Gene Details: GNPDA1
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General Information
Gene Name: GNPDA1 (Glucosamine-6-phosphate isomerase 1)
Synonym: GNPI
Short Names:
Alternative Names: Glucosamine-6-phosphate deaminase 1;Oscillin;
Notes:
- Glucosamine 6 phosphate deaminase removes the amine from glucosamine and produces fructose 6 phosphate in the hexosamine biosynthesis pathway.
- Allosterically activated by the accumulation of GlcNAc-6-phosphate created by GNPNAT1(GNA1).
Description from Dr.Glyco-GPT:
Write a 100-350 word essay about the enzyme human GNPDA1. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings ### Function Human GNPDA1, or glucosamine-6-phosphate deaminase 1, is an enzyme that plays a significant role in amino sugar metabolism. GNPDA1 catalyzes the deamination of glucosamine-6-phosphate (GlcN-6-P) to produce fructose-6-phosphate (Fru-6-P) and ammonia. This reaction is crucial for maintaining the balance between the hexosamine biosynthesis pathway and glycolysis, linking amino sugar metabolism to energy production. ### Reaction Pathways GNPDA1 functions within the hexosamine biosynthesis and glycolysis pathways. By converting GlcN-6-P into Fru-6-P, GNPDA1 helps regulate the flow of intermediates between these pathways. Fru-6-P, a product of the GNPDA1 reaction, can enter glycolysis, contributing to cellular energy production. Additionally, the enzyme’s activity helps maintain appropriate levels of GlcN-6-P, which is a precursor for the synthesis of UDP-GlcNAc, a key substrate for glycosylation processes. Through these pathways, GNPDA1 plays a critical role in cellular metabolism, glycosylation, and the regulation of glucose-derived metabolites. ### Location GNPDA1 is predominantly located in the cytoplasm, where it interacts with its substrates and participates in metabolic processes. The cytoplasmic localization allows GNPDA1 to efficiently catalyze the conversion of GlcN-6-P to Fru-6-P, linking amino sugar metabolism to other cytoplasmic metabolic pathways, such as glycolysis. This strategic localization ensures that the enzyme can readily access its substrates and contribute to the cell’s metabolic needs. ### Diseases While specific diseases directly linked to mutations in the GNPDA1 gene are not well-documented, the enzyme's role in critical metabolic pathways suggests that its dysfunction could contribute to metabolic disorders. Disruptions in hexosamine biosynthesis or glycolysis, where GNPDA1 is involved, are associated with conditions such as diabetes and cancer. For example, altered levels of hexosamine pathway intermediates can affect insulin resistance and glucose metabolism, leading to metabolic syndrome or type 2 diabetes. Additionally, since glycosylation is crucial for protein function, GNPDA1’s role in providing precursors for this process implies that its dysfunction could impact cellular signaling, protein folding, and immune responses, potentially contributing to a range of metabolic and systemic diseases.
Catalytic Activity

Reaction and Disease Links
EC # (IUBMB):
3.5.99.6
Brenda:
3.5.99.6
OMIM:
601798
KEGG: 10007
Rhea:
12172
Reactome :
R-HSA-70171
Transcript levels (Cell lines and Single cell data) URL
CRISPR-knockout

CRISPR-activation

CRISPR-inactivation

Top 10 TFs
TF | Score |
---|---|
UBE2I | 0.850982 |
TCF25 | 0.841460 |
XRCC5 | 0.837681 |
HNRNPK | 0.832796 |
SON | 0.823662 |
PCBP1 | 0.819286 |
YY1 | 0.818683 |
SSU72 | 0.818536 |
PCBP2 | 0.816970 |
RBM39 | 0.816088 |
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