FUT1 - fucosyltransferase 1 (H blood group) Gene

Also Known as H; HH; HSC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2523

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
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
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

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

  • 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

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