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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 ]
Physical map
GRWD1 19q13.33 glutamate-rich WD repeat containing 1 KCNJ14 19q13 potassium inwardly-rectifying channel, subfamily J, member 14 PSCD2 19q13.3 pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) KIAA1883 SULT2B1 19q13.3 sulfotransferase family, cytosolic, 2B, member 1 FLJ20200 19q13.33 hypothetical protein FLJ20200 SPACA4 19q13.3-14 sperm acrosome associated 4 RPL18 19q13.3 ribosomal protein L18 SPHK2 19q13.2 sphingosine kinase 2 DBP 19q13.3 D site of albumin promoter (albumin D-box) binding protein CA11 19q13.3 carbonic anhydrase XI LOC126147 19q13.33 hypothetical protein BC018697 FUT2 19q13.3 fucosyltransferase 2 (secretor status included) FLJ36070 19q13.33 hypothetical protein FLJ36070 RAIN 19q13.33 Ras-interacting protein MGC34799 19q13.33 hypothetical protein MGC34799 FUT1 19q13.3 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included) FGF21 19q13.1-qter fibroblast growth factor 21 BCAT2 19q13.3 branched chain aminotransferase 2, mitochondrial DHRS10 19q13.33 dehydrogenase/reductase (SDR family) member 10 PLEKHA4 19q13.33 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 PPP1R15A 19q13.2 protein phosphatase 1, regulatory (inhibitor) subunit 15A TULP2 19q13.1 tubby like protein 2 NUCB1 19q13.32 nucleobindin 1 DHDH 19q13.3 dihydrodiol dehydrogenase (dimeric) BAX 19q13.3-q13.4 BCL2-associated X protein FTL 19q13.3 ferritin, light polypeptide GYS1 19q13.3 glycogen synthase 1 (muscle) RUVBL2 19q13.3 RuvB-like 2 (E. coli)
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