Gene/Proteome Database (LMPD)

LMPD ID
LMP012353
Gene ID
23171
Species
Homo sapiens (Human)
Gene Name
glycerol-3-phosphate dehydrogenase 1-like
Gene Symbol
GPD1L
Synonyms
GPD1-L;
Chromosome
3
Map Location
3p22.3
EC Number
1.1.1.8;
Summary
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]
Orthologs
View orthologs and multiple alignments for GPD1L

Proteins

glycerol-3-phosphate dehydrogenase 1-like protein
Refseq ID NP_055956
Protein GI 24307999
UniProt ID Q8N335
mRNA ID NM_015141
Length 351
MAAAPLKVCIVGSGNWGSAVAKIIGNNVKKLQKFASTVKMWVFEETVNGRKLTDIINNDHENVKYLPGHKLPENVVAMSNLSEAVQDADLLVFVIPHQFIHRICDEITGRVPKKALGITLIKGIDEGPEGLKLISDIIREKMGIDISVLMGANIANEVAAEKFCETTIGSKVMENGLLFKELLQTPNFRITVVDDADTVELCGALKNIVAVGAGFCDGLRCGDNTKAAVIRLGLMEMIAFARIFCKGQVSTATFLESCGVADLITTCYGGRNRRVAEAFARTGKTIEELEKEMLNGQKLQGPQTSAEVYRILKQKGLLDKFPLFTAVYQICYESRPVQEMLSCLQSHPEHT

Gene Information

Entrez Gene ID
23171
Gene Name
glycerol-3-phosphate dehydrogenase 1-like
Gene Symbol
GPD1L
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005829 TAS:Reactome C cytosol
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0009331 IEA:InterPro C glycerol-3-phosphate dehydrogenase complex
GO:0005886 IDA:BHF-UCL C plasma membrane
GO:0051287 IEA:InterPro F NAD binding
GO:0004367 IEA:UniProtKB-EC F glycerol-3-phosphate dehydrogenase [NAD+] activity
GO:0044325 IPI:BHF-UCL F ion channel binding
GO:0017080 IMP:BHF-UCL F sodium channel regulator activity
GO:0019674 IMP:BHF-UCL P NAD metabolic process
GO:0006734 IEA:Ensembl P NADH metabolic process
GO:0005975 IEA:InterPro P carbohydrate metabolic process
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0046168 IEA:InterPro P glycerol-3-phosphate catabolic process
GO:0046474 TAS:Reactome P glycerophospholipid biosynthetic process
GO:0033137 IMP:BHF-UCL P negative regulation of peptidyl-serine phosphorylation
GO:0090038 IMP:BHF-UCL P negative regulation of protein kinase C signaling
GO:0006654 TAS:Reactome P phosphatidic acid biosynthetic process
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:2000010 IMP:BHF-UCL P positive regulation of protein localization to cell surface
GO:0010765 IMP:BHF-UCL P positive regulation of sodium ion transport
GO:0002027 IMP:BHF-UCL P regulation of heart rate
GO:2000649 IMP:BHF-UCL P regulation of sodium ion transmembrane transporter activity
GO:0060373 IMP:BHF-UCL P regulation of ventricular cardiac muscle cell membrane depolarization
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0019432 TAS:Reactome P triglyceride biosynthetic process
GO:0086005 IMP:BHF-UCL P ventricular cardiac muscle cell action potential

KEGG Pathway Links

KEGG Pathway ID Description
hsa00564 Glycerophospholipid metabolism
ko00564 Glycerophospholipid metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_22279 Fatty acid, triacylglycerol, and ketone body metabolism
REACT_121401 Glycerophospholipid biosynthesis
REACT_111217 Metabolism
REACT_22258 Metabolism of lipids and lipoproteins
REACT_120870 Phospholipid metabolism
REACT_120906 Synthesis of PA
REACT_1190 Triglyceride Biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
IPR013328 Dehydrogenase, multihelical
IPR006168 Glycerol-3-phosphate dehydrogenase, NAD-dependent
IPR006109 Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal
IPR011128 Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal
IPR017751 Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic
IPR016040 NAD(P)-binding domain

UniProt Annotations

Entry Information

Gene Name
glycerol-3-phosphate dehydrogenase 1-like
UniProt ID
Q8N335
Species
Human

Comments

Comment Type Description
Catalytic Activity sn-glycerol 3-phosphate + NAD(+) = glycerone phosphate + NADH.
Disease Brugada syndrome 2 (BRGDA2) [MIM:611777]: A 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 Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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
Sequence Caution Sequence=BAA07648.1; Type=Erroneous initiation; Evidence= ;
Similarity Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family
Subcellular Location Cytoplasm Note=Localized to the region of the plasma membrane.
Subunit Interacts with SCN5A. {ECO:0000269|PubMed:19666841, ECO:0000269|Ref.8}.
Tissue Specificity Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs

Identical and Related Proteins

Unique RefSeq proteins for LMP012353 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
24307999 RefSeq NP_055956 351 glycerol-3-phosphate dehydrogenase 1-like protein

Identical Sequences to LMP012353 proteins

Reference Database Accession Length Protein Name

Related Sequences to LMP012353 proteins

Reference Database Accession Length Protein Name