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Q10981 (FUT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length343 AA.
Sequence statusComplete.
Protein existenceEvidence 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 apparatusGolgi 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 343343Galactoside 2-alpha-L-fucosyltransferase 2
PRO_0000012140

Regions

Topological domain1 – 1414Cytoplasmic Potential
Transmembrane15 – 2814Helical; Signal-anchor for type II membrane protein; Potential
Topological domain29 – 343315Lumenal Potential

Amino acid modifications

Glycosylation1881N-linked (GlcNAc...) Potential
Glycosylation2821N-linked (GlcNAc...) Potential
Glycosylation3081N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 1111Missing in isoform Short.
VSP_018736
Natural variant251I → V Polymorphism found in Xhosa population. Ref.4 Ref.7
Corresponds to variant rs1800021 [ dbSNP | Ensembl ].
VAR_003422
Natural variant1381R → C Polymorphism found in Xhosa population. Ref.4 Ref.7
Corresponds to variant rs1800022 [ dbSNP | Ensembl ].
VAR_003423
Natural variant1401I → F in allele Sej; non-secretor phenotype. Ref.2 Ref.3 Ref.5
Corresponds to variant rs1047781 [ dbSNP | Ensembl ].
VAR_003424
Natural variant1721D → N Polymorphism found in Xhosa population. Ref.4 Ref.7
Corresponds to variant rs1800025 [ dbSNP | Ensembl ].
VAR_003425
Natural variant2581G → S. Ref.4
Corresponds to variant rs602662 [ dbSNP | Ensembl ].
VAR_022187

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 12066D9CF175E13A

FASTA34339,017
        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 

« Hide

Isoform Short [UniParc].

Checksum: 96DE97ED89807A8A
Show »

FASTA33237,740

References

« Hide '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.
PIRA56098.
RefSeqNP_000502.4. NM_000511.5.
NP_001091107.1. NM_001097638.2.
UniGeneHs.579928.

3D structure databases

ProteinModelPortalQ10981.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000375748.

Protein family/group databases

CAZyGT11. Glycosyltransferase Family 11.

PTM databases

PhosphoSiteQ10981.

Polymorphism databases

DMDM1730125.

Proteomic databases

PaxDbQ10981.
PRIDEQ10981.

Protocols and materials databases

DNASU2524.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000391876; ENSP00000375748; ENSG00000176920. [Q10981-1]
ENST00000425340; ENSP00000387498; ENSG00000176920. [Q10981-1]
GeneID2524.
KEGGhsa:2524.
UCSCuc002pke.4. human. [Q10981-1]

Organism-specific databases

CTD2524.
GeneCardsGC19P049199.
HGNCHGNC:4013. FUT2.
HPAHPA014402.
MIM182100. gene+phenotype.
612542. phenotype.
neXtProtNX_Q10981.
PharmGKBPA28429.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG17447.
HOGENOMHOG000261621.
HOVERGENHBG004338.
InParanoidQ10981.
KOK00718.
OMAFSFPMAH.
PhylomeDBQ10981.
TreeFamTF315810.

Enzyme and pathway databases

UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ10981.
BgeeQ10981.
CleanExHS_FUT2.
GenevestigatorQ10981.

Family and domain databases

InterProIPR002516. Glyco_trans_11.
[Graphical view]
PANTHERPTHR11927. PTHR11927. 1 hit.
PfamPF01531. Glyco_transf_11. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFUT2.
GenomeRNAi2524.
NextBio9937.
PROQ10981.
SOURCESearch...

Entry information

Entry nameFUT2_HUMAN
AccessionPrimary (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 16, 2014
This is version 134 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries