||||||
Natural variant | VAR_032114 | 178 | in dbSNP:rs35447795 | |||
Sequence: L → F | ||||||
Natural variant | VAR_044046 | 273 | in BRGDA2; uncertain significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552294 | |||
Sequence: R → C | ||||||
Natural variant | VAR_044047 | 280 | in BRGDA2; uncertain significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells; dbSNP:rs72552291 | |||
Sequence: A → V |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 378 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000286511 | 1-351 | UniProt | Glycerol-3-phosphate dehydrogenase 1-like protein | |||
Sequence: MAAAPLKVCIVGSGNWGSAVAKIIGNNVKKLQKFASTVKMWVFEETVNGRKLTDIINNDHENVKYLPGHKLPENVVAMSNLSEAVQDADLLVFVIPHQFIHRICDEITGRVPKKALGITLIKGIDEGPEGLKLISDIIREKMGIDISVLMGANIANEVAAEKFCETTIGSKVMENGLLFKELLQTPNFRITVVDDADTVELCGALKNIVAVGAGFCDGLRCGDNTKAAVIRLGLMEMIAFARIFCKGQVSTATFLESCGVADLITTCYGGRNRRVAEAFARTGKTIEELEKEMLNGQKLQGPQTSAEVYRILKQKGLLDKFPLFTAVYQICYESRPVQEMLSCLQSHPEHT | |||||||
Modified residue (large scale data) | 309 | PRIDE | Phosphotyrosine | ||||
Sequence: Y |
Proteomic databases
PTM databases
Expression
Tissue specificity
Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with SCN5A.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8N335 | SLAMF8 Q9P0V8 | 2 | EBI-13644267, EBI-18164173 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length351
- Mass (Da)38,419
- Last updated2002-10-01 v1
- Checksum74C3B27EEB41DE89
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
D42047 EMBL· GenBank· DDBJ | BAA07648.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK292808 EMBL· GenBank· DDBJ | BAF85497.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471055 EMBL· GenBank· DDBJ | EAW64422.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC006168 EMBL· GenBank· DDBJ | AAH06168.1 EMBL· GenBank· DDBJ | mRNA | ||
BC028726 EMBL· GenBank· DDBJ | AAH28726.1 EMBL· GenBank· DDBJ | mRNA |