InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GPD1L

Summary

InnateDB Protein

IDBP-23628.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GPD1L

Protein Name

glycerol-3-phosphate dehydrogenase 1-like

Synonyms

GPD1-L;

Species

Homo sapiens

Ensembl Protein

ENSP00000282541

InnateDB Gene

IDBG-23626 (GPD1L)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:19666841, ECO:0000269PubMed:19745168}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17967977}. Note=Localized to the region of the plasma membrane.

Disease Associations

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. {ECO:0000269PubMed:17967977}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:17967976}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs. {ECO:0000269PubMed:17967977}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004367	glycerol-3-phosphate dehydrogenase [NAD+] activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0017080	sodium channel regulator activity
GO:0042803	protein homodimerization activity
GO:0044325	ion channel binding
GO:0051287	NAD binding

Biological Process

GO:0002027	regulation of heart rate
GO:0005975	carbohydrate metabolic process
GO:0006072	glycerol-3-phosphate metabolic process
GO:0006644	phospholipid metabolic process
GO:0006654	phosphatidic acid biosynthetic process
GO:0006734	NADH metabolic process
GO:0010765	positive regulation of sodium ion transport
GO:0019432	triglyceride biosynthetic process
GO:0019674	NAD metabolic process
GO:0033137	negative regulation of peptidyl-serine phosphorylation
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0046168	glycerol-3-phosphate catabolic process
GO:0046474	glycerophospholipid biosynthetic process
GO:0055114	oxidation-reduction process
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization
GO:0086005	ventricular cardiac muscle cell action potential
GO:0090038	negative regulation of protein kinase C signaling
GO:2000010	positive regulation of protein localization to cell surface
GO:2000649	regulation of sodium ion transmembrane transporter activity

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0009331	glycerol-3-phosphate dehydrogenase complex
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR006109 Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal
IPR006168 Glycerol-3-phosphate dehydrogenase, NAD-dependent
IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
IPR011128 Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal
IPR017751 Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic

PFAM

PF07479
PF01210

PRINTS

PR00077

PIRSF

PIRSF000114

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt