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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FPGS
folylpolyglutamate synthase
Chromosome 9 · 9q34.11
NCBI Gene: 2356Ensembl: ENSG00000136877.17HGNC: HGNC:3824UniProt: Q05932
89PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tetrahydrofolylpolyglutamate synthase activitytetrahydrofolylpolyglutamate biosynthetic processmitochondrionmitochondrial matrixdevice complicationjoint diseaseimmunodeficiency 86acute lymphoblastic leukemia
✦AI Summary

FPGS (folylpolyglutamate synthase) is a crucial enzyme in folate metabolism that catalyzes the conversion of folates to polyglutamate derivatives, enabling cellular concentration and intracellular retention of folate cofactors essential for one-carbon transfer reactions in purine, pyrimidine, and amino acid synthesis 1. The enzyme preferentially uses unsubstituted reduced folates as substrates and also metabolizes methotrexate (MTX) to polyglutamates, which is critical for MTX efficacy in cancer treatment 2. FPGS functions in both cytoplasm and mitochondria, playing a central role in antifolate drug retention and activity. In cancer, particularly acute lymphoblastic leukemia (ALL), FPGS dysfunction represents a major resistance mechanism. Relapsed ALL frequently exhibits decreased FPGS network activity, inactivating mutations, focal gene deletions, and increased protein degradation, leading to MTX resistance 23. These alterations are enriched in early relapses and can arise through therapy-induced mutagenesis 3. FPGS inactivation creates a therapeutic vulnerability, as cells become sensitive to non-polyglutamatable antifolates like trimetrexate 2. Additionally, FPGS polymorphisms influence MTX treatment response and toxicity across various conditions, with variants like rs1544105 associated with adverse events in rheumatoid arthritis and increased ALL susceptibility 456. Novel regulatory mechanisms include Smad4/Ets-1 complex binding to exon12, which can suppress FPGS expression in resistant leukemia cells 1.

Sources cited
1
FPGS catalyzes conversion of folates to polyglutamate derivatives and metabolizes methotrexate
PMID: 25229333
2
FPGS functions in cytoplasm and mitochondria, and its inactivation causes MTX resistance but creates vulnerability to trimetrexate
PMID: 39181011
3
FPGS mutations are enriched in relapsed ALL and can arise through therapy-induced mutagenesis
PMID: 31697823
4
FPGS rs1544105 polymorphism is associated with MTX toxicity
PMID: 40050537
5
FPGS rs1544105 variant associated with MTX adverse events in rheumatoid arthritis
PMID: 31611592
6
FPGS polymorphisms including rs1544105 associated with increased ALL susceptibility
PMID: 26107232
7
Smad4/Ets-1 complex binding to exon12 regulates FPGS expression in resistant leukemia cells
PMID: 25229333
Disease Associationsⓘ20
device complicationOpen Targets
0.06Suggestive
joint diseaseOpen Targets
0.06Suggestive
immunodeficiency 86Open Targets
0.05Suggestive
acute lymphoblastic leukemiaOpen Targets
0.04Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
classic Hodgkin lymphomaOpen Targets
0.04Suggestive
Hodgkins lymphomaOpen Targets
0.04Suggestive
macroglobulinemia, Waldenstrom, 1Open Targets
0.04Suggestive
immune deficiency, familial variableOpen Targets
0.04Suggestive
hyper-IgM syndrome type 2Open Targets
0.04Suggestive
hyper-IgM syndrome type 5Open Targets
0.04Suggestive
MHC class II deficiency 5Open Targets
0.04Suggestive
immunodeficiency, common variable, 14Open Targets
0.03Suggestive
BENTA diseaseOpen Targets
0.03Suggestive
leukemiaOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cleft lipOpen Targets
0.02Suggestive
adenocarcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GARTProtein interaction100%MTHFD1Protein interaction100%SHMT1Protein interaction100%SHMT2Protein interaction100%MTHFD1LProtein interaction99%MTRProtein interaction97%
Tissue Expression6 tissues
Ovary
100%
Liver
85%
Lung
60%
Bone Marrow
34%
Heart
32%
Brain
16%
Gene Interaction Network
Click a node to explore
FPGSGARTMTHFD1SHMT1SHMT2MTHFD1LMTR
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q05932
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.75–1.17]
RankingsWhere FPGS stands among ~20K protein-coding genes
  • #5,358of 20,598
    Most Researched89
  • #12,288of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedFPGS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The role of alternative splicing in cancer: From oncogenesis to drug resistance.
PMID: 33070093
Drug Resist Updat · 2020
1.00
2
Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.
PMID: 31697823
Blood · 2020
0.90
3
Influence of FPGS rs1544105 and GGH rs3758149 Gene Polymorphisms on Methotrexate Pharmacogenetics.
PMID: 40050537
Biochem Genet · 2026
0.80
4
Folyl polyglutamate synthethase (FPGS) gene polymorphisms may influence methotrexate adverse events in South Indian Tamil Rheumatoid Arthritis patients.
PMID: 31611592
Pharmacogenomics J · 2020
0.70
5
Mutation Screening and Association Study of the Folylpolyglutamate Synthetase (FPGS) Gene with Susceptibility to Childhood Acute Lymphoblastic Leukemia.
PMID: 26107232
Asian Pac J Cancer Prev · 2015
0.60