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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
  • Galactoside 2-Alpha-L-Fucosyltransferase 2 3
  • Blood Group H Alpha 2-Fucosyltransferase 3 4
  • Alpha(1,2)FT 1 3 4
  • EC 2.4.1.69 4 61
  • 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
  • Alpha(1,2) Fucosyltransferase 1 3
  • Fucosyltransferase 1 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 Cd45 Deficiency. Among its related pathways are Globo Sphingolipid Metabolism and Glycosphingolipid biosynthesis - ganglio series. 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)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values.

Gene Wiki entry 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

Regulatory Elements for FUT1 Gene

Enhancers for FUT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048724 1.5 Ensembl ENCODE dbSUPER 12.5 +29.6 29589 3.5 HDGF ATF1 CREB3L1 ETS1 ZNF766 ELK1 ZNF143 FOS SP3 YY2 FUT2 PRR12 IZUMO1 ADM5 FGF21 FUT1 PIH1D1 DBP SEC1P BCAT2
GH19G048751 1.3 ENCODE dbSUPER 7.2 +2.3 2254 2.7 HDGF PKNOX1 ARNT SIN3A FEZF1 ZBTB7B ZNF766 ZNF548 ZNF263 SP3 PRR12 IZUMO1 GRWD1 RPS9P4 SNORD35A RASIP1 ADM5 SNORD35B ALDH16A1 FUT1
GH19G048977 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.1 -223.8 -223757 2.9 PKNOX1 ATF1 SIN3A GLIS2 ZNF143 FOS SP3 JUNB TSHZ1 ZNF623 NUCB1-AS1 NUCB1 KCNA7 TULP2 CGB7 NTF4 C19orf73 FUT1 RUVBL2 GYS1
GH19G048395 1.8 FANTOM5 Ensembl ENCODE 1.4 +356.7 356671 6.3 CREB3L1 DMAP1 YBX1 YY1 ZNF143 SP3 MCM3 NFYC MEF2D ZNF610 BICRA CCDC114 GRIN2D GRWD1 PPP1R15A CARD8-AS1 EMP3 FUT1 IZUMO1 KDELR1
GH19G048755 0.9 ENCODE 0.7 +0.0 37 0.7 HDAC1 PKNOX1 NFRKB FEZF1 RAD21 YY1 RCOR1 THAP11 ZNF263 SP3 RASIP1 IZUMO1 FUT1 GC19P048754
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FUT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FUT1 Gene

Chromosome:
19
Start:
48,748,011 bp from pter
End:
48,755,390 bp from pter
Size:
7,380 bases
Orientation:
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:
    P19526-FUT1_HUMAN
    Recommended name:
    Galactoside 2-alpha-L-fucosyltransferase 1
    Protein Accession:
    P19526
    Secondary Accessions:
    • O14505
    • O14506
    • O14507

    Protein attributes for FUT1 Gene

    Size:
    365 amino acids
    Molecular mass:
    41251 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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

Selected DME Specific Peptides for FUT1 Gene

P19526:
  • FVVTSNGM
  • LAPVFRI
  • EFTLHDH
  • PVFVVTS
  • LHDWMSE
  • VGVHVRRGDY
  • LCLAFLLVC
  • CPQHPASLSGTWT
  • FAGDGQEA
  • LVTPPVAIFCLPG
  • GGDTVYLAN
  • QCNHTIMTIGTFG
  • FRITLPVL
  • KDFALLTQCNHT
  • AAFLPEW
  • MTIGTFGFWAAYL
  • GRFGNQMGQYATLLALAQLNGRRAFI
  • GFPCSWTFFHH
  • LCPDRRLVT

Post-translational modifications for FUT1 Gene

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

Other Protein References for FUT1 Gene

Domains & Families for FUT1 Gene

Gene Families for FUT1 Gene

Protein Domains for FUT1 Gene

Graphical View of Domain Structure for InterPro Entry

P19526

UniProtKB/Swiss-Prot:

FUT1_HUMAN :
  • Belongs to the glycosyltransferase 11 family.
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

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
UniProtKB/Swiss-Prot CatalyticActivity:
GDP-beta-L-fucose + beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = GDP + alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
UniProtKB/Swiss-Prot Function:
Creates 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. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values.

Enzyme Numbers (IUBMB) 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

  • Taconic Biosciences Mouse Models for FUT1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

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

(1) Drugs for FUT1 Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GDP-L-fucose
  • (6-deoxy-beta-L-galactopyranosyl) ester
  • GDP Fucose
  • GDP-beta-L-Fucose
  • Guanosine diphosphate fucose
  • Guanosine diphosphofucose
15839-70-0
genes like me logo Genes that share compounds with FUT1: view

Transcripts for FUT1 Gene

Unigene Clusters for FUT1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FUT1 Gene

GeneLoc Exon Structure for
FUT1
ECgene alternative splicing isoforms for
FUT1

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:

FUT1

SOURCE GeneReport for Unigene cluster for FUT1 Gene:

Hs.69747

Evidence on tissue expression from TISSUES for FUT1 Gene

  • Nervous system(4.8)

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

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia FUT1 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia FUT1 34
  • 84.2 (n)
-- 35
  • 52 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia FUT1 34 35
  • 81.71 (n)
rat
(Rattus norvegicus)
Mammalia Fut1 34
  • 78.03 (n)
mouse
(Mus musculus)
Mammalia Fut1 34 16 35
  • 77.25 (n)
oppossum
(Monodelphis domestica)
Mammalia FUT1 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUT1 35
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fut1 34
  • 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

ENSEMBL:
Gene Tree for FUT1 (if available)
TreeFam:
Gene Tree for FUT1 (if available)

Paralogs for FUT1 Gene

Paralogs for FUT1 Gene

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

Variants for FUT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for FUT1 Gene

FUT1_HUMAN-P19526
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 Sequence Context AA Info Type
rs104894687 Pathogenic 48,750,791(-) GAAGC(A/T)CTCTG nc-transcript-variant, reference, missense
rs104894688 Pathogenic 48,750,456(-) CCTCC(C/T)AGGGC nc-transcript-variant, reference, stop-gained
rs150074056 Pathogenic 48,750,933(+) GGCAT(A/G)CATGG nc-transcript-variant, reference, missense
rs104894686 other 48,750,334(-) GCCTA(C/G/T)CTGGC nc-transcript-variant, reference, synonymous-codon
rs28934588 other 48,750,557(-) CTACC(G/T)CCGGC nc-transcript-variant, reference, missense

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)

Relevant External Links for FUT1 Gene

Human Gene Mutation Database (HGMD)
FUT1
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUT1

Disorders for FUT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FUT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cd45 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search FUT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FUT1

Genetic Association Database (GAD)
FUT1
Human Genome Epidemiology (HuGE) Navigator
FUT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FUT1
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 X.G. … Yan L.X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005) 3 22 46 64
  2. Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles. (PMID: 9122901) Wagner F.F. … Flegel W.A. (Transfusion 1997) 3 4 22 64
  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. (Biochem. Biophys. Res. Commun. 1997) 3 4 22 64
  4. Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria. (PMID: 19572973) Matzhold E.M. … Lanzer G. (Transfusion 2009) 3 22 64
  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 T.M. … Schwartz-Albiez R. (J. Cell. Physiol. 2008) 3 22 64

Products for FUT1 Gene

Sources for FUT1 Gene

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