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UniProtKB/Swiss-Prot entry Q10981


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FUT2_HUMAN
Primary accession number Q10981
Secondary accession numbers Q14338 Q5D0G2
Integrated into Swiss-Prot on October 1, 1996
Sequence was last modified on October 1, 1996 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 78)
Name and origin of the protein
Protein name Galactoside 2-alpha-L-fucosyltransferase 2
Synonyms EC 2.4.1.69
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
Se
Gene name
Name: FUT2
Synonyms: SEC2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
DOI=10.1074/jbc.270.9.4640; PubMed=7876235 [NCBI, ExPASy, EBI, Israel, Japan]
Kelly R.J., Rouquier S., Giorgi D., Lennon G.G., Lowe J.B.;
"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.";
J. Biol. Chem. 270:4640-4649(1995).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT), AND VARIANT PHE-140.
DOI=10.1074/jbc.271.16.9830; PubMed=8621666 [NCBI, ExPASy, EBI, Israel, Japan]
Kudo T., Iwasaki H., Nishihara S., Shinya N., Ando T., Narimatsu I., Narimatsu H.;
"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.";
J. Biol. Chem. 271:9830-9837(1996).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), AND VARIANT PHE-140.
PubMed=9219535 [NCBI, ExPASy, EBI, Israel, Japan]
Koda Y., Soejima M., Wang B., Kimura H.;
"Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2).";
Eur. J. Biochem. 246:750-755(1997).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-25; CYS-138; ASN-172 AND SER-258.
SeattleSNPs program for genomic applications;
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-343.
PubMed=8755920 [NCBI, ExPASy, EBI, Israel, Japan]
Koda Y., Soejima M., Liu Y., Kimura H.;
"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.";
Am. J. Hum. Genet. 59:343-350(1996).
[6]
VARIANTS VAL-25; CYS-138 AND ASN-172.
DOI=10.1007/s004390050808; PubMed=9760207 [NCBI, ExPASy, EBI, Israel, Japan]
Liu Y., Koda Y., Soejima M., Pang H., Schlaphoff T., du Toit E.D., Kimura H.;
"Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa.";
Hum. Genet. 103:204-210(1998).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U17894; AAC24453.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
D89327; BAA13944.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
D87942; BAA21684.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY937240; AAX14047.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
D82933; BAA11638.1; ALT_INIT; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A56098; A56098.
RefSeq NP_000502.4; -.
NP_001091107.1; -.
UniGene Hs.579928
3D structure databases
ModBase Q10981.
Organism-specific databases
H-InvDB HIX0023049; -.
HGNC HGNC:4013; FUT2.
GenAtlas FUT2.
HPA HPA014402; -.
MIM 182100; gene+phenotype. [NCBI / EBI]
PharmGKB PA28429; -.
GeneCards Q10981.
Gene expression databases
ArrayExpress Q10981; -.
CleanEx HS_FUT2; -.
GermOnline ENSG00000176920; Homo sapiens.
Ontologies
GO
GO:0030173; Cellular component: integral to Golgi membrane (non-traceable author statement from UniProtKB).
GO:0008107; Molecular function: galactoside 2-alpha-L-fucosyltransferase activity (traceable author statement from UniProtKB).
GO:0042355; Biological process: L-fucose catabolic process (non-traceable author statement from UniProtKB).
GO:0006486; Biological process: protein amino acid glycosylation (traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR002516; Glyco_trans_11.
Graphical view of domain structure.
PANTHER PTHR11927; Glyco_trans_11; 1.
Pfam PF01531; Glyco_transf_11; 1.
Pfam graphical view of domain structure.
BLOCKS Q10981.
Genome annotation databases
Ensembl ENSG00000176920; Homo sapiens. [Contig view]
GeneID 2524; -.
KEGG hsa:2524; -.
Phylogenomic databases
HOGENOM Q10981; -.
HOVERGEN Q10981; -.
Other
SOURCE FUT2; Homo sapiens.
ProtoNet Q10981.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative initiation; Blood group antigen; Glycoprotein; Glycosyltransferase; Golgi apparatus; Membrane; Polymorphism; Signal-anchor; Transferase; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   343  343     Galactoside 2-alpha-L-fucosyltransferase 2. PRO_0000012140
TOPO_DOM   1    14  14     Cytoplasmic (Potential). 
TRANSMEM   15    28  14     Signal-anchor for type II membrane protein (Potential). 
TOPO_DOM   29   343  315     Lumenal (Potential). 
CARBOHYD   188   188        N-linked (GlcNAc...) (Potential). 
CARBOHYD   282   282        N-linked (GlcNAc...) (Potential). 
CARBOHYD   308   308        N-linked (GlcNAc...) (Potential). 
VAR_SEQ   1    11        Missing (in isoform Short). VSP_018736
VARIANT   25    25  1     I -> V (polymorphism found in Xhosa population; dbSNP:rs1800021 [NCBI]). VAR_003422 
VARIANT   138   138  1     R -> C (polymorphism found in Xhosa population; dbSNP:rs1800022 [NCBI]). VAR_003423 
VARIANT   140   140  1     I -> F (in allele Sej; non-secretor phenotype). VAR_003424 
VARIANT   172   172  1     D -> N (polymorphism found in Xhosa population; dbSNP:rs1800025 [NCBI]). VAR_003425 
VARIANT   258   258  1     G -> S. VAR_022187 
Sequence information
Length: 343 AA [This is the length of the unprocessed precursor] Molecular weight: 39017 Da [This is the MW of the unprocessed precursor] CRC64: 12066D9CF175E13A [This is a checksum on the sequence]
        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 

Q10981 in FASTA format

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