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FLASH GENE

Symbol

FUT1

contributors: mct - updated : 09-11-2015

HGNC name	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)
HGNC id	4012

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 - HRC - SNRP70 - CD37 - KLK1 - SIGLEC6 - RRAS - FUT2 - FUT2P ] - LIM2 - qter
Authors	Reguigne-Arnould (95), Rouquier (95), Lovejoy (98)
Text	[CA11 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000148 4 - 4246 - 365 - 1997 9054453

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Reproductive female system uterus cervix   highly Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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 ( tumoral         altered expression of fucosylation pathway gene(FUT1), correlated with poor survival in patients with non&8209;small cell lung cancer (NSCLC)

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