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

Gene ID: 2523, updated on 21-Apr-2019

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
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

Genomic context

See FUT1 in Genome Data Viewer
Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (48748011..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 FGF21/FUT1 promoter region Neighboring gene fibroblast growth factor 21 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000312021.3, ENST00000310160.7
    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
    Consensus CDS
    CCDS12733.1
    UniProtKB/Swiss-Prot
    P19526
    UniProtKB/TrEMBL
    Q6IZA2
    Related
    ENSP00000494643.1, ENST00000645652.1
    Conserved Domains (1) summary
    pfam01531
    Location:37353
    Glyco_transf_11; Glycosyl transferase family 11

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    48748011..48755390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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