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    FUT1 fucosyltransferase 1 (H blood group) [ Homo sapiens (human) ]

    Gene ID: 2523, updated on 20-Feb-2017
    Official Symbol
    FUT1provided by HGNC
    Official Full Name
    fucosyltransferase 1 (H blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4012
    See related
    Ensembl:ENSG00000174951 MIM:211100; Vega:OTTHUMG00000183325
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H; HH; HSC
    Summary
    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]
    Orthologs
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (48747826..48755390, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49251268..49258647, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Ras interacting protein 1 Neighboring gene izumo sperm-egg fusion 1 Neighboring gene fibroblast growth factor 21 Neighboring gene RNA, U6 small nuclear 317, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Bombay phenotype
    MedGen: C1859408 OMIM: 616754 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    NHGRI GWA Catalog
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    NHGRI GWA Catalog
    Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
    NHGRI GWA Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    NHGRI GWA Catalog
    Novel locus including FGF21 is associated with dietary macronutrient intake.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group; FUT1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: IZUMO1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    galactoside 2-alpha-L-fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    L-fucose catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    fucosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    galactoside 2-alpha-L-fucosyltransferase 1
    Names
    GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1
    alpha(1,2) fucosyltransferase 1
    alpha(1,2)FT 1
    blood group H alpha 2-fucosyltransferase
    galactoside 2-alpha-L-fucosyltransferase
    NP_000139.1
    NP_001316806.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007510.2 RefSeqGene

      Range
      5001..12380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000148.3NP_000139.1  galactoside 2-alpha-L-fucosyltransferase 1

      See identical proteins and their annotated locations for NP_000139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009002, D87935, M35531
      Consensus CDS
      CCDS12733.1
      UniProtKB/Swiss-Prot
      P19526
      UniProtKB/TrEMBL
      Q6IZA2
      Related
      ENSP00000312021, OTTHUMP00000271454, ENST00000310160, OTTHUMT00000466194
      Conserved Domains (1) summary
      pfam01531
      Location:37353
      Glyco_transf_11; Glycosyl transferase family 11
    2. NM_001329877.1NP_001316806.1  galactoside 2-alpha-L-fucosyltransferase 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009002, D87941
      UniProtKB/Swiss-Prot
      P19526
      UniProtKB/TrEMBL
      Q6IZA2
      Conserved Domains (1) summary
      pfam01531
      Location:37353
      Glyco_transf_11; Glycosyl transferase family 11

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      48747826..48755390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026552.1XP_016882041.1  galactoside 2-alpha-L-fucosyltransferase 1 isoform X1

      Conserved Domains (1) summary
      pfam01531
      Location:160476
      Glyco_transf_11; Glycosyl transferase family 11
    2. XM_017026553.1XP_016882042.1  galactoside 2-alpha-L-fucosyltransferase 1 isoform X2

      UniProtKB/Swiss-Prot
      P19526
      UniProtKB/TrEMBL
      Q6IZA2
      Conserved Domains (1) summary
      pfam01531
      Location:37353
      Glyco_transf_11; Glycosyl transferase family 11
    3. XM_006723127.2XP_006723190.1  galactoside 2-alpha-L-fucosyltransferase 1 isoform X1

      Conserved Domains (1) summary
      pfam01531
      Location:160476
      Glyco_transf_11; Glycosyl transferase family 11

    RNA

    1. XR_001753653.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      49253039..49260418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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