GMPS Gene - Guanine Monophosphate Synthase
A key enzyme in de novo purine biosynthesis, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | GMPS |
|---|---|
| Full Name | Guanine Monophosphate Synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 8833 ncbi.nlm.nih.gov/gene/8833 |
| Ensembl ID | ENSG00000163655 |
| UniProt ID | P49915 |
| OMIM ID | 600358 |
| HGNC ID | 4378 |
| Aliases | GATD8, GMPS1 |
Description
The GMPS gene encodes guanine monophosphate synthase, an enzyme that catalyzes the conversion of xanthosine monophosphate (XMP) to guanosine monophosphate (GMP) in the de novo purine biosynthesis pathway. This enzyme is essential for DNA and RNA synthesis, and its dysregulation is associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or amplification of GMPS supports increased purine synthesis, promoting cell proliferation. | COSMIC, ClinVar |
| Developmental delay / Intellectual disability | Loss-of-function mutations impair GMP synthesis, affecting nucleotide pools and cellular growth. | ClinVar, OMIM |
| Microcephaly | Biallelic GMPS mutations disrupt brain development due to nucleotide deficiency. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Lymph node | 25.1 | High |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Medium |
| Muscle | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.6 | Cervical cancer cell line |
| K562 | 38.2 | Leukemia cell line |
| HEK293 | 22.5 | Embryonic kidney cell line |
| HepG2 | 18.9 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | Impaired enzyme activity |
| c.1135G>A (p.Gly379Arg) | Missense | <0.01% | Reduced catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg248Trp, p.Gly379Arg) reduce or abolish enzyme activity, leading to nucleotide deficiency.
Gain of Function (GOF)
Not reported in GMPS.
Dominant Negative (DN)
Not reported in GMPS.
View complete mutation data：
Gene Ontology (GO)
| • GMP synthase (glutamine-hydrolyzing) activity (GO:0003922) | • GMP biosynthetic process (GO:0006177) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• De novo purine biosynthesis (Reactome: R-HSA-73817)
Protein Summary
GMPS is a 693-amino acid protein that functions as a homotetramer. It catalyzes the amination of XMP to GMP using glutamine as a nitrogen source, requiring ATP. The enzyme is critical for maintaining guanine nucleotide pools, and its activity is regulated by substrate availability and post-translational modifications.
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