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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FPGT
fucose-1-phosphate guanylyltransferase
Chromosome 1 · 1p31.1
NCBI Gene: 8790Ensembl: ENSG00000254685.8HGNC: HGNC:3825UniProt: A0A0S2Z4P4
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
fucose-1-phosphate guanylyltransferase activityGDP-L-fucose salvagecytosolfucose metabolic processAbnormality of the skeletal systemresponse to paracetamolHydrocephalusosteoarthritis, hand
✦AI Summary

FPGT (fucose-1-phosphate guanylyltransferase) catalyzes the conversion of GTP and L-fucose-1-phosphate to GDP-L-fucose 1, functioning as a salvage pathway enzyme that reutilizes L-fucose from glycoprotein and glycolipid turnover 1. This salvage pathway complements the de novo synthesis of GDP-L-fucose, which is essential for fucosylation of mammalian glycoproteins and glycolipids 2. Disease relevance: FPGT variants have been identified through genome-wide association studies as potentially influencing susceptibility to sickle cell disease nephropathy (SCDN), with FPGT-TNNI3K/TNNI3K loci showing significant association with decreased estimated glomerular filtration rate in adult SCD patients 345. Additionally, FPGT variants have been associated with chr1 pain and major depressive disorder in pleiotropy studies 6, and candidate gene analysis identified Fpgt as a likely contributor to viral myocarditis susceptibility 7. Clinical significance: These associations suggest FPGT may play a role in complex disease pathophysiology, though functional mechanisms remain unclear. The consistent identification of FPGT across multiple genome-wide association studies indicates potential value for genetic risk stratification, particularly in SCD populations at risk for renal complications.

Sources cited
1
FPGT catalyzes formation of GDP-L-fucose from GTP and L-fucose-1-phosphate and functions as a salvage pathway for L-fucose reutilization
PMID: 9804772
2
FPGT (GDP-L-fucose pyrophosphorylase) catalyzes conversion of L-fucose-1-phosphate to GDP-L-fucose in salvage metabolism pathway
PMID: 16907860
3
FPGT-TNNI3K/TNNI3K loci show genome-wide significant association with eGFR in sickle cell disease nephropathy
PMID: 36399516
4
FPGT-TNNI3K/TNNI3K identified as suggestive variant in genome-wide association study of sickle cell nephropathy
PMID: 40719369
5
FPGT-TNNI3K/TNNI3K locus linked with eGFR in sickle cell nephropathy via genome-wide association approach
PMID: 38791464
6
FPGT located in gene-dense region on chromosome 1 with SNPs associated with major depressive disorder
PMID: 31748543
7
Fpgt identified as candidate gene for viral myocarditis susceptibility locus through quantitative trait locus and pathway analysis
PMID: 21525387
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.28Weak
response to paracetamolOpen Targets
0.22Weak
HydrocephalusOpen Targets
0.21Weak
osteoarthritis, handOpen Targets
0.21Weak
food allergyOpen Targets
0.21Weak
type 1 diabetes mellitusOpen Targets
0.20Weak
pulmonary vascular congestionOpen Targets
0.18Weak
Abnormality of the gastrointestinal tractOpen Targets
0.17Weak
dyshidrosisOpen Targets
0.17Weak
health study participationOpen Targets
0.13Weak
mathematical abilityOpen Targets
0.12Weak
diabetic neuropathyOpen Targets
0.07Suggestive
sign or symptomOpen Targets
0.05Suggestive
respiratory failureOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.03Suggestive
cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
bacteriemiaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GMDSProtein interaction95%GFUSProtein interaction95%FCSKProtein interaction95%TNNI3KProtein interaction80%LRRIQ3Protein interaction74%GUCY1B1Co-mentioned in literature22%
Tissue Expression6 tissues
Heart
100%
Liver
77%
Ovary
69%
Lung
47%
Brain
38%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
FPGTGMDSGFUSFCSKTNNI3KLRRIQ3GUCY1B1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O14772
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.62–1.12]
RankingsWhere FPGT stands among ~20K protein-coding genes
  • #16,452of 20,598
    Most Researched12
  • #11,517of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedFPGT
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review.
PMID: 40719369
OMICS · 2025
1.00
2
Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.
PMID: 36399516
Blood Adv · 2023
0.89
3
Expression of genes that control core fucosylation in hepatocellular carcinoma: Systematic review.
PMID: 31249452
World J Gastroenterol · 2019
0.78
4
Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging.
PMID: 38173016
Hereditas · 2024
0.67
5
Differential gene expression of GDP-L-fucose-synthesizing enzymes, GDP-fucose transporter and fucosyltransferase VII.
PMID: 16907860
APMIS · 2006
0.56