FUT8 (Fucosyltransferase 8)
Core fucosylation enzyme involved in cancer, immunity, and development
Gene Information Card
| Symbol | FUT8 |
|---|---|
| Full Name | Fucosyltransferase 8 (alpha-(1,6)-fucosyltransferase) |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 2530 ncbi.nlm.nih.gov/gene/2530 |
| Ensembl ID | ENSG00000123570 |
| UniProt ID | Q9BYC5 |
| OMIM ID | 602589 |
| HGNC ID | 4019 |
| Aliases | FUT8, alpha-(1,6)-fucosyltransferase, core fucosyltransferase |
Description
FUT8 encodes alpha-(1,6)-fucosyltransferase, an enzyme that catalyzes the transfer of fucose from GDP-fucose to the innermost N-acetylglucosamine residue of N-glycans, forming core fucosylation. This modification is critical for the function of many glycoproteins, including growth factor receptors, adhesion molecules, and immunoglobulins. FUT8 is widely expressed and its dysregulation is implicated in cancer, inflammation, and congenital disorders of glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIn (CDG-IIn) | Loss-of-function mutations in FUT8 impair core fucosylation of N-glycans, leading to multisystem developmental abnormalities. | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression of FUT8 increases core fucosylation of alpha-fetoprotein and other glycoproteins, promoting tumor growth and metastasis. | COSMIC, NCBI |
| Non-small cell lung cancer | Elevated FUT8 expression correlates with poor prognosis and increased invasive capacity via altered E-cadherin glycosylation. | COSMIC, NCBI |
| Colorectal cancer | FUT8 upregulation enhances Wnt/β-catenin signaling through fucosylation of LRP5/6 receptors. | COSMIC, NCBI |
| Rheumatoid arthritis | FUT8-mediated core fucosylation of IgG Fc region modulates antibody-dependent cellular cytotoxicity and inflammation. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Colon | 7.1 | Medium |
| Kidney | 6.8 | Medium |
| Brain | 4.2 | Low |
| Heart | 3.5 | Low |
| Skeletal muscle | 2.1 | Low |
| Pancreas | 9.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.2 | High expression |
| A549 (lung cancer) | 11.8 | High expression |
| HeLa (cervical cancer) | 9.5 | Medium expression |
| MCF7 (breast cancer) | 6.3 | Medium expression |
| K562 (leukemia) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.953G>A (p.Arg318Gln) | Missense | <0.01% | Loss of enzyme activity; associated with CDG-IIn |
| c.1120C>T (p.Arg374Trp) | Missense | <0.01% | Reduced core fucosylation; reported in developmental delay |
| c.1465G>A (p.Glu489Lys) | Missense | <0.01% | Impaired substrate binding; linked to CDG |
| c.1792C>T (p.Arg598Cys) | Missense | <0.01% | Decreased stability; found in patients with hypotonia |
| c.2011G>A (p.Gly671Ser) | Missense | <0.01% | Partial loss of function; associated with mild CDG phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg318Gln, p.Arg374Trp) reduce or abolish enzymatic activity, leading to congenital disorder of glycosylation type IIn.
Gain of Function (GOF)
Not well documented; overexpression in cancer is considered a gain-of-function at the expression level rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been reported for FUT8.
View complete mutation data：
Gene Ontology (GO)
| • alpha-(1 | • 6)-fucosyltransferase activity (GO:0008424) |
| • GDP-fucose:beta-N-acetylglucosamine (GlcNAc) alpha-1 | • 6-fucosyltransferase activity (GO:0036065) |
| • protein glycosylation (GO:0006486) | • N-glycan processing (GO:0006491) |
| • Golgi membrane (GO:0000139) | • transferase activity |
| • transferring glycosyl groups (GO:0016757) |
Pathways
• N-Glycan biosynthesis (Reactome: R-HSA-446203)
• Core fucosylation of N-glycans (Reactome: R-HSA-975578)
• Post-translational protein modification (Reactome: R-HSA-597592)
Protein Summary
The FUT8 protein is a 575-amino acid type II transmembrane glycosyltransferase localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme uses GDP-fucose as a donor substrate to add fucose in an alpha-1,6 linkage to the innermost GlcNAc residue of N-glycans. This core fucosylation is essential for the proper function of many glycoproteins, including EGFR, integrins, and IgG. Structural studies reveal a GT-B fold with a Rossmann-like domain. Mutations in the catalytic domain cause loss of function and congenital glycosylation disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUT8 Knockout HEK293T Cell Line | EDJ-KQ209 | Human | 2530 | Details Get a Quote |
| FUT8 Knockout HEK293 Cell Line | EDJ-KQ13532 | Human | 2530 | Details Get a Quote |
| FUT8 Knockout A-549 Cell Line | EDJ-KQ43149 | Human | 2530 | Details Get a Quote |
| FUT8 Knockout HCT 116 Cell Line | EDJ-KQ43150 | Human | 2530 | Details Get a Quote |
| FUT8 Knockout HeLa Cell Line | EDJ-KQ43151 | Human | 2530 | Details Get a Quote |
| Fut8 Knockout CHO-K1 Cell Line | EDC90161 | Hamster | 100751648 | Details Get a Quote |
| FUT8 Knockout Huh-7.5.1 Cell Line | EDJ-KZ258 | Human | 2530 | Details Get a Quote |
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