GMPR: Guanosine Monophosphate Reductase
Key enzyme in guanine nucleotide metabolism and purine salvage pathway
Gene Information Card
| Symbol | GMPR |
|---|---|
| Full Name | guanosine monophosphate reductase |
| Gene Type | protein-coding |
| Chromosomal Location | 6p23 |
| NCBI Gene ID | 2766 ncbi.nlm.nih.gov/gene/2766 |
| Ensembl ID | ENSG00000137198 |
| UniProt ID | P36959 |
| OMIM ID | 139265 |
| HGNC ID | 4376 |
| Aliases | GMPR1, GMPR 1, GMP reductase 1 |
Description
The GMPR gene encodes guanosine monophosphate reductase (EC 1.7.1.7), an enzyme that catalyzes the irreversible NADPH-dependent deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). This reaction is a key step in the purine salvage pathway, regulating the intracellular balance of guanine and adenine nucleotides. GMPR is expressed in various tissues and plays a role in nucleotide metabolism and cellular energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gout | Altered purine metabolism due to GMPR deficiency may lead to uric acid accumulation | PMID: 10767347 |
| Purine nucleoside phosphorylase deficiency | Indirect involvement via nucleotide pool imbalance | PMID: 2191792 |
| Cancer (various) | Dysregulation of GMPR expression affects nucleotide pools and cell proliferation | PMID: 23455423 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 5.1 | Low |
| Brain | 3.2 | Low |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.4 | Moderate expression |
| HepG2 | 11.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135His) | Missense | Rare | Reduced enzyme activity |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
| c.682C>T (p.Arg228Trp) | Missense | Rare | Decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg135His) reduce or abolish GMP reductase activity, impairing purine salvage.
Gain of Function (GOF)
No gain-of-function mutations reported in GMPR.
Dominant Negative (DN)
No dominant-negative mutations described for GMPR.
View complete mutation data：
Gene Ontology (GO)
| • GMP reductase activity (GO:0003920) | • purine nucleotide biosynthetic process (GO:0006164) |
| • cytosol (GO:0005829) | • cytoplasm (GO:0005737) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
GMP reductase is a homotetrameric enzyme that converts GMP to IMP using NADPH as a cofactor. It is involved in the regulation of guanine nucleotide pools and is essential for maintaining nucleotide balance in cells. The protein is localized in the cytoplasm and is expressed in multiple tissues, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GMPR Knockout HEK293 Cell Line | EDJ-KQ1886 | Human | 2766 | Details Get a Quote |
| GMPR2 Knockout HEK293 Cell Line | EDJ-KQ11018 | Human | 51292 | Details Get a Quote |
| GMPR Knockout A-549 Cell Line | EDJ-KQ21782 | Human | 2766 | Details Get a Quote |
| GMPR Knockout HCT 116 Cell Line | EDJ-KQ21783 | Human | 2766 | Details Get a Quote |
| GMPR2 Knockout A-549 Cell Line | EDJ-KQ38903 | Human | 51292 | Details Get a Quote |
| GMPR2 Knockout HCT 116 Cell Line | EDJ-KQ38904 | Human | 51292 | Details Get a Quote |
| GMPR2 Knockout HeLa Cell Line | EDJ-KQ38905 | Human | 51292 | Details Get a Quote |
| GMPR Knockout HeLa Cell Line | EDJ-KQ53364 | Human | 2766 | Details Get a Quote |
