Q10981 (FUT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Galactoside 2-alpha-L-fucosyltransferase 2
EC=2.4.1.69

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

Gene names

Name:	FUT2
Synonyms:	SEC2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	343 AA.
Sequence status	Complete.
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 the Japanese population: Se1, Se2, and Sej. Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIM:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency.
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.
Sequence caution	The sequence BAA11638.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative initiation Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Blood group antigen Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	L-fucose catabolic process Non-traceable author statement PubMed 11698403. Source: UniProtKB protein glycosylation Non-traceable author statement. Source: UniProtKB
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to Golgi membrane Non-traceable author statement. Source: UniProtKB
Molecular_function	galactoside 2-alpha-L-fucosyltransferase activity Traceable author statement PubMed 11698403. 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	Helical; 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. Ref.4 Ref.7 Corresponds to variant rs1800021 [ dbSNP | Ensembl ].		VAR_003422
	Natural variant	138	1	R → C Polymorphism found in Xhosa population. Ref.4 Ref.7 Corresponds to variant rs1800022 [ dbSNP | Ensembl ].		VAR_003423
	Natural variant	140	1	I → F in allele Sej; non-secretor phenotype. Ref.2 Ref.3 Ref.5 Corresponds to variant rs1047781 [ dbSNP | Ensembl ].		VAR_003424
	Natural variant	172	1	D → N Polymorphism found in Xhosa population. Ref.4 Ref.7 Corresponds to variant rs1800025 [ dbSNP | Ensembl ].		VAR_003425
	Natural variant	258	1	G → S. Ref.4 Corresponds to variant rs602662 [ dbSNP | Ensembl ].		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	FASTA	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

	« Hide 'large scale' referencesShow 'large scale' 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT PHE-140.
[4]	SeattleSNPs variation discovery resource 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]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG), VARIANT PHE-140.
[6]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-343.
[7]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS VAL-25; CYS-138 AND ASN-172.
[8]	"Common variants of FUT2 are associated with plasma vitamin B12 levels." Hazra A., Kraft P., Selhub J., Giovannucci E.L., Thomas G., Hoover R.N., Chanock S.J., Hunter D.J. Nat. Genet. 40:1160-1162(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN B12QTL1.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

Fucosyltransferase 2

Cross-references

Sequence databases
EMBL GenBank DDBJ	U17894 Genomic DNA. Translation: AAC24453.1. D89327 Genomic DNA. Translation: BAA13944.1. D87942 mRNA. Translation: BAA21684.1. AY937240 Genomic DNA. Translation: AAX14047.1. BC121066 mRNA. No translation available. D82933 Genomic DNA. Translation: BAA11638.1. Different initiation.
IPI	IPI00027489. IPI00759674.
PIR	A56098.
RefSeq	NP_000502.4. NM_000511.5. NP_001091107.1. NM_001097638.2.
UniGene	Hs.579928.
3D structure databases
ProteinModelPortal	Q10981.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000375748.
Protein family/group databases
CAZy	GT11. Glycosyltransferase Family 11.
PTM databases
PhosphoSite	Q10981.
Polymorphism databases
DMDM	1730125.
Proteomic databases
PaxDb	Q10981.
PRIDE	Q10981.
Protocols and materials databases
DNASU	2524.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000391876; ENSP00000375748; ENSG00000176920. ENST00000425340; ENSP00000387498; ENSG00000176920.
GeneID	2524.
KEGG	hsa:2524.
UCSC	uc002pke.4. human.
Organism-specific databases
CTD	2524.
GeneCards	GC19P049199.
HGNC	HGNC:4013. FUT2.
HPA	HPA014402.
MIM	182100. gene+phenotype. 612542. phenotype.
neXtProt	NX_Q10981.
PharmGKB	PA28429.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG17447.
HOGENOM	HOG000261621.
HOVERGEN	HBG004338.
InParanoid	Q10981.
KO	K00718.
OMA	FSFPMAH.
OrthoDB	EOG4BK545.
PhylomeDB	Q10981.
Enzyme and pathway databases
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q10981.
Bgee	Q10981.
CleanEx	HS_FUT2.
Genevestigator	Q10981.
GermOnline	ENSG00000176920. Homo sapiens.
Family and domain databases
InterPro	IPR002516. Glyco_trans_11. [Graphical view]
PANTHER	PTHR11927. PTHR11927. 1 hit.
Pfam	PF01531. Glyco_transf_11. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2524.
NextBio	9937.
SOURCE	Search...

Entry information

Entry name

FUT2_HUMAN

Accession

Primary (citable) accession number: Q10981
Secondary accession number(s): Q0VAG5, Q14338, Q5D0G2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	April 3, 2013
This is version 126 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.