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

    Gene ID: 2819, updated on 21-May-2017
    Official Symbol
    GPD1provided by HGNC
    Official Full Name
    glycerol-3-phosphate dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:4455
    See related
    Ensembl:ENSG00000167588 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
    108 current GRCh38.p7 (GCF_000001405.33) 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 ceramide synthase 5

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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 Biosynthetic Pathway, organism-specific biosystem (from WikiPathways)
      Glycerophospholipid Biosynthetic Pathway, organism-specific biosystemGlycerophospholipids or phosphoglycerides, in which the hydrophobic regions are composed of two fatty acids joined to glycerol; and sphingolipids, in which a single fatty acid is joined to a fatty am...
    • 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
     
    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
      ENSP00000446768.1, OTTHUMP00000242174, ENST00000548814.1, OTTHUMT00000406021
      Conserved Domains (3) summary
      TIGR03376
      Location:5319
      glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
      pfam01210
      Location:5149
      NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
      pfam07479
      Location:171312
      NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    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
      ENSP00000301149.3, OTTHUMP00000242172, ENST00000301149.7, OTTHUMT00000406018
      Conserved Domains (3) summary
      TIGR03376
      Location:5342
      glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
      pfam01210
      Location:5172
      NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
      pfam07479
      Location:194335
      NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 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)
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