FPGT (Fucose-1-Phosphate Guanylyltransferase)
Gene encoding an enzyme involved in fucose metabolism and GDP-L-fucose biosynthesis
Gene Information Card
| Symbol | FPGT |
|---|---|
| Full Name | Fucose-1-phosphate guanylyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 8790 ncbi.nlm.nih.gov/gene/8790 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | O14772 |
| OMIM ID | 605817 |
| HGNC ID | 3825 |
| Aliases | GFPP, FPGT-TNNI3K readthrough |
Description
FPGT encodes fucose-1-phosphate guanylyltransferase, an enzyme that catalyzes the conversion of fucose-1-phosphate and GTP to GDP-L-fucose and diphosphate. GDP-L-fucose is a key substrate for fucosyltransferases in the synthesis of fucosylated glycoproteins and glycolipids, which are critical for cell adhesion, immune response, and development. Mutations in FPGT are associated with congenital disorders of glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIt (CDG-IIt) | Deficiency in GDP-L-fucose biosynthesis due to FPGT mutations leads to impaired fucosylation of glycoproteins | ClinVar, OMIM #605817 |
| Fucosylation deficiency | Loss-of-function variants reduce enzyme activity, disrupting fucose metabolism | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
| Lung | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney cells |
| HepG2 | 9.3 | Hepatocellular carcinoma cells |
| K562 | 4.5 | Chronic myelogenous leukemia cells |
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.374C>T (p.Thr125Met) | Missense | Rare | Reduced enzyme activity in CDG |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Impaired GDP-L-fucose synthesis |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish fucose-1-phosphate guanylyltransferase activity, leading to GDP-L-fucose deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • fucose-1-phosphate guanylyltransferase activity (GO:0006012) |
| • fucose metabolic process (GO:0006004) | • Golgi apparatus (GO:0005794) |
| • cytosol (GO:0005829) |
Pathways
• GDP-L-fucose biosynthesis I (from fucose-1-phosphate)
• Fucose metabolism
• Glycosylation reactions
Protein Summary
Fucose-1-phosphate guanylyltransferase is a 591-amino acid protein localized to the cytosol and Golgi. It catalyzes the reversible conversion of fucose-1-phosphate and GTP to GDP-L-fucose and diphosphate. GDP-L-fucose is the essential donor substrate for fucosyltransferases that modify glycoproteins and glycolipids. The enzyme is highly expressed in liver and kidney, and its deficiency leads to a congenital disorder of glycosylation characterized by impaired fucosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FPGT Knockout HEK293 Cell Line | EDJ-KQ6363 | Human | 8790 | Details Get a Quote |
| FPGT Knockout A-549 Cell Line | EDJ-KQ30329 | Human | 8790 | Details Get a Quote |
| FPGT Knockout HCT 116 Cell Line | EDJ-KQ30330 | Human | 8790 | Details Get a Quote |
| FPGT Knockout HeLa Cell Line | EDJ-KQ30331 | Human | 8790 | Details Get a Quote |
| FPGT-TNNI3K Knockout HEK293 Cell Line | EDJ-KQ52479 | Human | 100526835 | Details Get a Quote |
| FPGT-TNNI3K Knockout HeLa Cell Line | EDJ-KQ60942 | Human | 100526835 | Details Get a Quote |
| FPGT-TNNI3K Knockout A-549 Cell Line | EDJ-KQ69417 | Human | 100526835 | Details Get a Quote |
| FPGT-TNNI3K Knockout HCT 116 Cell Line | EDJ-KQ77768 | Human | 100526835 | Details Get a Quote |
