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

    Gene ID: 2523, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:4012
    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]
    Expression
    Broad expression in stomach (RPKM 2.7), pancreas (RPKM 2.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FUT1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48748011..48755358, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51742440..51749823, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49251268..49258615, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Ras interacting protein 1 Neighboring gene uncharacterized LOC124904737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49242120-49242659 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49249661-49250446 Neighboring gene izumo sperm-oocyte fusion 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49250447-49251232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49254255-49254894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49256100-49256686 Neighboring gene FGF21/FUT1 promoter region Neighboring gene fibroblast growth factor 21 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 4 Neighboring gene RNA, U6 small nuclear 317, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (22 hits/1268 screens)

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: IZUMO1

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in L-fucose catabolic process PubMed 
    involved_in carbohydrate metabolic process PubMed 
    involved_in fucosylation  
    involved_in fucosylation  
    involved_in glycosphingolipid biosynthetic process  
    involved_in olfactory bulb development  
    involved_in oligosaccharide biosynthetic process  
    involved_in positive regulation of cell-matrix adhesion PubMed 
    involved_in positive regulation of endothelial cell migration PubMed 
    involved_in positive regulation of endothelial cell-matrix adhesion via fibronectin PubMed 
    involved_in positive regulation of sprouting angiogenesis PubMed 
    involved_in protein glycosylation  
    involved_in protein glycosylation  
    involved_in protein glycosylation  
    involved_in protein glycosylation PubMed 
    involved_in regulation of cell adhesion  
    involved_in regulation of endothelial cell proliferation  
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in Golgi cisterna membrane  
    located_in Golgi membrane  
    located_in membrane PubMed 
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    galactoside alpha-(1,2)-fucosyltransferase 1
    Names
    GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1
    H antigen
    H glycosyltransferase
    H glycosytransferase
    a-1, 2 fucosyltransferase (H antigen)
    alpha(1,2) fucosyltransferase 1
    alpha(1,2)FT 1
    blood group H alpha 2-fucosyltransferase
    galactoside 2-L-fucosyltransferase enzyme
    galactoside 2-alpha-L-fucosyltransferase
    nonfunctional fucosyltransferase 1
    type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1
    type 2 galactoside alpha-(1,2)-fucosyltransferase FUT1
    NP_000139.1
    NP_001316806.1
    NP_001371288.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5033..12380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_810

    mRNA and Protein(s)

    1. NM_000148.4 → NP_000139.1  galactoside alpha-(1,2)-fucosyltransferase 1

      See identical proteins and their annotated locations for NP_000139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC009002, D87935, M35531
      Consensus CDS
      CCDS12733.1
      UniProtKB/Swiss-Prot
      O14505, O14506, O14507, P19526
      UniProtKB/TrEMBL
      A0A0A0QYD1, A0A1Z1GDY1, A0A385GJ30, A0A7L9R2Q2, A0A7S8F8B8, A0A7T6AP85, B3GVB9, C0L7J0, F5BH05, I7C6Y9, Q4JGW8, Q6IZA2, Q8IVN2, Q8WXB6
      Conserved Domains (1) summary
      pfam01531
      Location:37 → 353
      Glyco_transf_11; Glycosyl transferase family 11
    2. NM_001329877.1 → NP_001316806.1  galactoside alpha-(1,2)-fucosyltransferase 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC009002, D87941
      Consensus CDS
      CCDS12733.1
      UniProtKB/Swiss-Prot
      O14505, O14506, O14507, P19526
      UniProtKB/TrEMBL
      A0A0A0QYD1, A0A1Z1GDY1, A0A385GJ30, A0A7L9R2Q2, A0A7S8F8B8, A0A7T6AP85, B3GVB9, C0L7J0, F5BH05, I7C6Y9, Q4JGW8, Q6IZA2, Q8IVN2, Q8WXB6
      Conserved Domains (1) summary
      pfam01531
      Location:37 → 353
      Glyco_transf_11; Glycosyl transferase family 11
    3. NM_001384359.1 → NP_001371288.1  galactoside alpha-(1,2)-fucosyltransferase 1

      Status: REVIEWED

      Description
      Transcript Variant: his variant (3) contains a shorter 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC009002
      Consensus CDS
      CCDS12733.1
      UniProtKB/Swiss-Prot
      O14505, O14506, O14507, P19526
      UniProtKB/TrEMBL
      A0A0A0QYD1, A0A1Z1GDY1, A0A385GJ30, A0A7L9R2Q2, A0A7S8F8B8, A0A7T6AP85, B3GVB9, C0L7J0, F5BH05, I7C6Y9, Q4JGW8, Q6IZA2, Q8IVN2, Q8WXB6
      Related
      ENSP00000494643.1, ENST00000645652.2
      Conserved Domains (1) summary
      pfam01531
      Location:37 → 353
      Glyco_transf_11; Glycosyl transferase family 11

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48748011..48755358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51742440..51749823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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