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Aliases for FUT1 Gene

Aliases for FUT1 Gene

  • Fucosyltransferase 1 (H Blood Group) 2 3 5
  • GDP-L-Fucose:Beta-D-Galactoside 2-Alpha-L-Fucosyltransferase 1 3 4
  • Blood Group H Alpha 2-Fucosyltransferase 3 4
  • Galactoside 2-Alpha-L-Fucosyltransferase 2 3
  • Alpha(1,2)FT 1 3 4
  • HSC 3 4
  • H 3 4
  • Fucosyltransferase 1 (Galactoside 2-Alpha-L-Fucosyltransferase, Bombay Phenotype Included) 2
  • Fucosyltransferase 1 (Galactoside 2-Alpha-L-Fucosyltransferase) 2
  • Galactoside 2-Alpha-L-Fucosyltransferase 1 3
  • Nonfunctional Fucosyltransferase 1 3
  • Alpha(1,2) Fucosyltransferase 1 3
  • Truncated Fucosyltransferase 1 3
  • Fucosyltransferase 1 4
  • EC 4
  • HH 3

External Ids for FUT1 Gene

Previous HGNC Symbols for FUT1 Gene

  • H
  • HSC

Previous GeneCards Identifiers for FUT1 Gene

  • GC19M049964
  • GC19M049619
  • GC19M053927
  • GC19M053943
  • GC19M049251
  • GC19M045630

Summaries for FUT1 Gene

Entrez Gene Summary for FUT1 Gene

  • 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]

GeneCards Summary for FUT1 Gene

FUT1 (Fucosyltransferase 1 (H Blood Group)) is a Protein Coding gene. Diseases associated with FUT1 include Bombay Phenotype and Cd45 Deficiency. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Globo Sphingolipid Metabolism. Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and galactoside 2-alpha-L-fucosyltransferase activity. An important paralog of this gene is FUT2.

UniProtKB/Swiss-Prot for FUT1 Gene

  • Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway.

Gene Wiki entry for FUT1 Gene

Additional gene information for FUT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FUT1 Gene

Genomics for FUT1 Gene

GeneHancer (GH) Regulatory Elements for FUT1 Gene

Promoters and enhancers for FUT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J048751 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.3 +2.3 2254 2.7 HDGF PKNOX1 ARNT NEUROD1 SIN3A FEZF1 ZBTB7B POLR2B ZNF766 ZNF143 FUT1 GC19P048754 PRR12 GRWD1 SNRNP70 RASIP1 SNORD35A ADM5 IZUMO1 NOP53-AS1
GH19J048755 Promoter/Enhancer 1.3 EPDnew ENCODE 650.7 +0.0 37 0.7 HDAC1 PKNOX1 NFRKB FEZF1 RAD21 YY1 ZNF335 RCOR1 ATF7 THAP11 FUT1 GC19P048754 FGF21 RASIP1 IZUMO1
GH19J048756 Promoter 0.9 EPDnew 650.7 -0.7 -662 0.1 TAF1 RXRA HLF CEBPB REST RAD21 YY1 SP1 ZNF335 ATF3 FGF21 GC19P048754 FUT1 GC19P048785
GH19J048724 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.5 +29.6 29589 3.5 HDGF ATF1 ARNT ETS1 ZNF766 E2F8 ZNF143 ATF7 RUNX3 SP3 FUT2 IZUMO1 PRR12 FUT1 FGF21 SEC1P DBP BCAT2 PRMT1 SNRNP70
GH19J048977 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.1 -223.8 -223756 2.9 PKNOX1 ATF1 SIN3A GLIS2 ZNF143 FOS ATF7 RUNX3 SP3 JUNB NUCB1-AS1 NUCB1 KCNA7 TULP2 CGB7 NTF4 C19orf73 FUT1 GC19P048966 GC19P048967
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FUT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FUT1 gene promoter:
  • STAT3
  • MyoD
  • PPAR-gamma2
  • PPAR-gamma1
  • ATF
  • p300

Genomic Locations for FUT1 Gene

Genomic Locations for FUT1 Gene
7,380 bases
Minus strand
7,380 bases
Minus strand

Genomic View for FUT1 Gene

Genes around FUT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUT1 Gene

Proteins for FUT1 Gene

  • Protein details for FUT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Galactoside 2-alpha-L-fucosyltransferase 1
    Protein Accession:
    Secondary Accessions:
    • O14505
    • O14506
    • O14507

    Protein attributes for FUT1 Gene

    365 amino acids
    Molecular mass:
    41251 Da
    Quaternary structure:
    No Data Available
    • There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.

neXtProt entry for FUT1 Gene

Post-translational modifications for FUT1 Gene

  • Glycosylation at isoforms=327 and isoforms=65
  • Modification sites at PhosphoSitePlus

Other Protein References for FUT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FUT1 Gene

Domains & Families for FUT1 Gene

Gene Families for FUT1 Gene

Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • Enzymes
  • Predicted membrane proteins

Protein Domains for FUT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 11 family.
  • Belongs to the glycosyltransferase 11 family.
genes like me logo Genes that share domains with FUT1: view

Function for FUT1 Gene

Molecular function for FUT1 Gene

UniProtKB/Swiss-Prot Function:
Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
GDP-beta-L-fucose + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R = GDP + alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.4 mM for phenyl beta-D-galactoside {ECO:0000269 PubMed:2118655};
GENATLAS Biochemistry:
fucosyltransferase,alpha-(1,2),1 (synthesis of H blood antigen),regulating the expression of ABO antigenes in erythrocyte membranes and related antigens in several tissues

