Human Gene FUT1 (uc002pkk.3)
  Description: Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.
RefSeq Summary (NM_000148): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:49,251,268-49,258,647 Size: 7,380 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr19:49,253,441-49,254,538 Size: 1,098 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,251,268-49,258,647)mRNA (may differ from genome)Protein (365 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FUT1_HUMAN
DESCRIPTION: RecName: Full=Galactoside 2-alpha-L-fucosyltransferase 1; EC=2.4.1.69; AltName: Full=Alpha(1,2)FT 1; AltName: Full=Blood group H alpha 2-fucosyltransferase; AltName: Full=Fucosyltransferase 1; AltName: Full=GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1;
FUNCTION: Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values.
CATALYTIC ACTIVITY: GDP-beta-L-fucose + beta-D-galactosyl-(1->3)- N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta- D-glucosyl-(1<->1)-ceramide = GDP + alpha-L-fucosyl-(1->2)-beta-D- galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D- galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.
POLYMORPHISM: Nonfunctional mutant of FUT1 are the cause of the H- Bombay blood group.
MISCELLANEOUS: There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.
SIMILARITY: Belongs to the glycosyltransferase 11 family.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=hh";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=FUT1";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/fut1/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Fucosyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_598";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FUT1
CDC HuGE Published Literature: FUT1

-  MalaCards Disease Associations
  MalaCards Gene Search: FUT1
Diseases sorted by gene-association score: cd45 deficiency (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.12 RPKM in Stomach
Total median expression: 70.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -505.27975-0.518 Picture PostScript Text
3' UTR -829.352173-0.382 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002516 - Glyco_trans_11

Pfam Domains:
PF01531 - Glycosyl transferase family 11

ModBase Predicted Comparative 3D Structure on P19526
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008107 galactoside 2-alpha-L-fucosyltransferase activity
GO:0008417 fucosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0036065 fucosylation
GO:0042355 L-fucose catabolic process

