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

    Gene ID: 2523, updated on 3-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. [Effect of α -1,2 fucosyltransferase gene 682A> G and 547_552delAG mutations on the activity of fucosyltransferase]. Tao S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014 Oct. PMID 25297588
    2. Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. Kelly RJ, et al. Proc Natl Acad Sci U S A, 1994 Jun 21. PMID 7912436, Free PMC Article
    3. A new genetic model proposing that the Se gene is a structural gene closely linked to the H gene. Oriol R, et al. Am J Hum Genet, 1981 May. PMID 7246545, Free PMC Article
    4. Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual. Wang L, et al. Transfusion, 2017 Jan. PMID 28026021
    5. FUT1 mutations responsible for the H-deficient phenotype in the Polish population, including the first example of an abolished start codon. Michalewska B, et al. Blood Transfus, 2018 Jan. PMID 27893357, Free PMC Article

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Terminal alpha1,2-fucosylation of glycosphingolipids by FUT1 is a key regulator in early cell-fate decisions.
      Title: Terminal α1,2-fucosylation of glycosphingolipids by FUT1 is a key regulator in early cell-fate decisions.
    2. Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran.
      Title: Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran.
    3. FUT1-mediated terminal fucosylation acts as a new target to attenuate renal fibrosis.
      Title: FUT1-mediated terminal fucosylation acts as a new target to attenuate renal fibrosis.
    4. Molecular Genetic Analysis of Para-Bombay Phenotype in Chinese: Identification of a Novel FUT1 Allele.
      Title: Molecular Genetic Analysis of Para-Bombay Phenotype in Chinese: Identification of a Novel FUT1 Allele.
    5. Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.
      Title: Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.
    6. [Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype].
      Title: [Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype].
    7. Glucose deprivation-induced aberrant FUT1-mediated fucosylation drives cancer stemness in hepatocellular carcinoma.
      Title: Glucose deprivation-induced aberrant FUT1-mediated fucosylation drives cancer stemness in hepatocellular carcinoma.
    8. miR-5193, regulated by FUT1, suppresses proliferation and migration of ovarian cancer cells by targeting TRIM11.
      Title: miR-5193, regulated by FUT1, suppresses proliferation and migration of ovarian cancer cells by targeting TRIM11.
    9. [Serological Identification and FUT1 Gene Mutation Analysis of 8 Individuals with Para-Bombay Phenotypes in Guangxi].
      Title: [Serological Identification and FUT1 Gene Mutation Analysis of 8 Individuals with Para-Bombay Phenotypes in Guangxi].
    10. Two novel FUT1 alleles that cause para-Bombay phenotype in a Chinese individual.
      Title: Two novel FUT1 alleles that cause para-Bombay phenotype in a Chinese individual.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: IZUMO1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-(1,2)-fucosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables galactoside 2-alpha-L-fucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables galactoside 2-alpha-L-fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-fucose catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in fucosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fucosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in olfactory bulb development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell-matrix adhesion via fibronectin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of endothelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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)

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    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19526.1 GenPept UniProtKB/Swiss-Prot:P19526

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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