GPD1L - glycerol-3-phosphate dehydrogenase 1 like Gene

Also Known as GPD1-L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23171

About GPD1L

Cytogenetic location: 3p22.3 Genomic coordinates (GRCh38): 3:32,106,620-32,168,709 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in heart (RPKM 51.9), prostate (RPKM 37.6) and 23 other tissues.

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]

GPD1L Products (1)

mRNA	Protein	Name
NM_015141.4	NP_055956.1	glycerol-3-phosphate dehydrogenase 1-like protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA
enables sodium channel regulator activity	IMP IMP: Inferred from mutant phenotype	17967977	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	19666841	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in NAD metabolic process	IMP IMP: Inferred from mutant phenotype	19745168	GOA
involved in positive regulation of protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	17967977	GOA
involved in positive regulation of sodium ion transport	IMP IMP: Inferred from mutant phenotype	17967977	GOA
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	17967977	GOA
involved in regulation of ventricular cardiac muscle cell membrane depolarization	IMP IMP: Inferred from mutant phenotype	17967977	GOA
involved in ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17967977	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	17967977	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPD1L Protein Structure

NAD_Gly3P_dh_N

NAD_Gly3P_dh_C

0
100
200
300
351 a.a.

Protein Preferred Names	Protein Names
glycerol-3-phosphate dehydrogenase 1-like protein

Recombinant GPD1L Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700390	GPD1L Protein, Human (GST)	Q8N335 (M1-T351)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Brugada Syndrome 2	BRGDA2 Brugada Syndrome, Type 2
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Brugada Syndrome 1	BRGDA1 Sudden Unexplained Nocturnal Death Syndrome Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sunds Brugada Syndrome, Type 1 Brugada Syndrome
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05634	GPD1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21586	Gpd1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28104	Gpd1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GPD1L	VGNC	VGNC:29530
Canis familiaris	GPD1L	VGNC	VGNC:41377
Mus musculus	GPD1L	MGD	MGI:1289257
Macaca mulatta	GPD1L	VGNC	VGNC:73024
Felis catus	GPD1L	VGNC	VGNC:62663
Rattus norvegicus	GPD1L	RGD	RGD:1560123
Others	GPD1L	NCBI