Format

Send to:

Choose Destination

GPD1 glycerol-3-phosphate dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 2819, updated on 8-May-2016
Official Symbol
GPD1provided by HGNC
Official Full Name
glycerol-3-phosphate dehydrogenase 1provided by HGNC
Primary source
HGNC:HGNC:4455
See related
Ensembl:ENSG00000167588 HPRD:00714; MIM:138420; Vega:OTTHUMG00000169813
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
GPD-C; HTGTI; GPDH-C
Summary
This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Orthologs
Location:
12q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (50103819..50111320)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50497602..50505103)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene acid sensing ion channel subunit 1 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 Neighboring gene COX14 cytochrome c oxidase assembly factor Neighboring gene uncharacterized LOC101927340 Neighboring gene ceramide synthase 5 Neighboring gene LIM domain and actin binding 1 Neighboring gene microRNA 1293

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • 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...
  • Triacylglyceride Synthesis, organism-specific biosystem (from WikiPathways)
    Triacylglyceride Synthesis, organism-specific biosystem
    Triacylglyceride Synthesis
  • 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...
  • glycerol-3-phosphate shuttle, organism-specific biosystem (from BIOCYC)
    glycerol-3-phosphate shuttle, organism-specific biosystemGeneral Background The rates of oxidation and reduction of : NAD and : NADH must be continuously balanced within the cell to maintain the pathways of anabolism and catabolism. : NADH produced in th...
  • glycerol-3-phosphate shuttle, conserved biosystem (from BIOCYC)
    glycerol-3-phosphate shuttle, conserved biosystemThe rates of oxidation and reduction of NAD and NADH must be balanced for the continuation of both catabolism and anabolism. NADH, produced in the cytosol during glycolysis, need to be oxidized to NA...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ26652

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
 
glycerol-3-phosphate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
glycerol-3-phosphate catabolic process IEA
Inferred from Electronic Annotation
more info
 
glycerophosphate shuttle IEA
Inferred from Electronic Annotation
more info
 
phosphatidic acid biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of glycolytic process IEA
Inferred from Electronic Annotation
more info
 
triglyceride biosynthetic process TAS
Traceable Author Statement
more info
 
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
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic
Names
glycerol-3-phosphate dehydrogenase 1 (soluble)
glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic
glycerophosphate dehydrogenase
NP_001244128.1
NP_005267.2

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_032168.1 RefSeqGene

    Range
    5001..12502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257199.1NP_001244128.1  glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI245302, AK130162, CA307120, CD244782, DC305085, DC310521
    Consensus CDS
    CCDS58229.1
    UniProtKB/Swiss-Prot
    P21695
    Related
    ENSP00000446768, OTTHUMP00000242174, ENST00000548814, OTTHUMT00000406021
    Conserved Domains (3) summary
    pfam01210
    Location:5149
    NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
    pfam07479
    Location:169319
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    TIGR03376
    Location:5319
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
  2. NM_005276.3NP_005267.2  glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 1

    See identical proteins and their annotated locations for NP_005267.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI245302, AK130162, BC032234, CA307120, CD244782, DC305085, DC310521
    Consensus CDS
    CCDS8799.1
    UniProtKB/Swiss-Prot
    P21695
    UniProtKB/TrEMBL
    A0A024R138
    Related
    ENSP00000301149, OTTHUMP00000242172, ENST00000301149, OTTHUMT00000406018
    Conserved Domains (3) summary
    pfam01210
    Location:5172
    NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
    pfam07479
    Location:192342
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    TIGR03376
    Location:5342
    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_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    50103819..50111320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    50463752..50471253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)