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Aliases for GPD1 Gene

Aliases for GPD1 Gene

  • Glycerol-3-Phosphate Dehydrogenase 1 2 3 5
  • Glycerol-3-Phosphate Dehydrogenase 1 (Soluble) 2 3
  • GPDH-C 3 4
  • GPD-C 3 4
  • Glycerol-3-Phosphate Dehydrogenase [NAD(+)], Cytoplasmic 3
  • Glycerol-3-Phosphate Dehydrogenase [NAD+], Cytoplasmic 3
  • Glycerophosphate Dehydrogenase 3
  • EC 4
  • HTGTI 3

External Ids for GPD1 Gene

Previous GeneCards Identifiers for GPD1 Gene

  • GC12P050792
  • GC12P050553
  • GC12P050214
  • GC12P048784
  • GC12P050497
  • GC12P047531

Summaries for GPD1 Gene

Entrez Gene Summary for GPD1 Gene

  • 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]

GeneCards Summary for GPD1 Gene

GPD1 (Glycerol-3-Phosphate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with GPD1 include Hypertriglyceridemia, Transient Infantile and Brugada Syndrome. Among its related pathways are Acyl chain remodelling of PE and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is GPD1L.

Additional gene information for GPD1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPD1 Gene

Genomics for GPD1 Gene

GeneHancer (GH) Regulatory Elements for GPD1 Gene

Promoters and enhancers for GPD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J050102 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.6 649 4.4 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 GLIS2 SP3 GPD1 CERS5 LIMA1 COX14 GC12M050105
GH12J050101 Enhancer 0.9 ENCODE dbSUPER 650.7 -2.0 -1954 0 CTCF SAP130 MAX CEBPG RAD21 RFX5 ZNF614 EGR1 HNF4G SMC3 GPD1 SMARCD1
GH12J050106 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 0.4 +6.3 6259 6.6 CLOCK MLX DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 COX14 GC12M050105 CERS5 FAM186B LMBR1L ATF1 LIMA1 ENSG00000272368 GPD1
GH12J050084 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.4 -18.5 -18455 2.2 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 SMARCD1 LMBR1L LOC100422296 CERS5 BCDIN3D ENSG00000257298 ENSG00000257964 DHH PRPH PRPF40B
GH12J050103 Enhancer 0.9 ENCODE dbSUPER 0.7 -2.1 -2076 0.2 CTCF SAP130 MAX CEBPG RAD21 RFX5 ZNF614 EGR1 HNF4G SMC3 GPD1 SMARCD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPD1 gene promoter:
  • Olf-1
  • HSF2
  • AP-2gamma
  • FOXC1
  • Lmo2
  • NF-kappaB1
  • AREB6
  • S8
  • NF-kappaB

Genomic Locations for GPD1 Gene

Genomic Locations for GPD1 Gene
7,502 bases
Plus strand
7,501 bases
Plus strand

Genomic View for GPD1 Gene

Genes around GPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPD1 Gene

Proteins for GPD1 Gene

  • Protein details for GPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic
    Protein Accession:
    Secondary Accessions:
    • F8W1L5
    • Q8N1B0

    Protein attributes for GPD1 Gene

    349 amino acids
    Molecular mass:
    37568 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GPD1 Gene

    Alternative splice isoforms for GPD1 Gene


neXtProt entry for GPD1 Gene

Post-translational modifications for GPD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPD1 Gene

No data available for DME Specific Peptides for GPD1 Gene

Domains & Families for GPD1 Gene

Gene Families for GPD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GPD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
  • Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
genes like me logo Genes that share domains with GPD1: view

Function for GPD1 Gene

Molecular function for GPD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
sn-glycerol 3-phosphate + NAD(+) = glycerone phosphate + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by zinc ions and sulfate.
GENATLAS Biochemistry:
glycerol-3-phosphate dehydrogenase,NAD dependent,cytoplasmic

Enzyme Numbers (IUBMB) for GPD1 Gene

Phenotypes From GWAS Catalog for GPD1 Gene

Gene Ontology (GO) - Molecular Function for GPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004367 glycerol-3-phosphate dehydrogenase [NAD+] activity TAS --
GO:0004368 glycerol-3-phosphate dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GPD1: view
genes like me logo Genes that share phenotypes with GPD1: view

Human Phenotype Ontology for GPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPD1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GPD1 Gene

Localization for GPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPD1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPD1 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
peroxisome 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0009331 glycerol-3-phosphate dehydrogenase complex IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GPD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPD1 Gene

Pathways & Interactions for GPD1 Gene

genes like me logo Genes that share pathways with GPD1: view

Gene Ontology (GO) - Biological Process for GPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006072 glycerol-3-phosphate metabolic process IEA --
GO:0006094 gluconeogenesis IEA --
GO:0006116 NADH oxidation IEA --
GO:0006127 glycerophosphate shuttle IEA --
genes like me logo Genes that share ontologies with GPD1: view

No data available for SIGNOR curated interactions for GPD1 Gene

Drugs & Compounds for GPD1 Gene

(19) Drugs for GPD1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Dihydroxyacetone phosphate Investigational Pharma 0
NAD Pharma Full agonist, Agonist, Activator 0

(25) Additional Compounds for GPD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glycerol 3-phosphate
  • (R)-Glycerol 1-phosphate
  • D-(Glycerol 1-phosphate)
  • D-Glycerol 1-phosphate
  • Glycerol-3-phosphate
  • Glycerophosphoric acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with GPD1: view

Transcripts for GPD1 Gene

mRNA/cDNA for GPD1 Gene

Unigene Clusters for GPD1 Gene

Glycerol-3-phosphate dehydrogenase 1 (soluble):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPD1

Alternative Splicing Database (ASD) splice patterns (SP) for GPD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - -
SP5: - - -

Relevant External Links for GPD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPD1 Gene

mRNA differential expression in normal tissues according to GTEx for GPD1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x12.5), Adipose - Visceral (Omentum) (x10.5), Muscle - Skeletal (x7.0), and Breast - Mammary Tissue (x6.1).

