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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 (Fucosyltransferase 1 (H Blood Group)) is a Protein Coding gene. Diseases associated with FUT1 include Bombay Phenotype and Orange Allergy. Among its related pathways are Immune response Lectin induced complement pathway and Glycosphingolipid biosynthesis - lacto and neolacto series. Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and galactoside 2-alpha-L-fucosyltransferase activity. An important paralog of this gene is FUT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008107 | galactoside 2-alpha-L-fucosyltransferase activity | IBA,TAS | 11698403 |
GO:0008417 | fucosyltransferase activity | TAS | 2118655 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0031127 | alpha-(1,2)-fucosyltransferase activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | Golgi apparatus | TAS | 11698403 |
GO:0005887 | integral component of plasma membrane | TAS | 2118655 |
GO:0016020 | membrane | TAS | 2118655 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0032580 | Golgi cisterna membrane | IEA | -- |
Symbol | External ID(s) | Details |
---|---|---|
B3GNT4 | ||
CEBPA | ||
CSGALNACT2 | ||
FUT4 | ||
FUT5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001936 | regulation of endothelial cell proliferation | ISS | -- |
GO:0001954 | positive regulation of cell-matrix adhesion | IMP | 18205178 |
GO:0005975 | carbohydrate metabolic process | TAS | 2118655 |
GO:0006486 | protein glycosylation | IBA,TAS | 11698403 |
GO:0010595 | positive regulation of endothelial cell migration | IMP | 18205178 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
GDP-L-fucose |
|
15839-70-0 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FUT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FUT1 30 |
|
||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | FUT1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fut1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fut1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FUT1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FUT1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fut1 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
733897 | Benign: not provided | 48,751,225(-) | G/C | SYNONYMOUS_VARIANT | |
rs104894686 | Affects: Bombay phenotype | 48,750,334(-) | G/C | NONSENSE | |
rs104894687 | Pathogenic: Para-Bombay phenotype. - | 48,750,791(-) | A/Tp.Leu164His | MISSENSE_VARIANT | |
rs104894688 | Pathogenic: Para-Bombay phenotype | 48,750,456(-) | G/A | NONSENSE | |
rs150074056 | Pathogenic: Para-Bombay phenotype | 48,750,933(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
bombay phenotype |
|
|
orange allergy |
|
|
lipodystrophy, congenital generalized, type 2 |
|
|
niemann-pick disease, type c1 |
|
|