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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FUT1
fucosyltransferase 1 (H blood group)
Chromosome 19 · 19q13.33
NCBI Gene: 2523Ensembl: ENSG00000174951.13HGNC: HGNC:4012UniProt: P19526
88PubMed Papers
20Diseases
0Drugs
6Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of sprouting angiogenesispositive regulation of endothelial cell migrationpositive regulation of endothelial cell-matrix adhesionpositive regulation of cell-matrix adhesionalbuminuriainflammatory bowel diseaseCrohn's diseasecholelithiasis
✦AI Summary

FUT1 encodes fucosyltransferase 1, a Golgi membrane enzyme that catalyzes the transfer of L-fucose to terminal galactose residues through α(1,2) linkage, essential for H antigen synthesis and ABO blood group antigen formation 1. Beyond blood group determination, FUT1 plays critical roles in cancer biology and immune regulation. In hepatocellular carcinoma, glucose deprivation upregulates FUT1 through PERK/eIF2α/ATF4 signaling, promoting cancer stemness by fucosylating key glycoproteins including CD147, ICAM-1, EGFR, and EPHA2, which converge on AKT/mTOR/4EBP1 pathways to drive tumor initiation, self-renewal, and drug resistance 2. Pan-cancer analysis reveals FUT1 overexpression correlates with poor prognosis in multiple cancer types and associates with proliferation, metastasis, and epithelial-mesenchymal transition pathways 3. FUT1 also regulates immune function, as its deficiency causes immune dysregulation and corneal opacity through enhanced Th1 cell activation and inflammatory responses 4. In allergic rhinitis, FUT1 downregulation improves dendritic cell IL-10 metabolism and suppresses Th2 differentiation through the FUT1/ICAM1/P38 MAPK pathway 5. Clinically, FUT1 mutations cause rare Bombay and para-Bombay blood phenotypes, creating transfusion challenges due to anti-H antibodies 6.

Sources cited
1
FUT1 encodes α(1,2)fucosyltransferase essential for H antigen synthesis and ABO blood group formation
PMID: 37838738
2
Glucose deprivation upregulates FUT1 via PERK/eIF2α/ATF4 signaling, promoting cancer stemness through fucosylation of CD147, ICAM-1, EGFR, and EPHA2
PMID: 33878034
3
FUT1 overexpression correlates with poor prognosis across multiple cancer types and associates with proliferation, metastasis, and EMT pathways
PMID: 40084262
4
FUT1 deficiency causes immune dysregulation and corneal opacity through enhanced Th1 cell activation
PMID: 32332708
5
FUT1 downregulation improves DC IL-10 metabolism and suppresses Th2 differentiation via FUT1/ICAM1/P38 MAPK pathway
PMID: 39294599
6
FUT1 mutations cause Bombay and para-Bombay blood phenotypes with transfusion complications
PMID: 34967725
Disease Associationsⓘ20
albuminuriaOpen Targets
0.29Weak
inflammatory bowel diseaseOpen Targets
0.21Weak
Crohn's diseaseOpen Targets
0.19Weak
cholelithiasisOpen Targets
0.17Weak
neurodegenerative diseaseOpen Targets
0.17Weak
duodenal ulcerOpen Targets
0.17Weak
neoplasmOpen Targets
0.12Weak
cancerOpen Targets
0.11Weak
Mobius syndromeOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
skin basal cell carcinomaOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
osteosarcomaOpen Targets
0.10Suggestive
ovarian cancerOpen Targets
0.09Suggestive
chronic myelogenous leukemiaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
Pathogenic Variants6
NM_001384359.1(FUT1):c.788dup (p.Asn263fs)Likely pathogenic
Bombay phenotype
★☆☆☆2025→ Residue 263
NM_001384359.1(FUT1):c.881_882del (p.Phe294fs)Pathogenic
FUT1-related disorder
☆☆☆☆2023→ Residue 294
NM_001384359.1(FUT1):c.349C>T (p.His117Tyr)Pathogenic
Para-Bombay phenotype
☆☆☆☆2016→ Residue 117
NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg)Pathogenic
BOMBAY PHENOTYPE, DIGENIC|Bombay phenotype
☆☆☆☆1997→ Residue 242
NM_001384359.1(FUT1):c.491T>A (p.Leu164His)Pathogenic
Para-Bombay phenotype
☆☆☆☆1994→ Residue 164
NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter)Pathogenic
Para-Bombay phenotype
☆☆☆☆1994→ Residue 276
View on ClinVar ↗
Related Genes
ABOProtein interaction99%B4GALT1Protein interaction99%B3GALT5Protein interaction95%ST3GAL4Protein interaction95%ST3GAL1Protein interaction95%B3GNT3Protein interaction95%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
88%
Brain
41%
Heart
40%
Liver
17%
Ovary
8%
Gene Interaction Network
Click a node to explore
FUT1ABOB4GALT1B3GALT5ST3GAL4ST3GAL1B3GNT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P19526
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.89LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.19 [0.55–1.89]
RankingsWhere FUT1 stands among ~20K protein-coding genes
  • #5,408of 20,598
    Most Researched88
  • #3,351of 5,498
    Most Pathogenic Variants6
  • #17,205of 17,882
    Most Constrained (LOEUF)1.89
Genes detectedFUT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Glucose deprivation-induced aberrant FUT1-mediated fucosylation drives cancer stemness in hepatocellular carcinoma.
PMID: 33878034
J Clin Invest · 2021
1.00
2
New insights into allergic rhinitis treatment: MSC nanovesicles targeting dendritic cells.
PMID: 39294599
J Nanobiotechnology · 2024
0.90
3
[Genetic analysis of a blood donor with combined FUT1 and ABO dual blood group gene variants resulting in para-Bombay and A2 subtype blood types and a literature review].
PMID: 39528290
Zhonghua Yi Xue Yi Chuan Xue Za Zhi · 2024
0.80
4
FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.
PMID: 37838738
Sci Rep · 2023
0.70
5
Gene expression profiling reveals upregulated FUT1 and MYBPC1 in children with pancreaticobiliary maljunction.
PMID: 31365696
Braz J Med Biol Res · 2019
0.60