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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GDPGP1
GDP-D-glucose phosphorylase 1
Chromosome 15 Β· 15q26.1
NCBI Gene: 390637Ensembl: ENSG00000183208.14HGNC: HGNC:34360UniProt: Q6ZNW5
8PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GDP-D-glucose phosphorylase activityglucose metabolic processresponse to stresscytoplasmneurodegenerative diseaseepidermodysplasia verruciformispolyp of colonulcerative colitis
✦AI Summary

GDPGP1 (GDP-D-glucose phosphorylase 1) is a metabolic enzyme that catalyzes the phosphorolysis of GDP-D-glucose to GDP and D-glucose 1-phosphate, thereby regulating cellular GDP-D-glucose levels 1. The enzyme functions as a quality control factor in nucleoside diphosphate sugar metabolism, preventing accumulation of GDP-D-glucose that could lead to misincorporation of glucosyl residues into glycoconjugates 1. GDPGP1 is highly expressed in nervous and male reproductive tissues 1. Beyond metabolic regulation, GDPGP1 plays a critical role in neuronal stress resistance through glycogen metabolism. Stress conditions down-regulate GDPGP1 expression, and this down-regulation represents a maladaptive response; GDPGP1 knockdown in mouse neurons causes widespread cell death, while loss-of-function in C. elegans increases neurodegeneration and reduces stress survival 2. Conversely, GDPGP1 overexpression enhances neuronal survival under hypoxia and protects against neurodegeneration in tauopathy models by maintaining glycogen levels and glucose homeostasis 2. Clinically, GDPGP1 expression is associated with unfavorable outcomes in advanced epithelial ovarian cancer, identifying it as a prognostic biomarker for disease-specific survival 3.

Sources cited
1
GDPGP1 catalyzes GDP-D-glucose phosphorolysis and regulates GDP-D-glucose levels; highest expression in nervous tissue
PMID: 21507950
2
GDPGP1 regulates neuronal glycogen and stress resistance; knockdown causes neuronal death; overexpression protects against neurodegeneration
PMID: 31968056
3
GDPGP1 is associated with unfavorable clinical outcomes in advanced epithelial ovarian cancer
PMID: 41131133
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜18
neurodegenerative diseaseOpen Targets
0.54Moderate
epidermodysplasia verruciformisOpen Targets
0.31Weak
polyp of colonOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
seborrheic dermatitisOpen Targets
0.02Suggestive
seborrheic keratosisOpen Targets
0.02Suggestive
erythematosquamous dermatosisOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
COVID-19Open Targets
0.02Suggestive
severe acute respiratory syndromeOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
tauopathyOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MIOXProtein interaction72%HECTD4Shared pathway33%DCXRShared pathway25%ADPGKShared pathway25%SORDShared pathway25%SLC37A4Shared pathway20%
Tissue Expression6 tissues
Liver
100%
Heart
68%
Brain
41%
Ovary
38%
Lung
35%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
GDPGP1MIOXHECTD4DCXRADPGKSORDSLC37A4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q6ZNW5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.61–1.27]
RankingsWhere GDPGP1 stands among ~20K protein-coding genes
  • #17,605of 20,598
    Most Researched8
  • #13,403of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedGDPGP1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Diagnostic and prognostic biomarkers associated with histotype in advanced epithelial ovarian cancer.
PMID: 41131133
Sci Rep Β· 2025
1.00
2
The stress-responsive gene GDPGP1/mcp-1 regulates neuronal glycogen metabolism and survival.
PMID: 31968056
J Cell Biol Β· 2020
0.67
3
A novel GDP-D-glucose phosphorylase involved in quality control of the nucleoside diphosphate sugar pool in Caenorhabditis elegans and mammals.
PMID: 21507950
J Biol Chem Β· 2011
0.33