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Protein

Galactoside 2-alpha-L-fucosyltransferase 1

Gene

FUT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

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.

Catalytic activityi

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.1 Publication

Kineticsi

  1. KM=2.4 mM for phenyl beta-D-galactoside1 Publication

    Pathwayi: protein glycosylation

    This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    GO - Molecular functioni

    • fucosyltransferase activity Source: ProtInc
    • galactoside 2-alpha-L-fucosyltransferase activity Source: UniProtKB

    GO - Biological processi

    • carbohydrate metabolic process Source: ProtInc
    • L-fucose catabolic process Source: UniProtKB
    • protein glycosylation Source: UniProtKB

    Keywordsi

    Molecular functionBlood group antigen, Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BRENDAi2.4.1.69. 2681.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT11. Glycosyltransferase Family 11.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Galactoside 2-alpha-L-fucosyltransferase 1 (EC:2.4.1.3441 Publication)
    Alternative name(s):
    Alpha(1,2)FT 1
    Blood group H alpha 2-fucosyltransferase
    Fucosyltransferase 1
    GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1
    Gene namesi
    Name:FUT1
    Synonyms:H, HSC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:4012. FUT1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini1 – 8CytoplasmicSequence analysis8
    Transmembranei9 – 25Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST17
    Topological domaini26 – 365LumenalSequence analysisAdd BLAST340

    GO - Cellular componenti

    • Golgi apparatus Source: UniProtKB
    • Golgi cisterna membrane Source: UniProtKB-SubCell
    • integral component of plasma membrane Source: ProtInc
    • membrane Source: ProtInc

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    DisGeNETi2523.
    MIMi616754. phenotype.
    OpenTargetsiENSG00000174951.
    PharmGKBiPA28428.

    Polymorphism and mutation databases

    BioMutaiFUT1.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001490951 – 365Galactoside 2-alpha-L-fucosyltransferase 1Add BLAST365

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi65N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    EPDiP19526.
    PaxDbiP19526.
    PeptideAtlasiP19526.
    PRIDEiP19526.

    PTM databases

    iPTMnetiP19526.
    PhosphoSitePlusiP19526.

    Expressioni

    Gene expression databases

    BgeeiENSG00000174951.
    CleanExiHS_FUT1.
    ExpressionAtlasiP19526. baseline and differential.
    GenevisibleiP19526. HS.

    Interactioni

    Protein-protein interaction databases

    BioGridi108799. 21 interactors.
    STRINGi9606.ENSP00000312021.

    Structurei

    3D structure databases

    ProteinModelPortaliP19526.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 11 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiENOG410IFKR. Eukaryota.
    ENOG4111HG3. LUCA.
    GeneTreeiENSGT00390000001450.
    HOGENOMiHOG000261621.
    HOVERGENiHBG004338.
    InParanoidiP19526.
    KOiK00718.
    OMAiFLHIHQD.
    OrthoDBiEOG091G0X2P.
    PhylomeDBiP19526.
    TreeFamiTF315810.

    Family and domain databases

    InterProiView protein in InterPro
    IPR002516. Glyco_trans_11.
    PANTHERiPTHR11927. PTHR11927. 1 hit.
    PfamiView protein in Pfam
    PF01531. Glyco_transf_11. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P19526-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP
    60 70 80 90 100
    PVAIFCLPGT AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL
    110 120 130 140 150
    ALAQLNGRRA FILPAMHAAL APVFRITLPV LAPEVDSRTP WRELQLHDWM
    160 170 180 190 200
    SEEYADLRDP FLKLSGFPCS WTFFHHLREQ IRREFTLHDH LREEAQSVLG
    210 220 230 240 250
    QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA YLRQAMDWFR
    260 270 280 290 300
    ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC
    310 320 330 340 350
    NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV
    360
    GINADLSPLW TLAKP
    Length:365
    Mass (Da):41,251
    Last modified:February 1, 1991 - v1
    Checksum:i4F4442EC375C9D9E
    GO

    Polymorphismi

    Genetic variations in FUT1 define the H blood group and are responsible for the Bombay and para-Bombay phenotypes [MIMi:616754]. Erythrocytes from individuals with the Bombay and para-Bombay blood group phenotypes are deficient in H antigens.4 Publications

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02226812A → V1 PublicationCorresponds to variant dbSNP:rs2071699Ensembl.1
    Natural variantiVAR_020536148D → Y Found in individuals with para-Bombay phenotype; allele H4. 1 PublicationCorresponds to variant dbSNP:rs747442925Ensembl.1
    Natural variantiVAR_003417154Y → C Found in individuals with Bombay phenotype. 1 Publication1
    Natural variantiVAR_020537154Y → H Found in individuals with para-Bombay phenotype; allele H5. 1 PublicationCorresponds to variant dbSNP:rs757349699Ensembl.1
    Natural variantiVAR_009708164L → H Found in individuals with para-Bombay phenotype. 1 PublicationCorresponds to variant dbSNP:rs104894687Ensembl.1
    Natural variantiVAR_003418171W → C Found in individuals with Bombay phenotype. 1 Publication1
    Natural variantiVAR_020538241Y → H Found in individuals with para-Bombay phenotype; allele H3. 1 PublicationCorresponds to variant dbSNP:rs765114567Ensembl.1
    Natural variantiVAR_009709242L → R Found in individuals with Bombay phenotype. 1 PublicationCorresponds to variant dbSNP:rs28934588Ensembl.1
    Natural variantiVAR_003419259V → E Found in individuals with Bombay phenotype. 1 Publication1
    Natural variantiVAR_003420315A → V Found in individuals with Bombay phenotype. 1 Publication1
    Natural variantiVAR_020539348E → K Found in individuals with para-Bombay phenotype; allele H5. 1 PublicationCorresponds to variant dbSNP:rs56131151Ensembl.1
    Natural variantiVAR_003421349W → C Found in individuals with Bombay phenotype. 1 Publication1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    M35531 mRNA. Translation: AAA52639.1.
    Z69587 Genomic DNA. Translation: CAA93435.1.
    AB004861 Genomic DNA. Translation: BAA20558.1.
    AB004862 Genomic DNA. Translation: BAA20559.1.
    AB004863 Genomic DNA. Translation: BAA20560.1.
    AY923051 Genomic DNA. Translation: AAW82437.1.
    BC074732 mRNA. Translation: AAH74732.1.
    CCDSiCCDS12733.1.
    PIRiA36047.
    RefSeqiNP_000139.1. NM_000148.3.
    NP_001316806.1. NM_001329877.1.
    XP_016882042.1. XM_017026553.1.
    UniGeneiHs.69747.

    Genome annotation databases

    EnsembliENST00000310160; ENSP00000312021; ENSG00000174951.
    GeneIDi2523.
    KEGGihsa:2523.

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Entry informationi

    Entry nameiFUT1_HUMAN
    AccessioniPrimary (citable) accession number: P19526
    Secondary accession number(s): O14505, O14506, O14507
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
    Last sequence update: February 1, 1991
    Last modified: August 30, 2017
    This is version 160 of the entry and version 1 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Blood group antigen proteins
      Nomenclature of blood group antigens and list of entries
    2. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. SIMILARITY comments
      Index of protein domains and families