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P19526

- FUT1_HUMAN

UniProt

P19526 - FUT1_HUMAN

Protein

Galactoside 2-alpha-L-fucosyltransferase 1

Gene

FUT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 1 (01 Feb 1991)
      Previous versions | rss
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    Functioni

    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.

    Catalytic activityi

    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.

    Pathwayi

    GO - Molecular functioni

    1. fucosyltransferase activity Source: ProtInc
    2. galactoside 2-alpha-L-fucosyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. L-fucose catabolic process Source: UniProtKB
    3. protein glycosylation Source: UniProtKB

    Keywords - Molecular functioni

    Blood 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:2.4.1.69)
    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
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:4012. FUT1.

    Subcellular locationi

    Golgi apparatusGolgi stack membrane; Single-pass type II membrane protein
    Note: Membrane-bound form in trans cisternae of Golgi.

    GO - Cellular componenti

    1. Golgi apparatus Source: UniProtKB
    2. Golgi cisterna membrane Source: UniProtKB-SubCell
    3. integral component of plasma membrane Source: ProtInc
    4. membrane Source: ProtInc

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi211100. gene+phenotype.
    PharmGKBiPA28428.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 365365Galactoside 2-alpha-L-fucosyltransferase 1PRO_0000149095Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi65 – 651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP19526.
    PRIDEiP19526.

    PTM databases

    PhosphoSiteiP19526.

    Expressioni

    Gene expression databases

    ArrayExpressiP19526.
    BgeeiP19526.
    CleanExiHS_FUT1.
    GenevestigatoriP19526.

    Interactioni

    Protein-protein interaction databases

    BioGridi108799. 1 interaction.
    STRINGi9606.ENSP00000312021.

    Structurei

    3D structure databases

    ProteinModelPortaliP19526.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 88CytoplasmicSequence Analysis
    Topological domaini26 – 365340LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2517Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 11 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG17447.
    HOGENOMiHOG000261621.
    HOVERGENiHBG004338.
    InParanoidiP19526.
    KOiK00718.
    OMAiFLHIHQD.
    OrthoDBiEOG7C5M8F.
    PhylomeDBiP19526.
    TreeFamiTF315810.

    Family and domain databases

    InterProiIPR002516. Glyco_trans_11.
    [Graphical view]
    PANTHERiPTHR11927. PTHR11927. 1 hit.
    PfamiPF01531. Glyco_transf_11. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P19526-1 [UniParc]FASTAAdd to Basket

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    MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP    50
    PVAIFCLPGT AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL 100
    ALAQLNGRRA FILPAMHAAL APVFRITLPV LAPEVDSRTP WRELQLHDWM 150
    SEEYADLRDP FLKLSGFPCS WTFFHHLREQ IRREFTLHDH LREEAQSVLG 200
    QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA YLRQAMDWFR 250
    ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC 300
    NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV 350
    GINADLSPLW TLAKP 365
    Length:365
    Mass (Da):41,251
    Last modified:February 1, 1991 - v1
    Checksum:i4F4442EC375C9D9E
    GO

    Polymorphismi

    Nonfunctional mutant of FUT1 are the cause of the H-Bombay blood group.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121A → V.1 Publication
    Corresponds to variant rs2071699 [ dbSNP | Ensembl ].
    VAR_022268
    Natural varianti148 – 1481D → Y in para-Bombay allele H4. 1 Publication
    Corresponds to variant rs56346833 [ dbSNP | Ensembl ].
    VAR_020536
    Natural varianti154 – 1541Y → C in Bombay H-. 1 Publication
    VAR_003417
    Natural varianti154 – 1541Y → H in para-Bombay allele H5. 1 Publication
    Corresponds to variant rs55678037 [ dbSNP | Ensembl ].
    VAR_020537
    Natural varianti164 – 1641L → H in para-Bombay. 1 Publication
    VAR_009708
    Natural varianti171 – 1711W → C in Bombay H-. 1 Publication
    VAR_003418
    Natural varianti241 – 2411Y → H in para-Bombay allele H3. 1 Publication
    Corresponds to variant rs55907428 [ dbSNP | Ensembl ].
    VAR_020538
    Natural varianti242 – 2421L → R in Bombay H-. 1 Publication
    Corresponds to variant rs28934588 [ dbSNP | Ensembl ].
    VAR_009709
    Natural varianti259 – 2591V → E in Bombay H-. 1 Publication
    VAR_003419
    Natural varianti315 – 3151A → V in Bombay H-. 1 Publication
    VAR_003420
    Natural varianti348 – 3481E → K in para-Bombay allele H5. 1 Publication
    Corresponds to variant rs56131151 [ dbSNP | Ensembl ].
    VAR_020539
    Natural varianti349 – 3491W → C in Bombay H-. 1 Publication
    VAR_003421

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.69747.