Protein differential expression in normal tissues from HIPED for GPD1 Gene

This gene is overexpressed in Nasopharynx (41.8) and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPD1 Gene:


SOURCE GeneReport for Unigene cluster for GPD1 Gene:


Evidence on tissue expression from TISSUES for GPD1 Gene

  • Liver(4.5)
  • Nervous system(4.3)
  • Pancreas(4.2)
  • Muscle(2.8)
  • Kidney(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPD1 Gene

Germ Layers:
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
Head and neck:
  • ear
  • heart
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • blood vessel
genes like me logo Genes that share expression patterns with GPD1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GPD1 Gene

Orthologs for GPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GPD1 34 33
  • 99.71 (n)
(Bos Taurus)
Mammalia GPD1 34 33
  • 91.6 (n)
(Canis familiaris)
Mammalia GPD1 34 33
  • 90.07 (n)
(Mus musculus)
Mammalia Gpd1 16 34 33
  • 89.59 (n)
(Rattus norvegicus)
Mammalia Gpd1 33
  • 89.3 (n)
(Ornithorhynchus anatinus)
Mammalia GPD1 34
  • 82 (a)
(Gallus gallus)
Aves GPD1 34
  • 77 (a)
LOC426881 33
  • 75.26 (n)
(Anolis carolinensis)
Reptilia GPD1 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gpd1 33
  • 74.4 (n)
Str.11109 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2478 33
(Danio rerio)
Actinopterygii gpd1a 34 33
  • 71.69 (n)
gpd1b 34
  • 71 (a)
wufc30a07 33
fruit fly
(Drosophila melanogaster)
Insecta Gpdh 34 35 33
  • 67.91 (n)
CG3215 34 35
  • 41 (a)
CG43343 34
  • 11 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007593 33
  • 66.57 (n)
(Caenorhabditis elegans)
Secernentea gpdh-2 34 33
  • 59.58 (n)
F47G4.3 35
  • 50 (a)
gpdh-1 34
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR311C 33
  • 56.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04004g 33
  • 54.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPD1 36 34 33
  • 53.47 (n)
GPD2 34
  • 35 (a)
(Oryza sativa)
Liliopsida Os.24891 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpd1 33
  • 57.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1608 34
  • 57 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00742 33
  • 55.45 (n)
Species where no ortholog for GPD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPD1 Gene

Gene Tree for GPD1 (if available)
Gene Tree for GPD1 (if available)
Evolutionary constrained regions (ECRs) for GPD1: view image

Paralogs for GPD1 Gene

Paralogs for GPD1 Gene

(1) SIMAP similar genes for GPD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GPD1: view

Variants for GPD1 Gene

Sequence variations from dbSNP and Humsavar for GPD1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs199673455 pathogenic, Hypertriglyceridemia, transient infantile, Hypertriglyceridemia, transient infantile (HTGTI) [MIM:614480] 50,107,640(+) G/A/C coding_sequence_variant, missense_variant
rs200327418 pathogenic, Hypertriglyceridemia, transient infantile 50,106,287(+) G/C splice_acceptor_variant
rs1001021106 -- 50,111,290(+) A/G 3_prime_UTR_variant
rs1001091099 -- 50,110,927(+) G/A 3_prime_UTR_variant
rs1001479399 -- 50,104,044(+) C/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for GPD1 Gene

Variant ID Type Subtype PubMed ID
nsv558840 CNV loss 21841781

Variation tolerance for GPD1 Gene

Residual Variation Intolerance Score: 75.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPD1 Gene

Disorders for GPD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GPD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypertriglyceridemia, transient infantile
  • htgti
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
body mass index quantitative trait locus 11
  • bmiq11
- elite association - COSMIC cancer census association via MalaCards
Search GPD1 in MalaCards View complete list of genes associated with diseases


  • Hypertriglyceridemia, transient infantile (HTGTI) [MIM:614480]: An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. {ECO:0000269 PubMed:22226083, ECO:0000269 PubMed:24549054}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GPD1

genes like me logo Genes that share disorders with GPD1: view

No data available for Genatlas for GPD1 Gene

Publications for GPD1 Gene

  1. Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1). (PMID: 16460752) Ou X … Rao Z (Journal of molecular biology 2006) 3 4 22 58
  2. Sequence conservation and structural organization of the glycerol-3-phosphate dehydrogenase promoter in mice and humans. (PMID: 2398890) Gwynn B … Birkenmeier EH (Molecular and cellular biology 1990) 3 4 22 58
  3. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. (PMID: 24549054) Joshi M … Agrawal PB (European journal of human genetics : EJHG 2014) 3 4 58
  4. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. (PMID: 22226083) Basel-Vanagaite L … Shamir R (American journal of human genetics 2012) 3 4 58
  5. The influence of obstructive sleep apnea on the expression of glycerol-3-phosphate dehydrogenase 1 gene. (PMID: 20404019) Guindalini C … Tufik S (Experimental biology and medicine (Maywood, N.J.) 2010) 3 22 58

Products for GPD1 Gene

Sources for GPD1 Gene

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