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Q10981

- FUT2_HUMAN

UniProt

Q10981 - FUT2_HUMAN

Protein

Galactoside 2-alpha-L-fucosyltransferase 2

Gene

FUT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      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. fucosylation Source: GOC
    3. L-fucose catabolic process Source: UniProtKB
    4. protein glycosylation Source: UniProtKB

    Keywords - Molecular functioni

    Blood group antigen, Glycosyltransferase, Transferase

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT11. Glycosyltransferase Family 11.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Galactoside 2-alpha-L-fucosyltransferase 2 (EC:2.4.1.69)
    Alternative name(s):
    Alpha(1,2)FT 2
    Fucosyltransferase 2
    GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2
    SE2
    Secretor blood group alpha-2-fucosyltransferase
    Secretor factor
    Short name:
    Se
    Gene namesi
    Name:FUT2
    Synonyms:SEC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:4013. FUT2.

    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. extracellular vesicular exosome Source: UniProt
    2. Golgi apparatus Source: UniProtKB
    3. Golgi cisterna membrane Source: UniProtKB-SubCell
    4. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi182100. gene+phenotype.
    612542. phenotype.
    PharmGKBiPA28429.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 343343Galactoside 2-alpha-L-fucosyltransferase 2PRO_0000012140Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi188 – 1881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi282 – 2821N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi308 – 3081N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ10981.
    PRIDEiQ10981.

    PTM databases

    PhosphoSiteiQ10981.

    Expressioni

    Tissue specificityi

    Small intestine, colon and lung.

    Gene expression databases

    ArrayExpressiQ10981.
    BgeeiQ10981.
    CleanExiHS_FUT2.
    GenevestigatoriQ10981.

    Organism-specific databases

    HPAiHPA014402.

    Interactioni

    Protein-protein interaction databases

    IntActiQ10981. 1 interaction.
    STRINGi9606.ENSP00000375748.

    Structurei

    3D structure databases

    ProteinModelPortaliQ10981.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1414CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini29 – 343315LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 2814Helical; 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.
    InParanoidiQ10981.
    KOiK00718.
    OMAiFSFPMAH.
    PhylomeDBiQ10981.
    TreeFamiTF315810.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative initiation. Align

    Isoform Long (identifier: Q10981-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLVVQMPFSF PMAHFILFVF TVSTIFHVQQ RLAKIQAMWE LPVQIPVLAS    50
    TSKALGPSQL RGMWTINAIG RLGNQMGEYA TLYALAKMNG RPAFIPAQMH 100
    STLAPIFRIT LPVLHSATAS RIPWQNYHLN DWMEEEYRHI PGEYVRFTGY 150
    PCSWTFYHHL RQEILQEFTL HDHVREEAQK FLRGLQVNGS RPGTFVGVHV 200
    RRGDYVHVMP KVWKGVVADR RYLQQALDWF RARYSSLIFV VTSNGMAWCR 250
    ENIDTSHGDV VFAGDGIEGS PAKDFALLTQ CNHTIMTIGT FGIWAAYLTG 300
    GDTIYLANYT LPDSPFLKIF KPEAAFLPEW TGIAADLSPL LKH 343
    Length:343
    Mass (Da):39,017
    Last modified:October 1, 1996 - v1
    Checksum:i12066D9CF175E13A
    GO
    Isoform Short (identifier: Q10981-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: Missing.

    Show »
    Length:332
    Mass (Da):37,740
    Checksum:i96DE97ED89807A8A
    GO

    Sequence cautioni

    The sequence BAA11638.1 differs from that shown. Reason: Erroneous initiation.

    Polymorphismi

    Three alleles have been identified in the Japanese population: Se1, Se2, and Sej.
    Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIMi:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251I → V Polymorphism found in Xhosa population. 2 Publications
    Corresponds to variant rs1800021 [ dbSNP | Ensembl ].
    VAR_003422
    Natural varianti138 – 1381R → C Polymorphism found in Xhosa population. 2 Publications
    Corresponds to variant rs1800022 [ dbSNP | Ensembl ].
    VAR_003423
    Natural varianti140 – 1401I → F in allele Sej; non-secretor phenotype. 3 Publications
    Corresponds to variant rs1047781 [ dbSNP | Ensembl ].
    VAR_003424
    Natural varianti172 – 1721D → N Polymorphism found in Xhosa population. 2 Publications
    Corresponds to variant rs1800025 [ dbSNP | Ensembl ].
    VAR_003425
    Natural varianti258 – 2581G → S.1 Publication
    Corresponds to variant rs602662 [ dbSNP | Ensembl ].
    VAR_022187

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1111Missing in isoform Short. CuratedVSP_018736Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U17894 Genomic DNA. Translation: AAC24453.1.
    D89327 Genomic DNA. Translation: BAA13944.1.
    D87942 mRNA. Translation: BAA21684.1.
    AY937240 Genomic DNA. Translation: AAX14047.1.
    BC121066 mRNA. No translation available.
    D82933 Genomic DNA. Translation: BAA11638.1. Different initiation.
    CCDSiCCDS33069.1. [Q10981-1]
    PIRiA56098.
    RefSeqiNP_000502.4. NM_000511.5. [Q10981-1]
    NP_001091107.1. NM_001097638.2. [Q10981-1]
    UniGeneiHs.579928.

