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FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) [ Homo sapiens (human) ]

Gene ID: 2523, updated on 11-Sep-2014
Official Symbol
FUT1provided by HGNC
Official Full Name
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)provided by HGNC
Primary source
HGNC:HGNC:4012
See related
Ensembl:ENSG00000174951; HPRD:07186; 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
The protein encoded by this gene is 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 soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Jul 2008]
See FUT1 in Epigenomics, MapViewer
Location:
19q13.3
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene Ras interacting protein 1 Neighboring gene izumo sperm-egg fusion 1 Neighboring gene fibroblast growth factor 21 Neighboring gene branched chain amino-acid transaminase 2, mitochondrial

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
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

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
galactoside 2-alpha-L-fucosyltransferase 1
alpha(1,2)FT 1
2-alpha-L-fucosyltransferase
alpha (1,2) fucosyltransferase
alpha(1,2) fucosyltransferase 1
blood group H alpha 2-fucosyltransferase
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)
NP_000139.1

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_007510.1 

    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 proteins identical to NP_000139.1

    Status: REVIEWED

    Source sequence(s)
    AY923051, D87935
    Consensus CDS
    CCDS12733.1
    UniProtKB/Swiss-Prot
    P19526
    UniProtKB/TrEMBL
    Q6IZA2
    Related
    ENSP00000312021, OTTHUMP00000271454, ENST00000310160, OTTHUMT00000466194
    Conserved Domains (1) summary
    cd11301
    Location:87341
    Fut1_Fut2_like; Alpha-1,2-fucosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

mRNA and Protein(s)

  1. XM_006723127.1XP_006723190.1  

    Conserved Domains (1) summary
    cd11301
    Location:210464
    Fut1_Fut2_like; Alpha-1,2-fucosyltransferase

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    45630081..45637494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

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