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FLASH GENE
Symbol FUT1 contributors: mct - updated : 09-11-2012
HGNC name fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)
HGNC id 4012
Corresponding disease
H Bombay phenotype
Location 19q13.33      Physical location : 49.251.269 - 49.258.647
Synonym name H blood group antigen
Synonym symbol(s) FCT2A1, HH, HSC
EC.number 2.4.1.69
DNA
TYPE functioning gene
STRUCTURE 7.38 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - CALM3 - D19S241E - SULT2A1 - LIG1 LIG1 - D19S412 - [DBP - FUT1 - LHB LHB - HRC - SNRP70 - CD37 - KLK1 - SIGLEC6 - RRAS - FUT2 - FUT2P ] - LIM2 - qter
Authors Reguigne-Arnould (95), Rouquier (95), Lovejoy (98)
Text [CA11 ]
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 4246 - 365 - 1997 9054453
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Reproductivefemale systemuteruscervix highly
Respiratorylung   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage transcribed in bone marrow-derived mesenchymal stem cells (MSCs)
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
HOMOLOGY
interspecies ortholog to murine Fut1
ortholog to rattus Fut1
Homologene
FAMILY glycosyltransferase 11 family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
text
  • type II membrane protein
  • membrane-bound form in trans cisternae of Golgi
  • basic FUNCTION
  • creating a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway
  • regulating the expression of ABO antigenes in erythrocyte membranes and related antigens in several tissues
  • fucosyltransferase required for the biosynthesis of the terminal glycan motif
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
  • essential core member of NOTCH signaling pathways in mammals
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other macrophages regulate expression of FUT1 genes in human endometrial epithelial cells, which could contribute to the pathophysiology of primary unexplained infertility in women
    ASSOCIATED DISORDERS
    corresponding disease(s) H
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    mRNA transcription was lost during differentiation of mesenchymal stem cells (MSCs)
    constitutional       loss of function
    FUT1 allele 235C was identified, which greatly diminished the activity of FUT1, associated withVpara-Bombay phenotype (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse embryos lacking protein Fut1 die at midgestation with severe defects in somitogenesis, vasculogenesis, cardiogenesis, and neurogenesis