    Genome annotation databases

    EnsembliENST00000391876; ENSP00000375748; ENSG00000176920. [Q10981-1]
    ENST00000425340; ENSP00000387498; ENSG00000176920. [Q10981-1]
    GeneIDi2524.
    KEGGihsa:2524.
    UCSCiuc002pke.4. human. [Q10981-1]

    Polymorphism databases

    DMDMi1730125.

    Keywords - Coding sequence diversityi

    Alternative initiation, Polymorphism

    Cross-referencesi

    Web resourcesi

    dbRBC/BGMUT

    Blood group antigen gene mutation database

    GGDB

    GlycoGene database

    SeattleSNPs
    Functional Glycomics Gateway - GTase

    Fucosyltransferase 2

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U17894 Genomic DNA. Translation: AAC24453.1 .
    D89327 Genomic DNA. Translation: BAA13944.1 .
    D87942 mRNA. Translation: BAA21684.1 .
    AY937240 Genomic DNA. Translation: AAX14047.1 .
    BC121066 mRNA. No translation available.
    D82933 Genomic DNA. Translation: BAA11638.1 . Different initiation.
    CCDSi CCDS33069.1. [Q10981-1 ]
    PIRi A56098.
    RefSeqi NP_000502.4. NM_000511.5. [Q10981-1 ]
    NP_001091107.1. NM_001097638.2. [Q10981-1 ]
    UniGenei Hs.579928.

    3D structure databases

    ProteinModelPortali Q10981.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q10981. 1 interaction.
    STRINGi 9606.ENSP00000375748.

    Protein family/group databases

    CAZyi GT11. Glycosyltransferase Family 11.

    PTM databases

    PhosphoSitei Q10981.

    Polymorphism databases

    DMDMi 1730125.

    Proteomic databases

    PaxDbi Q10981.
    PRIDEi Q10981.

    Protocols and materials databases

    DNASUi 2524.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000391876 ; ENSP00000375748 ; ENSG00000176920 . [Q10981-1 ]
    ENST00000425340 ; ENSP00000387498 ; ENSG00000176920 . [Q10981-1 ]
    GeneIDi 2524.
    KEGGi hsa:2524.
    UCSCi uc002pke.4. human. [Q10981-1 ]

    Organism-specific databases

    CTDi 2524.
    GeneCardsi GC19P049199.
    HGNCi HGNC:4013. FUT2.
    HPAi HPA014402.
    MIMi 182100. gene+phenotype.
    612542. phenotype.
    neXtProti NX_Q10981.
    PharmGKBi PA28429.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG17447.
    HOGENOMi HOG000261621.
    HOVERGENi HBG004338.
    InParanoidi Q10981.
    KOi K00718.
    OMAi FSFPMAH.
    PhylomeDBi Q10981.
    TreeFami TF315810.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    GeneWikii FUT2.
    GenomeRNAii 2524.
    NextBioi 9937.
    PROi Q10981.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q10981.
    Bgeei Q10981.
    CleanExi HS_FUT2.
    Genevestigatori Q10981.

    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. "Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype."
      Kelly R.J., Rouquier S., Giorgi D., Lennon G.G., Lowe J.B.
      J. Biol. Chem. 270:4640-4649(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
    2. "Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals."
      Kudo T., Iwasaki H., Nishihara S., Shinya N., Ando T., Narimatsu I., Narimatsu H.
      J. Biol. Chem. 271:9830-9837(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT), VARIANT PHE-140.
    3. "Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2)."
      Koda Y., Soejima M., Wang B., Kimura H.
      Eur. J. Biochem. 246:750-755(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT PHE-140.
    4. SeattleSNPs variation discovery resource
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-25; CYS-138; ASN-172 AND SER-258.
    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] (ISOFORM LONG), VARIANT PHE-140.
    6. "Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency."
      Koda Y., Soejima M., Liu Y., Kimura H.
      Am. J. Hum. Genet. 59:343-350(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-343.
    7. "Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa."
      Liu Y., Koda Y., Soejima M., Pang H., Schlaphoff T., du Toit E.D., Kimura H.
      Hum. Genet. 103:204-210(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-25; CYS-138 AND ASN-172.
    8. "Common variants of FUT2 are associated with plasma vitamin B12 levels."
      Hazra A., Kraft P., Selhub J., Giovannucci E.L., Thomas G., Hoover R.N., Chanock S.J., Hunter D.J.
      Nat. Genet. 40:1160-1162(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN B12QTL1.

    Entry informationi

    Entry nameiFUT2_HUMAN
    AccessioniPrimary (citable) accession number: Q10981
    Secondary accession number(s): Q0VAG5, Q14338, Q5D0G2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 138 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