FUT1 - fucosyltransferase 1 (H blood group) Gene

Homo sapiens

Also known as H; HH; HSC

Gene ID: 2523 | Gene type: protein coding

About FUT1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,748,011-48,755,358 (from NCBI)

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

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FUT1 Protein Structure

Glyco_transf_11

0
100
200
300
365 a.a.

Protein Preferred Names

Protein Names

galactoside alpha-(1,2)-fucosyltransferase 1

GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1

Related Diseases

Diseases

Alias

Bombay Phenotype

Bombay Phenotype, Digenic

Hemorrhagic Disease

Hemorrhagic Disorders	Hemorrhagic Diathesis
Hemorrhagic Diseases	Bleeding Tendency
Acquired Coagulation Factor Inhibitor Disorder	Acquired Inhibitor Of Coagulation
Antithrombinaemia	Antithromboplastinogenaemia
Circulating Anticoagulant Disorder	Haemorrhagic Disorder Due To Antithrombinaemia
Haemorrhagic Disorder Due To Excess Administered Heparin	Antithromboplastinaemia
Haemorrhagic Disorder Due To Hyperheparinemia

Orange Allergy

Citrus Sinensis Fruit Allergy

Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]

Suppurative Otitis Media

Otitis Media With Effusion - Purulent	Purulent Otitis Media
Otitis Media, Suppurative

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05150	FUT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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