Enzyme Numbers (IUBMB) for FUT1 Gene

Phenotypes From GWAS Catalog for FUT1 Gene

Gene Ontology (GO) - Molecular Function for FUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008107 galactoside 2-alpha-L-fucosyltransferase activity TAS 11698403
GO:0008417 fucosyltransferase activity TAS 2118655
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with FUT1: view
genes like me logo Genes that share phenotypes with FUT1: view

Animal Models for FUT1 Gene

MGI Knock Outs for FUT1:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FUT1 Gene

Localization for FUT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUT1 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FUT1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
extracellular 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus TAS 11698403
GO:0005887 integral component of plasma membrane TAS 2118655
GO:0016020 membrane TAS 2118655
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with FUT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FUT1 Gene

Pathways & Interactions for FUT1 Gene

genes like me logo Genes that share pathways with FUT1: view

UniProtKB/Swiss-Prot P19526-FUT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for FUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 2118655
GO:0006486 protein glycosylation TAS 11698403
GO:0036065 fucosylation IEA --
GO:0042355 L-fucose catabolic process NAS 11698403
genes like me logo Genes that share ontologies with FUT1: view

No data available for SIGNOR curated interactions for FUT1 Gene

Drugs & Compounds for FUT1 Gene

(2) Drugs for FUT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0

(1) Additional Compounds for FUT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (6-Deoxy-beta-L-galactopyranosyl) ester
  • GDP Fucose
  • GDP-beta-L-Fucose
  • Guanosine diphosphate fucose
  • Guanosine diphosphofucose
genes like me logo Genes that share compounds with FUT1: view

Transcripts for FUT1 Gene

mRNA/cDNA for FUT1 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(41) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FUT1 Gene

Fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FUT1 Gene

No ASD Table

Relevant External Links for FUT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FUT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FUT1 Gene

mRNA differential expression in normal tissues according to GTEx for FUT1 Gene

This gene is overexpressed in Pancreas (x9.8) and Stomach (x5.6).

NURSA nuclear receptor signaling pathways regulating expression of FUT1 Gene:


SOURCE GeneReport for Unigene cluster for FUT1 Gene:


Evidence on tissue expression from TISSUES for FUT1 Gene

  • Nervous system(4.8)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FUT1 Gene

Germ Layers:
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • thymus
  • liver
  • spleen
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with FUT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FUT1 Gene

Orthologs for FUT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FUT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FUT1 34 33
  • 99.36 (n)
(Canis familiaris)
Mammalia FUT1 33
  • 84.2 (n)
-- 34
  • 52 (a)
(Bos Taurus)
Mammalia FUT1 34 33
  • 81.71 (n)
(Rattus norvegicus)
Mammalia Fut1 33
  • 78.03 (n)
(Mus musculus)
Mammalia Fut1 16 34 33
  • 77.25 (n)
(Monodelphis domestica)
Mammalia FUT1 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia FUT1 34
  • 42 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fut1 33
  • 57.29 (n)
Species where no ortholog for FUT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FUT1 Gene

Gene Tree for FUT1 (if available)
Gene Tree for FUT1 (if available)
Evolutionary constrained regions (ECRs) for FUT1: view image

Paralogs for FUT1 Gene

Paralogs for FUT1 Gene

(4) SIMAP similar genes for FUT1 Gene using alignment to 18 proteins:

  • A7XM28_HUMAN
  • A7XM32_HUMAN
  • A7XM36_HUMAN
  • C0L7J0_HUMAN
  • C7F6W7_HUMAN
  • F1D990_HUMAN
  • F5BH05_HUMAN
  • I7C6Y9_HUMAN
  • T1WH77_HUMAN
  • U5NK91_HUMAN
genes like me logo Genes that share paralogs with FUT1: view

Variants for FUT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for FUT1 Gene

Genetic variations in FUT1 define the H blood group and are responsible for the Bombay and para-Bombay phenotypes [MIM:616754]. Erythrocytes from individuals with the Bombay and para-Bombay blood group phenotypes are deficient in H antigens.

Sequence variations from dbSNP and Humsavar for FUT1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs104894686 affects, Bombay phenotype 48,750,334(-) G/A/C coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs104894687 pathogenic, Para-Bombay phenotype 48,750,791(-) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894688 pathogenic, Para-Bombay phenotype 48,750,456(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs150074056 pathogenic, Para-Bombay phenotype 48,750,933(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs28934588 affects, Bombay phenotype 48,750,557(-) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FUT1 Gene

Variant ID Type Subtype PubMed ID
esv2718685 CNV deletion 23290073
nsv833855 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for FUT1 Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FUT1 Gene

Human Gene Mutation Database (HGMD)
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for FUT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FUT1 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bombay phenotype
cd45 deficiency
dowling-degos disease
  • dark dot disease
- elite association - COSMIC cancer census association via MalaCards
Search FUT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FUT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FUT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FUT1 Gene

Publications for FUT1 Gene

  1. [Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population]. (PMID: 16331565) Xu XG … Yan LX (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005) 3 22 44 58
  2. Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles. (PMID: 9122901) Wagner FF … Flegel WA (Transfusion 1997) 3 4 22 58
  3. Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. (PMID: 9299444) Koda Y … Kimura H (Biochemical and biophysical research communications 1997) 3 4 22 58
  4. Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria. (PMID: 19572973) Matzhold EM … Lanzer G (Transfusion 2009) 3 22 58
  5. Involvement of alpha 1-2-fucosyltransferase I (FUT1) and surface-expressed Lewis(y) (CD174) in first endothelial cell-cell contacts during angiogenesis. (PMID: 18205178) Moehler TM … Schwartz-Albiez R (Journal of cellular physiology 2008) 3 22 58

Products for FUT1 Gene

Sources for FUT1 Gene

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