GNPDA1 (Glucosamine-6-Phosphate Deaminase 1)
A key enzyme in hexosamine metabolism, implicated in cellular energy sensing and potential roles in cancer and metabolic disorders.
Gene Information Card
| Symbol | GNPDA1 |
|---|---|
| Full Name | Glucosamine-6-Phosphate Deaminase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q21.3 |
| NCBI Gene ID | 10007 ncbi.nlm.nih.gov/gene/10007 |
| Ensembl ID | ENSG00000113552 |
| UniProt ID | P46926 |
| OMIM ID | 602875 |
| HGNC ID | 4419 |
| Aliases | GNPI, OSM, HLN, GlcN6P deaminase 1 |
Description
GNPDA1 encodes glucosamine-6-phosphate deaminase 1, an allosteric enzyme that catalyzes the reversible conversion of glucosamine-6-phosphate to fructose-6-phosphate and ammonia. This reaction is a key branch point in hexosamine biosynthesis, linking glucose and glutamine metabolism. The enzyme is involved in the hexosamine biosynthetic pathway (HBP) and plays a role in cellular energy homeostasis, protein glycosylation, and stress responses. GNPDA1 is widely expressed and has been associated with various cancers and metabolic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered GNPDA1 expression may influence hexosamine flux and O-GlcNAc modification, affecting tumor growth and metastasis. | COSMIC; literature (PMID: 25691885) |
| Colorectal cancer | Upregulation of GNPDA1 observed in tumor tissues; potential role in metabolic reprogramming. | COSMIC; literature (PMID: 29158337) |
| Hepatocellular carcinoma | GNPDA1 overexpression linked to poor prognosis; may promote proliferation via HBP. | COSMIC; literature (PMID: 30348673) |
| Diabetes mellitus type 2 | GNPDA1 variants may affect glucosamine metabolism and insulin sensitivity. | ClinVar; literature (PMID: 20628086) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Heart | 5.2 | Low |
| Skeletal muscle | 4.1 | Low |
| Pancreas | 8.7 | Medium |
| Lung | 7.4 | Medium |
| Colon | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 11.5 | Breast cancer cell line |
| A549 | 9.3 | Lung cancer cell line |
| HEK293 | 8.1 | Embryonic kidney cell line |
| K562 | 6.7 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.482G>A (p.Arg161Gln) | missense | <0.01% | Likely benign; no disease association |
| c.604A>G (p.Ile202Val) | missense | <0.01% | Benign; population variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in GNPDA1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • glucosamine-6-phosphate deaminase activity | • fructose-6-phosphate binding |
| • ammonia ligase activity | • hexosamine biosynthetic process |
| • cellular response to glucose stimulus | • protein homodimerization activity |
Pathways
• Hexosamine biosynthetic pathway (HBP)
• Amino sugar and nucleotide sugar metabolism (KEGG: hsa00520)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Glucosamine-6-phosphate deaminase 1 (GNPDA1) is a 289-amino acid homodimeric enzyme that catalyzes the reversible isomerization/deamination of glucosamine-6-phosphate to fructose-6-phosphate and ammonia. It is a key regulator of the hexosamine biosynthetic pathway, which provides substrates for O-GlcNAc modification and glycosylation. The enzyme is allosterically activated by N-acetylglucosamine-6-phosphate and inhibited by UDP-GlcNAc. GNPDA1 is localized in the cytoplasm and is widely expressed, with highest levels in liver and kidney. Its activity is linked to cellular energy status and stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNPDA1 Knockout HEK293 Cell Line | EDJ-KQ2060 | Human | 10007 | Details Get a Quote |
| GNPDA1 Knockout A-549 Cell Line | EDJ-KQ22126 | Human | 10007 | Details Get a Quote |
| GNPDA1 Knockout HCT 116 Cell Line | EDJ-KQ22127 | Human | 10007 | Details Get a Quote |
| GNPDA1 Knockout HeLa Cell Line | EDJ-KQ22128 | Human | 10007 | Details Get a Quote |
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