FUT1 - fucosyltransferase 1 (H blood group) Gene
Also Known as H; HH; HSC
Species: Homo sapiens
About FUT1
This gene has 7 transcripts (splice variants), 141 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in stomach (RPKM 2.7), pancreas (RPKM 2.4) and 23 other tissues.
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-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]
FUT1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000148.4 | NP_000139.1 | galactoside alpha-(1,2)-fucosyltransferase 1 |
| NM_001329877.1 | NP_001316806.1 | galactoside alpha-(1,2)-fucosyltransferase 1 |
| NM_001384359.1 | NP_001371288.1 | galactoside alpha-(1,2)-fucosyltransferase 1 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of cell-matrix adhesion |
IMP
IMP: Inferred from mutant phenotype
|
18205178 | GOA |
| involved in positive regulation of endothelial cell migration |
IMP
IMP: Inferred from mutant phenotype
|
18205178 | GOA |
| involved in positive regulation of endothelial cell-matrix adhesion via fibronectin |
IMP
IMP: Inferred from mutant phenotype
|
18205178 | GOA |
| involved in positive regulation of sprouting angiogenesis |
IMP
IMP: Inferred from mutant phenotype
|
18205178 | GOA |
FUT1 Protein Structure
Glyco_transf_11: Glycosyl transferase family 11 (38 - 353)
- 0
- 100
- 200
- 300
- 365 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
galactoside alpha-(1,2)-fucosyltransferase 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Bombay Phenotype |
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| Hemorrhagic Disease |
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| Orange Allergy |
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| Chronic Purulent Otitis Media |
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| Suppurative Otitis Media |
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| Dowling-Degos Disease |
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| Niemann-Pick Disease, Type C1 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | FUT1 | MGD | MGI:109375 |
| Rattus norvegicus | FUT1 | RGD | RGD:2638 |
| Bos taurus | FUT1 | VGNC | VGNC:49145 |
| Others | FUT1 | NCBI |