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GPD1L glycerol-3-phosphate dehydrogenase 1-like [ Homo sapiens (human) ]

Gene ID: 23171, updated on 26-May-2016
Official Symbol
GPD1Lprovided by HGNC
Official Full Name
glycerol-3-phosphate dehydrogenase 1-likeprovided by HGNC
Primary source
HGNC:HGNC:28956
See related
Ensembl:ENSG00000152642 HPRD:10008; MIM:611778; Vega:OTTHUMG00000155846
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPD1-L
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
Location:
3p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (32106511..32168715)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32148003..32210207)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 10 Neighboring gene zinc finger protein 860 Neighboring gene ribosomal protein L21 pseudogene 40 Neighboring gene ribosomal protein SA pseudogene 11 Neighboring gene keratin 18 pseudogene 15 Neighboring gene CKLF like MARVEL transmembrane domain containing 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Brugada syndrome 2
MedGen: C2673193 OMIM: 611777 GeneReviews: Brugada Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
NHGRI GWA Catalog
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Synthesis of PA, organism-specific biosystem (from REACTOME)
    Synthesis of PA, organism-specific biosystemIn the de novo synthesis of phosphatidic acid (PA), lysophosphatidic acid (LPA) is initially formed by the esterification of sn-1 by glycerol 3-phosphate acyltransferase (GPAT) from glycerol 3-phosph...
  • Triglyceride Biosynthesis, organism-specific biosystem (from REACTOME)
    Triglyceride Biosynthesis, organism-specific biosystemThe overall process of triglyceride (triacylglycerol) biosynthesis consists of four biochemical pathways: fatty acyl-CoA biosynthesis, conversion of fatty acyl-CoA to phosphatidic acid, conversion of...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IEA
Inferred from Electronic Annotation
more info
 
glycerol-3-phosphate dehydrogenase [NAD+] activity TAS
Traceable Author Statement
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
glycerol-3-phosphate dehydrogenase complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
glycerol-3-phosphate dehydrogenase 1-like protein
NP_055956.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023375.1 RefSeqGene

    Range
    5001..67205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_419

mRNA and Protein(s)

  1. NM_015141.3NP_055956.1  glycerol-3-phosphate dehydrogenase 1-like protein

    See identical proteins and their annotated locations for NP_055956.1

    Status: REVIEWED

    Source sequence(s)
    AI080105, AK292808, BC028726, BX283865, DA318838
    Consensus CDS
    CCDS33729.1
    UniProtKB/Swiss-Prot
    Q8N335
    Related
    ENSP00000282541, OTTHUMP00000208779, ENST00000282541, OTTHUMT00000341975
    Conserved Domains (3) summary
    pfam01210
    Location:7171
    NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
    pfam07479
    Location:194344
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    TIGR03376
    Location:7344
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    32106511..32168715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264983.2XP_005265040.1  

    Conserved Domains (3) summary
    pfam01210
    Location:7171
    NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
    pfam07479
    Location:206266
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    TIGR03376
    Location:7266
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
  2. XM_006713068.2XP_006713131.1  

    Conserved Domains (3) summary
    pfam01210
    Location:7124
    NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
    pfam07479
    Location:147297
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    TIGR03376
    Location:7297
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    32097981..32160183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)