    Genome annotation databases

    EnsembliENST00000310160; ENSP00000312021; ENSG00000174951.
    GeneIDi2523.
    KEGGihsa:2523.
    UCSCiuc002pkk.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    dbRBC/BGMUT

    Blood group antigen gene mutation database

    GGDB

    GlycoGene database

    SeattleSNPs
    Functional Glycomics Gateway - GTase

    Fucosyltransferase 1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS12733.1.
    PIRi A36047.
    RefSeqi NP_000139.1. NM_000148.3.
    UniGenei Hs.69747.

    3D structure databases

    ProteinModelPortali P19526.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108799. 1 interaction.
    STRINGi 9606.ENSP00000312021.

    Protein family/group databases

    CAZyi GT11. Glycosyltransferase Family 11.

    PTM databases

    PhosphoSitei P19526.

    Proteomic databases

    PaxDbi P19526.
    PRIDEi P19526.

    Protocols and materials databases

    DNASUi 2523.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310160 ; ENSP00000312021 ; ENSG00000174951 .
    GeneIDi 2523.
    KEGGi hsa:2523.
    UCSCi uc002pkk.3. human.

    Organism-specific databases

    CTDi 2523.
    GeneCardsi GC19M049251.
    HGNCi HGNC:4012. FUT1.
    MIMi 211100. gene+phenotype.
    neXtProti NX_P19526.
    PharmGKBi PA28428.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG17447.
    HOGENOMi HOG000261621.
    HOVERGENi HBG004338.
    InParanoidi P19526.
    KOi K00718.
    OMAi FLHIHQD.
    OrthoDBi EOG7C5M8F.
    PhylomeDBi P19526.
    TreeFami TF315810.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BRENDAi 2.4.1.69. 2681.

    Miscellaneous databases

    GeneWikii FUT1.
    GenomeRNAii 2523.
    NextBioi 9933.
    PROi P19526.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P19526.
    Bgeei P19526.
    CleanExi HS_FUT1.
    Genevestigatori P19526.

    Family and domain databases

    InterProi IPR002516. Glyco_trans_11.
    [Graphical view ]
    PANTHERi PTHR11927. PTHR11927. 1 hit.
    Pfami PF01531. Glyco_transf_11. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen."
      Larsen R.D., Ernst L.K., Nair R.P., Lowe J.B.
      Proc. Natl. Acad. Sci. U.S.A. 87:6674-6678(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles."
      Wagner F.F., Flegel W.A.
      Transfusion 37:284-290(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS BOMBAY CYS-154; CYS-171; GLU-259; VAL-315 AND CYS-349.
    3. "Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals which inactivate H enzyme."
      Kaneko M., Nishihara S., Shinya N., Kudo T., Iwasaki H., Seno T., Okubo Y., Narimatsu H.
      Blood 90:839-849(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PARA-BOMBAY TYR-148; HIS-154; HIS-241 AND LYS-348.
    4. SeattleSNPs variation discovery resource
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-12.
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    6. "Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals."
      Kelly R.J., Ernst L.K., Larsen R.D., Bryant J.G., Robinson J.S., Lowe J.B.
      Proc. Natl. Acad. Sci. U.S.A. 91:5843-5847(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PARA-BOMBAY HIS-164.
    7. "Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system."
      Koda Y., Soejima M., Johnson P.H., Smart E., Kimura H.
      Biochem. Biophys. Res. Commun. 238:21-25(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOMBAY ARG-242.

    Entry informationi

    Entry nameiFUT1_HUMAN
    AccessioniPrimary (citable) accession number: P19526
    Secondary accession number(s): O14505, O14506, O14507
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1991
    Last sequence update: February 1, 1991
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 of the sequence. [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

    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.

    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

    External Data

    Dasty 3