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane


-  Descriptions from all associated GenBank mRNAs
  M35531 - Human GDP-L-fucose:beta-D-galactoside 2-alpha-l-fucosyltransferase mRNA, complete cds.
JD189641 - Sequence 170665 from Patent EP1572962.
JD459870 - Sequence 440894 from Patent EP1572962.
JD307415 - Sequence 288439 from Patent EP1572962.
JD272373 - Sequence 253397 from Patent EP1572962.
JD307647 - Sequence 288671 from Patent EP1572962.
JD493149 - Sequence 474173 from Patent EP1572962.
JD424641 - Sequence 405665 from Patent EP1572962.
JD120152 - Sequence 101176 from Patent EP1572962.
JD333463 - Sequence 314487 from Patent EP1572962.
JD507811 - Sequence 488835 from Patent EP1572962.
JD509529 - Sequence 490553 from Patent EP1572962.
JD102958 - Sequence 83982 from Patent EP1572962.
JD453885 - Sequence 434909 from Patent EP1572962.
JD068873 - Sequence 49897 from Patent EP1572962.
JD480811 - Sequence 461835 from Patent EP1572962.
JD389011 - Sequence 370035 from Patent EP1572962.
JD457568 - Sequence 438592 from Patent EP1572962.
JD270544 - Sequence 251568 from Patent EP1572962.
JD293522 - Sequence 274546 from Patent EP1572962.
JD330950 - Sequence 311974 from Patent EP1572962.
JD239947 - Sequence 220971 from Patent EP1572962.
JD346665 - Sequence 327689 from Patent EP1572962.
JD415333 - Sequence 396357 from Patent EP1572962.
JD346664 - Sequence 327688 from Patent EP1572962.
JD476876 - Sequence 457900 from Patent EP1572962.
JD115173 - Sequence 96197 from Patent EP1572962.
JD256616 - Sequence 237640 from Patent EP1572962.
JD249218 - Sequence 230242 from Patent EP1572962.
JD331098 - Sequence 312122 from Patent EP1572962.
JD242763 - Sequence 223787 from Patent EP1572962.
JD409329 - Sequence 390353 from Patent EP1572962.
JD508281 - Sequence 489305 from Patent EP1572962.
JD152894 - Sequence 133918 from Patent EP1572962.
JD198276 - Sequence 179300 from Patent EP1572962.
JD118834 - Sequence 99858 from Patent EP1572962.
JD388586 - Sequence 369610 from Patent EP1572962.
JD457271 - Sequence 438295 from Patent EP1572962.
JD225169 - Sequence 206193 from Patent EP1572962.
JD280646 - Sequence 261670 from Patent EP1572962.
JD160460 - Sequence 141484 from Patent EP1572962.
JD527462 - Sequence 508486 from Patent EP1572962.
JD080584 - Sequence 61608 from Patent EP1572962.
JD266146 - Sequence 247170 from Patent EP1572962.
JD356855 - Sequence 337879 from Patent EP1572962.
JD346680 - Sequence 327704 from Patent EP1572962.
JD466378 - Sequence 447402 from Patent EP1572962.
JD425263 - Sequence 406287 from Patent EP1572962.
JD414971 - Sequence 395995 from Patent EP1572962.
JD397132 - Sequence 378156 from Patent EP1572962.
JD312193 - Sequence 293217 from Patent EP1572962.
JD476790 - Sequence 457814 from Patent EP1572962.
JD264891 - Sequence 245915 from Patent EP1572962.
JD333134 - Sequence 314158 from Patent EP1572962.
JD398622 - Sequence 379646 from Patent EP1572962.
JD070413 - Sequence 51437 from Patent EP1572962.
JD422113 - Sequence 403137 from Patent EP1572962.
JD326568 - Sequence 307592 from Patent EP1572962.
JD367526 - Sequence 348550 from Patent EP1572962.
JD463174 - Sequence 444198 from Patent EP1572962.
JD213210 - Sequence 194234 from Patent EP1572962.
JD542961 - Sequence 523985 from Patent EP1572962.
JD560978 - Sequence 542002 from Patent EP1572962.
JD165267 - Sequence 146291 from Patent EP1572962.
JD262114 - Sequence 243138 from Patent EP1572962.
JD087107 - Sequence 68131 from Patent EP1572962.
JD566951 - Sequence 547975 from Patent EP1572962.
JD235952 - Sequence 216976 from Patent EP1572962.
JD235745 - Sequence 216769 from Patent EP1572962.
JD301697 - Sequence 282721 from Patent EP1572962.
JD331366 - Sequence 312390 from Patent EP1572962.
JD229200 - Sequence 210224 from Patent EP1572962.
JD454854 - Sequence 435878 from Patent EP1572962.
JD276471 - Sequence 257495 from Patent EP1572962.
JD298185 - Sequence 279209 from Patent EP1572962.
BC074732 - Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group), mRNA (cDNA clone MGC:103804 IMAGE:30915185), complete cds.
KJ891203 - Synthetic construct Homo sapiens clone ccsbBroadEn_00597 FUT1 gene, encodes complete protein.
KR712067 - Synthetic construct Homo sapiens clone CCSBHm_00035322 FUT1 (FUT1) mRNA, encodes complete protein.
KR712068 - Synthetic construct Homo sapiens clone CCSBHm_00035331 FUT1 (FUT1) mRNA, encodes complete protein.
D87938 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.
D87939 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.
D87940 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.
D87941 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.
D87935 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.
D87936 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.
D87937 - Homo sapiens mRNA for alpha(1,2)fucosyltransferase, 5'UTR partial sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00601 - Glycosphingolipid biosynthesis - lacto and neolacto series
hsa00603 - Glycosphingolipid biosynthesis - globo series
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: FUT1_HUMAN, H, HSC, NM_000148, NP_000139, O14505, O14506, O14507, P19526
UCSC ID: uc002pkk.3
RefSeq Accession: NM_000148
Protein: P19526 (aka FUT1_HUMAN)
CCDS: CCDS12733.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000148.3
exon count: 4CDS single in 3' UTR: no RNA size: 4246
ORF size: 1098CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2440.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.