Reviewed, UniProtKB/Swiss-Prot Q10981 (FUT2_HUMAN)

Names and origin

Protein names

Recommended name:
    Galactoside 2-alpha-L-fucosyltransferase 2
    EC=2.4.1.69
Alternative name(s):
    GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2
    Alpha(1,2)FT 2
    Fucosyltransferase 2
    Secretor blood group alpha-2-fucosyltransferase
    Secretor factor
    SE2
      Short name=Se

Gene names

Name:	FUT2
Synonyms:	SEC2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	343 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

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.
Tissue specificity	Small intestine, colon and lung.
Polymorphism	Three alleles have been identified in Japanese: Se1, Se2, and Sej.
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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative initiation 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	integral to Golgi membrane Non-traceable author statement. Source: UniProtKB
Molecular function	galactoside 2-alpha-L-fucosyltransferase activity Traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative initiation. [Align] [Select]

Isoform Long (identifier: Q10981-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform Short (identifier: Q10981-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 343	343	Galactoside 2-alpha-L-fucosyltransferase 2		PRO_0000012140
Regions
	Topological domain	1 – 14	14	Cytoplasmic Potential
	Transmembrane	15 – 28	14	Signal-anchor for type II membrane protein Potential
	Topological domain	29 – 343	315	Lumenal Potential
Amino acid modifications
	Glycosylation	188	1	N-linked (GlcNAc...) Potential
	Glycosylation	282	1	N-linked (GlcNAc...) Potential
	Glycosylation	308	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 11	11	Missing in isoform Short.		VSP_018736
	Natural variant	25	1	I → V Polymorphism found in Xhosa population. dbSNP rs1800021.		VAR_003422
	Natural variant	138	1	R → C Polymorphism found in Xhosa population. dbSNP rs1800022.		VAR_003423
	Natural variant	140	1	I → F in allele Sej; non-secretor phenotype.		VAR_003424
	Natural variant	172	1	D → N Polymorphism found in Xhosa population. dbSNP rs1800025.		VAR_003425
	Natural variant	258	1	G → S		VAR_022187

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 12066D9CF175E13A	FASTA	343	39,017
	10 20 30 40 50 60 MLVVQMPFSF PMAHFILFVF TVSTIFHVQQ RLAKIQAMWE LPVQIPVLAS TSKALGPSQL 70 80 90 100 110 120 RGMWTINAIG RLGNQMGEYA TLYALAKMNG RPAFIPAQMH STLAPIFRIT LPVLHSATAS 130 140 150 160 170 180 RIPWQNYHLN DWMEEEYRHI PGEYVRFTGY PCSWTFYHHL RQEILQEFTL HDHVREEAQK 190 200 210 220 230 240 FLRGLQVNGS RPGTFVGVHV RRGDYVHVMP KVWKGVVADR RYLQQALDWF RARYSSLIFV 250 260 270 280 290 300 VTSNGMAWCR ENIDTSHGDV VFAGDGIEGS PAKDFALLTQ CNHTIMTIGT FGIWAAYLTG 310 320 330 340 GDTIYLANYT LPDSPFLKIF KPEAAFLPEW TGIAADLSPL LKH
	Isoform Short [UniParc]. Checksum: 96DE97ED89807A8A		332	37,740
	10 20 30 40 50 60 MAHFILFVFT VSTIFHVQQR LAKIQAMWEL PVQIPVLAST SKALGPSQLR GMWTINAIGR 70 80 90 100 110 120 LGNQMGEYAT LYALAKMNGR PAFIPAQMHS TLAPIFRITL PVLHSATASR IPWQNYHLND 130 140 150 160 170 180 WMEEEYRHIP GEYVRFTGYP CSWTFYHHLR QEILQEFTLH DHVREEAQKF LRGLQVNGSR 190 200 210 220 230 240 PGTFVGVHVR RGDYVHVMPK VWKGVVADRR YLQQALDWFR ARYSSLIFVV TSNGMAWCRE 250 260 270 280 290 300 NIDTSHGDVV FAGDGIEGSP AKDFALLTQC NHTIMTIGTF GIWAAYLTGG DTIYLANYTL 310 320 330 PDSPFLKIFK PEAAFLPEWT GIAADLSPLL KH

References

[1]	"Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype." Kelly R.J., Rouquier S., Giorgi D., Lennon G.G., Lowe J.B. J. Biol. Chem. 270:4640-4649(1995) [PubMed: 7876235] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
[2]	"Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals." Kudo T., Iwasaki H., Nishihara S., Shinya N., Ando T., Narimatsu I., Narimatsu H. J. Biol. Chem. 271:9830-9837(1996) [PubMed: 8621666] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT), VARIANT PHE-140.
[3]	"Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2)." Koda Y., Soejima M., Wang B., Kimura H. Eur. J. Biochem. 246:750-755(1997) [PubMed: 9219535] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT PHE-140.
[4]	SeattleSNPs program for genomic applications Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-25; CYS-138; ASN-172 AND SER-258.
[5]	"Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency." Koda Y., Soejima M., Liu Y., Kimura H. Am. J. Hum. Genet. 59:343-350(1996) [PubMed: 8755920] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-343.
[6]	"Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa." Liu Y., Koda Y., Soejima M., Pang H., Schlaphoff T., du Toit E.D., Kimura H. Hum. Genet. 103:204-210(1998) [PubMed: 9760207] [Abstract] Cited for: VARIANTS VAL-25; CYS-138 AND ASN-172.
+	Additional computationally mapped references.

Web resources

BGMUT

Blood group antigen gene mutation database"

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

Fucosyltransferase 2

Cross-references

Sequence databases
EMBLGenBankDDBJ	U17894 Genomic DNA. Translation: AAC24453.1. D89327 Genomic DNA. Translation: BAA13944.1. D87942 mRNA. Translation: BAA21684.1. AY937240 Genomic DNA. Translation: AAX14047.1. D82933 Genomic DNA. Translation: BAA11638.1. Different initiation.
PIR	A56098.
RefSeq	NP_000502.4. NP_001091107.1.
UniGene	Hs.579928
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000176920. Homo sapiens. [Contig view]
GeneID	2524.
KEGG	hsa:2524.
Organism-specific databases
H-InvDB	HIX0023049.
HGNC	HGNC:4013. FUT2.
HPA	HPA014402.
MIM	182100. gene+phenotype.
PharmGKB	PA28429.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q10981.
HOVERGEN	Q10981.
Gene expression databases
ArrayExpress	Q10981.
CleanEx	HS_FUT2.
GermOnline	ENSG00000176920. 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	9937.
SOURCE	Search...

Entry information

Entry name

FUT2_HUMAN

Accession

Primary (citable) accession number: Q10981
Secondary accession number(s): Q14338, Q5D0G2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	November 4, 2008
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)