EC 2.4.1.69
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1
Alpha(1,2)FT 1
Fucosyltransferase 1
Blood group H alpha 2-fucosyltransferase

Gene name

	Name:	FUT1
	Synonyms:	H, HSC

From

Homo sapiens (Human)

[TaxID: 9606]

Taxonomy

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Protein existence

2: Evidence at transcript level;

References

[1]	NUCLEOTIDE SEQUENCE [MRNA]. PubMed=2118655 [NCBI, ExPASy, EBI, Israel, Japan] Larsen R.D., Ernst L.K., Nair R.P., Lowe J.B.; "Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen."; Proc. Natl. Acad. Sci. U.S.A. 87:6674-6678(1990).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS BOMBAY CYS-154; CYS-171; GLU-259; VAL-315 AND CYS-349. DOI=10.1046/j.1537-2995.1997.37397240210.x; PubMed=9122901 [NCBI, ExPASy, EBI, Israel, Japan] Wagner F.F., Flegel W.A.; "Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles."; Transfusion 37:284-290(1997).
[3]	NUCLEOTIDE SEQUENCE, AND VARIANTS PARA-BOMBAY TYR-148; HIS-154; HIS-241 AND LYS-348. PubMed=9226185 [NCBI, ExPASy, EBI, Israel, Japan] Kaneko M., Nishihara S., Shinya N., Kudo T., Iwasaki H., Seno T., Okubo Y., Narimatsu H.; "Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals which inactivate H enzyme."; Blood 90:839-849(1997).
[4]	NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-12. SeattleSNPs program for genomic applications; Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
[5]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. TISSUE=Brain; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[6]	VARIANT PARA-BOMBAY HIS-164. PubMed=7912436 [NCBI, ExPASy, EBI, Israel, Japan] Kelly R.J., Ernst L.K., Larsen R.D., Bryant J.G., Robinson J.S., Lowe J.B.; "Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals."; Proc. Natl. Acad. Sci. U.S.A. 91:5843-5847(1994).
[7]	VARIANT BOMBAY ARG-242. DOI=10.1006/bbrc.1997.7232; PubMed=9299444 [NCBI, ExPASy, EBI, Israel, Japan] Koda Y., Soejima M., Johnson P.H., Smart E., Kimura H.; "Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system."; Biochem. Biophys. Res. Commun. 238:21-25(1997).

Comments

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=BGMUT; Note=Blood group antigen gene mutation database"; URL="http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/systems_info&system=hh";.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/fut1/";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

M35531; AAA52639.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
Z69587; CAA93435.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AB004861; BAA20558.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AB004862; BAA20559.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AB004863; BAA20560.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY923051; AAW82437.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074732; AAH74732.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

A36047; A36047.

NP_000139.1; -.

3D structure databases

ModBase

P19526.

PTM databases

PhosphoSite

P19526; -.

Organism-specific databases

HIX0040124; -.

HGNC:4012; FUT1.

211100; gene+phenotype. [NCBI / EBI]

PharmGKB

PA28428; -.

GeneCards

P19526.

Gene expression databases

ArrayExpress

P19526; -.

CleanEx

HS_FUT1; -.

GermOnline

ENSG00000174951; Homo sapiens.

Ontologies

GO:0005794;	Cellular component: Golgi apparatus (traceable author statement from UniProtKB).
GO:0005887;	Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0005624;	Cellular component: membrane fraction (traceable author statement from ProtInc).
GO:0008107;	Molecular function: galactoside 2-alpha-L-fucosyltransferase activity (traceable author statement from UniProtKB).
GO:0042355;	Biological process: L-fucose catabolic process (non-traceable author statement from UniProtKB).
GO:0006486;	Biological process: protein amino acid glycosylation (traceable author statement from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR002516; Glyco_trans_11.
Graphical view of domain structure.

PANTHER

PTHR11927; Glyco_trans_11; 1.

Pfam

PF01531; Glyco_transf_11; 1.
Pfam graphical view of domain structure.

BLOCKS

P19526.

Genome annotation databases

Ensembl

ENSG00000174951; Homo sapiens. [Contig view]

GeneID

2523; -.

KEGG

hsa:2523; -.

Phylogenomic databases

HOGENOM

P19526; -.

HOVERGEN

P19526; -.

Other

FUT1; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Blood group antigen; Glycoprotein; Glycosyltransferase; Golgi apparatus; Membrane; Polymorphism; Signal-anchor; Transferase; Transmembrane.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 365`	`365`	`Galactoside 2-alpha-L-fucosyltransferase 1.`	`PRO_0000149095`
`TOPO_DOM`	`1 8`	`8`	`Cytoplasmic (Potential).`
`TRANSMEM`	`9 25`	`17`	`Signal-anchor for type II membrane protein (Potential).`
`TOPO_DOM`	`26 365`	`340`	`Lumenal (Potential).`
`CARBOHYD`	`65 65`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`327 327`		`N-linked (GlcNAc...) (Potential).`
`VARIANT`	`12 12`	`1`	`A -> V (in dbSNP:rs2071699 [NCBI]).`	`VAR_022268`
`VARIANT`	`148 148`	`1`	`D -> Y (in para-Bombay allele H4).`	`VAR_020536`
`VARIANT`	`154 154`	`1`	`Y -> C (in Bombay H-).`	`VAR_003417`
`VARIANT`	`154 154`	`1`	`Y -> H (in para-Bombay allele H5).`	`VAR_020537`
`VARIANT`	`164 164`	`1`	`L -> H (in para-Bombay).`	`VAR_009708`
`VARIANT`	`171 171`	`1`	`W -> C (in Bombay H-).`	`VAR_003418`
`VARIANT`	`241 241`	`1`	`Y -> H (in para-Bombay allele H3).`	`VAR_020538`
`VARIANT`	`242 242`	`1`	`L -> R (in Bombay H-).`	`VAR_009709`
`VARIANT`	`259 259`	`1`	`V -> E (in Bombay H-).`	`VAR_003419`
`VARIANT`	`315 315`	`1`	`A -> V (in Bombay H-).`	`VAR_003420`
`VARIANT`	`348 348`	`1`	`E -> K (in para-Bombay allele H5).`	`VAR_020539`
`VARIANT`	`349 349`	`1`	`W -> C (in Bombay H-).`	`VAR_003421`

Sequence information

Length: 365 AA [This is the length of the unprocessed precursor]

Molecular weight: 41251 Da [This is the MW of the unprocessed precursor]

CRC64: 4F4442EC375C9D9E [This is a checksum on the sequence]

        10         20         30         40         50         60 
MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP PVAIFCLPGT 

        70         80         90        100        110        120 
AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL ALAQLNGRRA FILPAMHAAL 

       130        140        150        160        170        180 
APVFRITLPV LAPEVDSRTP WRELQLHDWM SEEYADLRDP FLKLSGFPCS WTFFHHLREQ 

       190        200        210        220        230        240 
IRREFTLHDH LREEAQSVLG QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA 

       250        260        270        280        290        300 
YLRQAMDWFR ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC 

       310        320        330        340        350        360 
NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV GINADLSPLW 


TLAKP

P19526 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools