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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GNPDA1
glucosamine-6-phosphate deaminase 1
Chromosome 5 · 5q31.3
NCBI Gene: 10007Ensembl: ENSG00000113552.17HGNC: HGNC:4417UniProt: P46926
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glucosamine-6-phosphate deaminase activityprotein bindingglucosamine catabolic processUDP-N-acetylglucosamine biosynthetic processasthmarespiratory system diseaseallergic rhinitisneurodegenerative disease
✦AI Summary

GNPDA1 (glucosamine-6-phosphate deaminase 1) catalyzes the reversible conversion of glucosamine-6-phosphate into fructose-6-phosphate and ammonia, a critical regulatory step in hexosamine biosynthesis that controls UDP-GlcNAc production 1. This enzyme functions bidirectionally: under standard conditions it primarily diverts GlcN6P back to glycolysis, but when hexosamine biosynthesis is blocked, it reverses to maintain UDP-GlcNAc levels for glycoprotein and hyaluronan synthesis 1. GNPDA1 also plays roles in ammonium metabolism, particularly in cancer cells where altered hexosamine pathway flux affects protein N-glycosylation and O-GlcNAcylation 2. Clinically, GNPDA1 expression correlates with multiple disease states: it is upregulated in colorectal cancer cells treated with anti-cancer agents 3, associated with insulin resistance in obese children 4, and significantly elevated in head and neck squamous cell carcinoma where high expression predicts poor prognosis and correlates with immune evasion mechanisms 5. GNPDA1 also serves as a prognostic methylation marker in epithelial ovarian cancer 6. Additionally, upregulation of GNPDA1 is associated with phlegm-dampness constitution in traditional Chinese medicine, conferring increased susceptibility to metabolic diseases including obesity, diabetes, and metabolic syndrome 7.

Sources cited
1
GNPDA1 catalyzes conversion of GlcN6P to Fru6P and fine-tunes UDP-GlcNAc levels and hyaluronan synthesis; reverses direction when hexosamine biosynthesis is blocked
PMID: 26887390
2
GNPDA1 involved in hexosamine biosynthesis and ammonia metabolism with implications in cancer and metabolic diseases
PMID: 39596123
3
GNPDA1 is upregulated in CAPE-treated colorectal cancer cells and identified as potential anti-cancer target
PMID: 25206290
4
GNPDA1 SNP rs2258617 associated with insulin resistance in obese children
PMID: 29188820
5
GNPDA1 overexpression in head and neck squamous cell carcinoma correlates with tumor malignancy, poor prognosis, and immune evasion
PMID: 40419932
6
GNPDA1 is part of methylation signature for prognostic prediction in epithelial ovarian cancer
PMID: 35563509
7
GNPDA1 is upregulated in phlegm-dampness constitution and associated with susceptibility to obesity, diabetes, and metabolic syndrome
PMID: 23548117
Disease Associationsⓘ20
asthmaOpen Targets
0.47Moderate
respiratory system diseaseOpen Targets
0.40Weak
allergic rhinitisOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.35Weak
deep vein thrombosisOpen Targets
0.32Weak
childhood onset asthmaOpen Targets
0.31Weak
allergic diseaseOpen Targets
0.31Weak
Abnormal thrombosisOpen Targets
0.31Weak
DNA methylationOpen Targets
0.27Weak
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
Eczematoid dermatitisOpen Targets
0.04Suggestive
osteoarthritis, kneeOpen Targets
0.03Suggestive
osteoarthritis, handOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GFPT1Protein interaction97%HK1Protein interaction97%HK2Protein interaction97%HK3Protein interaction97%GFPT2Protein interaction97%GPIProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Ovary
83%
Heart
66%
Lung
57%
Liver
41%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
GNPDA1GFPT1HK1HK2HK3GFPT2GPI
PROTEIN STRUCTURE
Preparing viewer…
PDB1NE7 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.49–1.17]
RankingsWhere GNPDA1 stands among ~20K protein-coding genes
  • #8,679of 20,598
    Most Researched51
  • #12,233of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedGNPDA1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
The Possible Roles of Glucosamine-6-Phosphate Deaminases in Ammonium Metabolism in Cancer.
PMID: 39596123
Int J Mol Sci · 2024
1.00
2
Identification of differential proteins in colorectal cancer cells treated with caffeic acid phenethyl ester.
PMID: 25206290
World J Gastroenterol · 2014
0.86
3
Phlegm-dampness constitution: genomics, susceptibility, adjustment and treatment with traditional Chinese medicine.
PMID: 23548117
Am J Chin Med · 2013
0.71
4
Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.
PMID: 26887390
Glycobiology · 2016
0.57
5
Epigenomic Profiling of Epithelial Ovarian Cancer Stem-Cell Differentiation Reveals GPD1 Associated Immune Suppressive Microenvironment and Poor Prognosis.
PMID: 35563509
Int J Mol Sci · 2022
0.43