HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GPD1
glycerol-3-phosphate dehydrogenase 1
Chromosome 12 Β· 12q13.12
NCBI Gene: 2819Ensembl: ENSG00000167588.14HGNC: HGNC:4455UniProt: A0A024R138
45PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular exosomeglycerol-3-phosphate metabolic processglycerol-3-phosphate dehydrogenase [NAD(P)+] activitytransient infantile hypertriglyceridemia and hepatosteatosisneurodegenerative diseasegenetic disorderbreast cancer
✦AI Summary

GPD1 (glycerol-3-phosphate dehydrogenase 1) is a cytosolic NAD+-linked enzyme that catalyzes the conversion of dihydroxyacetone phosphate to glycerol-3-phosphate, serving as a critical component of the glycerol-3-phosphate shuttle system 1. Together with mitochondrial GPD2, GPD1 functions as an NADH shuttle for mitochondrial bioenergetics and acts as an important bridge between glucose and lipid metabolism 1. The enzyme plays a key role in managing cellular redox balance by consuming NADH and attenuating reductive stress, particularly under hypoxic conditions 2. GPD1 forms complexes with other metabolic enzymes including aldolase B and GPD1L to facilitate glycerol biosynthesis and excretion 2. Clinically, GPD1 has emerged as a significant therapeutic target across multiple diseases. In bladder cancer, GPD1 acts as a tumor suppressor by promoting apoptosis through the lysoPC-PAFR-TRPV2 axis, with pharmacological activation showing therapeutic potential 3. Conversely, in castration-resistant prostate cancer, GPD1 promotes tumor progression through cell cycle regulation and sphingosine 1-phosphate metabolism 4. GPD1 also contributes to ferroptosis resistance in gastric cancer by facilitating lipid droplet accumulation 5. Additionally, GPD1 serves as a metformin target associated with healthy aging biomarkers 6.

Sources cited
1
GPD1 is a cytosolic NAD+-linked enzyme that works with GPD2 as an NADH shuttle and bridge between glucose and lipid metabolism
PMID: 38689091
2
GPD1 forms complexes with aldolase B and GPD1L for glycerol biosynthesis and helps manage cellular redox balance by consuming NADH
PMID: 39747579
3
GPD1 acts as a tumor suppressor in bladder cancer by promoting apoptosis via the lysoPC-PAFR-TRPV2 axis
PMID: 35836291
4
GPD1 promotes castration-resistant prostate cancer progression through cell cycle regulation and sphingosine 1-phosphate metabolism
PMID: 39413958
5
GPD1 contributes to ferroptosis resistance in gastric cancer by facilitating lipid droplet accumulation
PMID: 40075460
6
GPD1 serves as a metformin target associated with healthy aging biomarkers including phenotypic age
PMID: 37421961
Disease Associationsβ“˜21
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.38Weak
breast cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
glycogen storage disease due to lactate dehydrogenase H-subunit deficiencyOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
alcohol sensitivity, acuteOpen Targets
0.05Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.05Suggestive
pseudohypoparathyroidism type 2Open Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
COVID-19Open Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
acatalasiaOpen Targets
0.05Suggestive
ulna metaphyseal dysplasia syndromeOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
Hypertriglyceridemia, transient infantileUniProt
Pathogenic Variants20
NM_005276.4(GPD1):c.42G>A (p.Trp14Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 14
NM_005276.4(GPD1):c.835_846+11delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_005276.4(GPD1):c.91C>T (p.Gln31Ter)Likely pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2025β†’ Residue 31
NM_005276.4(GPD1):c.540_541insTTTG (p.Met181fs)Pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2025β†’ Residue 181
NM_005276.4(GPD1):c.220-1G>ALikely pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2025
NM_005276.4(GPD1):c.847-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_005276.4(GPD1):c.883C>T (p.Gln295Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 295
NM_005276.4(GPD1):c.686G>A (p.Arg229Gln)Likely pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2023β†’ Residue 229
NM_005276.4(GPD1):c.219+1G>APathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2022
NM_005276.4(GPD1):c.905del (p.Thr302fs)Likely pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2022β†’ Residue 302
NM_005276.4(GPD1):c.953+1G>ALikely pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜…β˜†β˜†β˜†2019
NM_005276.4(GPD1):c.544C>T (p.Gln182Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 182
NM_005276.4(GPD1):c.866_867del (p.Lys289fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2016β†’ Residue 289
NM_005276.4(GPD1):c.751dup (p.Thr251fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 251
NM_005276.4(GPD1):c.806G>A (p.Arg269Gln)Pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜†β˜†β˜†β˜†2024β†’ Residue 269
NM_005276.4(GPD1):c.640T>C (p.Cys214Arg)Pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜†β˜†β˜†β˜†2024β†’ Residue 214
NM_005276.4(GPD1):c.116G>A (p.Trp39Ter)Pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜†β˜†β˜†β˜†2024β†’ Residue 39
NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)Pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜†β˜†β˜†β˜†2014β†’ Residue 229
NM_005276.4(GPD1):c.361-1G>CPathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜†β˜†β˜†β˜†2012
NM_005276.4(GPD1):c.219+1_219+3delLikely pathogenic
Transient infantile hypertriglyceridemia and hepatosteatosis
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
GPAMProtein interaction100%GPAT2Protein interaction98%PLPP2Protein interaction98%PLPP3Protein interaction97%LPIN3Protein interaction96%LPIN1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Heart
8%
Brain
6%
Lung
5%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GPD1GPAMGPAT2PLPP2PLPP3LPIN3LPIN1
PROTEIN STRUCTURE
Preparing viewer…
PDB6E8Y Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.56 [0.36–0.89]
RankingsWhere GPD1 stands among ~20K protein-coding genes
  • #9,455of 20,598
    Most Researched45
  • #2,202of 5,498
    Most Pathogenic Variants20
  • #7,994of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedGPD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Exploring antidiabetic drug targets as potential disease-modifying agents in osteoarthritis.
PMID: 39153411
EBioMedicine Β· 2024
1.00
2
Allosteric activation of the metabolic enzyme GPD1 inhibits bladder cancer growth via the lysoPC-PAFR-TRPV2 axis.
PMID: 35836291
J Hematol Oncol Β· 2022
0.90
3
Glucocorticoids, genes and brain function.
PMID: 29180230
Prog Neuropsychopharmacol Biol Psychiatry Β· 2018
0.80
4
Effects of putative metformin targets on phenotypic age and leukocyte telomere length: a mendelian randomisation study using data from the UK Biobank.
PMID: 37421961
Lancet Healthy Longev Β· 2023
0.70
5
AMPK-regulated glycerol excretion maintains metabolic crosstalk between reductive and energetic stress.
PMID: 39747579
Nat Cell Biol Β· 2025
0.60