FUT1 Gene - Fucosyltransferase 1 (H Blood Group)
Essential enzyme for H antigen synthesis and ABO blood group determination
Gene Information Card
| Symbol | FUT1 |
|---|---|
| Full Name | Fucosyltransferase 1 (H Blood Group) |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 2523 ncbi.nlm.nih.gov/gene/2523 |
| Ensembl ID | ENSG00000174944 |
| UniProt ID | P19526 |
| OMIM ID | 211100 |
| HGNC ID | 4012 |
| Aliases | H, H blood group, alpha-1,2-fucosyltransferase, FUT1P, H gene |
Description
The FUT1 gene encodes the alpha-1,2-fucosyltransferase enzyme responsible for the synthesis of the H antigen on red blood cells and other tissues. The H antigen is the precursor for A and B blood group antigens. Inactivating mutations in FUT1 result in the Bombay phenotype (hh), characterized by the absence of H antigen and anti-H antibodies in serum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bombay phenotype (hh) | Loss-of-function mutations in FUT1 prevent H antigen synthesis, leading to absence of A, B, and H antigens on red blood cells. | ClinVar, OMIM |
| Para-Bombay phenotype | Partial deficiency of FUT1 activity results in weak or absent H antigen expression. | ClinVar, OMIM |
| Hereditary alpha-1,2-fucosyltransferase deficiency | Mutations in FUT1 cause reduced enzyme activity, affecting blood group determination. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Small intestine | 8.3 | Medium |
| Colon | 6.7 | Medium |
| Lung | 4.2 | Low |
| Liver | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line, high expression |
| HepG2 | 8.9 | Hepatocellular carcinoma, moderate expression |
| A549 | 3.4 | Lung carcinoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.328G>A (p.Gly110Arg) | Missense | Rare | Loss of enzyme activity, associated with Bombay phenotype |
| c.349C>T (p.Arg117Cys) | Missense | Rare | Loss of enzyme activity, associated with Bombay phenotype |
| c.658C>T (p.Arg220Ter) | Nonsense | Rare | Premature stop, complete loss of function |
| c.547-1G>A | Splice site | Rare | Splicing defect, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FUT1 mutations are loss-of-function, leading to reduced or absent alpha-1,2-fucosyltransferase activity and the Bombay or para-Bombay phenotype.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FUT1.
Dominant Negative (DN)
No dominant-negative mutations have been described for FUT1.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
| • fucosyltransferase activity (GO:0008417) | • protein glycosylation (GO:0006486) |
| • glycosphingolipid biosynthetic process (GO:0006688) |
Pathways
• Blood group biosynthesis (Homo sapiens)
• Glycosphingolipid biosynthesis - lacto and neolacto series
Protein Summary
The FUT1 protein is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the transfer of fucose from GDP-fucose to the terminal galactose of glycoproteins and glycolipids, forming the H antigen (Fucα1-2Galβ1-4GlcNAc). This enzyme is critical for ABO blood group antigen expression and is highly expressed in bone marrow and epithelial tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUT1 Knockout HEK293 Cell Line | EDJ-KQ2701 | Human | 2523 | Details Get a Quote |
| POFUT1 Knockout HEK293 Cell Line | EDJ-KQ3541 | Human | 23509 | Details Get a Quote |
| POFUT1 Knockout A-549 Cell Line | EDJ-KQ24010 | Human | 23509 | Details Get a Quote |
| FUT1 Knockout HCT 116 Cell Line | EDJ-KQ23540 | Human | 2523 | Details Get a Quote |
| POFUT1 Knockout HCT 116 Cell Line | EDJ-KQ25388 | Human | 23509 | Details Get a Quote |
| POFUT1 Knockout HeLa Cell Line | EDJ-KQ25389 | Human | 23509 | Details Get a Quote |
| FUT1 Knockout HeLa Cell Line | EDJ-KQ53275 | Human | 2523 | Details Get a Quote |
| FUT1 Knockout A-549 Cell Line | EDJ-KQ61757 | Human | 2523 | Details Get a Quote |
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