Galactoside 2-alpha-L-fucosyltransferase 1

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Reviewed, UniProtKB/Swiss-Prot P19526 (FUT1_HUMAN)

Last modified June 16, 2009. Version 95. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Galactoside 2-alpha-L-fucosyltransferase 1
    EC=2.4.1.69
Alternative name(s):
    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 names

Name:	FUT1
Synonyms:	H, HSC

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	365 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

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General annotation (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.
Sequence similarities	Belongs to the glycosyltransferase 11 family.

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Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Blood group antigen Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	L-fucose catabolic process Non-traceable author statement. Source: UniProtKB protein amino acid glycosylation Traceable author statement. Source: UniProtKB
Cellular component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc membrane fraction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	galactoside 2-alpha-L-fucosyltransferase activity Traceable author statement. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 365

365

Galactoside 2-alpha-L-fucosyltransferase 1

PRO_0000149095

Regions

Topological domain

1 – 8

Cytoplasmic Potential

Transmembrane

9 – 25

Signal-anchor for type II membrane protein Potential

Topological domain

26 – 365

340

Lumenal Potential

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

327

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

A → V: dbSNP rs2071699. Ref.4

VAR_022268

Natural variant

148

D → Y in para-Bombay allele H4. Ref.3

VAR_020536

Natural variant

154

Y → C in Bombay H-.

VAR_003417

Natural variant

154

Y → H in para-Bombay allele H5. Ref.3 Ref.2

VAR_020537

Natural variant

164

L → H in para-Bombay. Ref.6

VAR_009708

Natural variant

171

W → C in Bombay H-.

VAR_003418

Natural variant

241

Y → H in para-Bombay allele H3. Ref.3

VAR_020538

Natural variant

242

L → R in Bombay H-.

VAR_009709

Natural variant

259

V → E in Bombay H-.

VAR_003419

Natural variant

315

A → V in Bombay H-.

VAR_003420

Natural variant

348

E → K in para-Bombay allele H5. Ref.3

VAR_020539

Natural variant

349

W → C in Bombay H-.

VAR_003421

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Sequences

Sequence

Length

Mass (Da)

Tools

P19526-1 [UniParc].

Last modified February 1, 1991. Version 1.
Checksum: 4F4442EC375C9D9E
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FASTA

365

41,251

        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

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Larsen R.D., Ernst L.K., Nair R.P., Lowe J.B. Proc. Natl. Acad. Sci. U.S.A. 87:6674-6678(1990) [PubMed: 2118655] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles." Wagner F.F., Flegel W.A. Transfusion 37:284-290(1997) [PubMed: 9122901] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS BOMBAY CYS-154; CYS-171; GLU-259; VAL-315 AND CYS-349.
[3]	"Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals which inactivate H enzyme." Kaneko M., Nishihara S., Shinya N., Kudo T., Iwasaki H., Seno T., Okubo Y., Narimatsu H. Blood 90:839-849(1997) [PubMed: 9226185] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PARA-BOMBAY TYR-148; HIS-154; HIS-241 AND LYS-348.
[4]	SeattleSNPs variation discovery resource Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-12.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals." Kelly R.J., Ernst L.K., Larsen R.D., Bryant J.G., Robinson J.S., Lowe J.B. Proc. Natl. Acad. Sci. U.S.A. 91:5843-5847(1994) [PubMed: 7912436] [Abstract] Cited for: VARIANT PARA-BOMBAY HIS-164.
[7]	"Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system." Koda Y., Soejima M., Johnson P.H., Smart E., Kimura H. Biochem. Biophys. Res. Commun. 238:21-25(1997) [PubMed: 9299444] [Abstract] Cited for: VARIANT BOMBAY ARG-242.
+	Additional computationally mapped references.

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Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

Fucosyltransferase 1

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Cross-references

Sequence databases
	M35531 mRNA. Translation: AAA52639.1. Z69587 Genomic DNA. Translation: CAA93435.1. AB004861 Genomic DNA. Translation: BAA20558.1. AB004862 Genomic DNA. Translation: BAA20559.1. AB004863 Genomic DNA. Translation: BAA20560.1. AY923051 Genomic DNA. Translation: AAW82437.1. BC074732 mRNA. Translation: AAH74732.1.
IPI	IPI00019466.
PIR	A36047.
RefSeq	NP_000139.1.
UniGene	Hs.69747
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT11. Glycosyltransferase Family 11.
PTM databases
PhosphoSite	P19526.
Proteomic databases
PRIDE	P19526.
Genome annotation databases
Ensembl	ENSG00000174951. Homo sapiens. [Contig view]
GeneID	2523.
KEGG	hsa:2523.
Organism-specific databases
GeneCards	GC19M053943.
H-InvDB	HIX0040124.
HGNC	HGNC:4012. FUT1.
MIM	211100. gene+phenotype.
PharmGKB	PA28428.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P19526.
HOVERGEN	P19526.
OMA	P19526. MDWFRAR.
Enzyme and pathway databases
BRENDA	2.4.1.69. 247.
Gene expression databases
ArrayExpress	P19526.
Bgee	P19526.
CleanEx	HS_FUT1.
GermOnline	ENSG00000174951. Homo sapiens.
Family and domain databases
InterPro	IPR002516. Glyco_trans_11. [Graphical view]
PANTHER	PTHR11927. Glyco_trans_11. 1 hit.
Pfam	PF01531. Glyco_transf_11. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	9933.
SOURCE	Search...

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Entry information

Entry name

FUT1_HUMAN

Accession

Primary (citable) accession number: P19526
Secondary accession number(s): O14505, O14506, O14507

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1991
Last sequence update:	February 1, 1991
Last modified:	June 16, 2009
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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