Gene Gene information from NCBI Gene database.
Entrez ID 2523
Gene name Fucosyltransferase 1 (H blood group)
Gene symbol FUT1
Synonyms (NCBI Gene)
HHHHSC
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fuc
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs28934588 A>C Affects, pathogenic Coding sequence variant, missense variant
rs104894686 G>A,C Affects Stop gained, coding sequence variant, synonymous variant
rs104894687 A>T Pathogenic Coding sequence variant, missense variant
rs104894688 G>A Pathogenic Coding sequence variant, stop gained
rs150074056 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
499
miRTarBase ID miRNA Experiments Reference
MIRT021792 hsa-miR-132-3p Microarray 17612493
MIRT718759 hsa-miR-1273f HITS-CLIP 19536157
MIRT718758 hsa-miR-8069 HITS-CLIP 19536157
MIRT718756 hsa-miR-5087 HITS-CLIP 19536157
MIRT718757 hsa-miR-8068 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001936 Process Regulation of endothelial cell proliferation IEA
GO:0001936 Process Regulation of endothelial cell proliferation ISS
GO:0001954 Process Positive regulation of cell-matrix adhesion IMP 18205178
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
211100 4012 ENSG00000174951
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19526
Protein name Galactoside alpha-(1,2)-fucosyltransferase 1 (Alpha(1,2)FT 1) (Blood group H alpha 2-fucosyltransferase) (Fucosyltransferase 1) (GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1) (Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1) (EC 2
Protein function Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose residue of glycoconjugates through an alpha(1,2) linkage leading to H antigen synthesis that is an intermediate substrate in the synthesis
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01531 Glyco_transf_11 37 353 Glycosyl transferase family 11 Family
Sequence
Sequence length 365
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosphingolipid biosynthesis - lacto and neolacto series
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways
  ABO blood group biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bombay phenotype Pathogenic rs28934588 RCV000735637
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BOMBAY PHENOTYPE, DIGENIC Pathogenic rs28934588 RCV000012925
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FUT1-related disorder Pathogenic rs777455020 RCV003901455
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Para-Bombay phenotype Pathogenic rs150074056, rs104894687, rs104894688 RCV000207394
RCV000012923
RCV000012924
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 24467809
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 27560716, 40084262
★☆☆☆☆
Found in Text Mining only
Carcinoma Associate 29130097
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 28883415
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 31894325
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Associate 27240592
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 35955933
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Associate 31754244
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Associate 35462848
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 17459061, 23533340, 32196589, 33572952, 34576039
★☆☆☆☆
Found in Text Mining only