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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
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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. [Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population]. Xu XG, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Dec. PMID 16331565
  2. The presence of at least two different H-blood-group-related beta-D-gal alpha-2-L-fucosyltransferases in human serum and the genetics of blood group H substances. Le Pendu J, et al. Am J Hum Genet, 1985 Jul. PMID 9556663, Free PMC Article
  3. Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual. Wang L, et al. Transfusion, 2017 Jan. PMID 28026021
  4. 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
  5. Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified. Yip SP, et al. Vox Sang, 2002 Oct. PMID 12366770

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

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