Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2523
Gene name Gene Name - the full gene name approved by the HGNC.
Fucosyltransferase 1 (H blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FUT1
Synonyms (NCBI Gene) Gene synonyms aliases
H, HH, HSC
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001936 Process Regulation of endothelial cell proliferation ISS
GO:0001954 Process Positive regulation of cell-matrix adhesion IMP 18205178
GO:0005794 Component Golgi apparatus TAS 11698403
GO:0005887 Component Integral component of plasma membrane TAS 2118655
GO:0005975 Process Carbohydrate metabolic process TAS 2118655
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
211100 4012 ENSG00000174951
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 24467809
Breast Neoplasms Associate 27560716, 40084262
Carcinoma Associate 29130097
Carcinoma Hepatocellular Associate 28883415
Carcinoma Non Small Cell Lung Associate 31894325
Carcinoma Ovarian Epithelial Associate 27240592
Carcinoma Renal Cell Associate 35955933
Cholangiocarcinoma Associate 31754244
Colonic Neoplasms Associate 35462848
Colorectal Neoplasms Associate 17459061, 23533340, 32196589, 33572952, 34576039