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Reviewed, UniProtKB/Swiss-Prot Q10981 (FUT2_HUMAN)

Last modified November 4, 2008. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

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

Protein attributes

Sequence length343 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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 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

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 – 2814Signal-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. dbSNP rs1800021.
VAR_003422
Natural variant1381R → C Polymorphism found in Xhosa population. dbSNP rs1800022.
VAR_003423
Natural variant1401I → F in allele Sej; non-secretor phenotype.
VAR_003424
Natural variant1721D → N Polymorphism found in Xhosa population. dbSNP rs1800025.
VAR_003425
Natural variant2581G → S
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 »

33237,740

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

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.
PIRA56098.
RefSeqNP_000502.4.
NP_001091107.1.
UniGeneHs.579928

3D structure databases

ModBaseSearch...

Genome annotation databases

EnsemblENSG00000176920. Homo sapiens. [Contig view]
GeneID2524.
KEGGhsa:2524.

Organism-specific databases

H-InvDBHIX0023049.
HGNCHGNC:4013. FUT2.
HPAHPA014402.
MIM182100. gene+phenotype.
PharmGKBPA28429.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ10981.
HOVERGENQ10981.

Gene expression databases

ArrayExpressQ10981.
CleanExHS_FUT2.
GermOnlineENSG00000176920. Homo sapiens.

Family and domain databases

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

Other Resources

NextBio9937.
SOURCESearch...

Entry information

Entry nameFUT2_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries

Human chromosome 19

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

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