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UniProtKB/Swiss-Prot entry P21217


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

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Entry information
Entry name FUT3_HUMAN
Primary accession number P21217
Secondary accession numbers B5U7U9 Q32NE7 Q99448 Q99449
Integrated into Swiss-Prot on May 1, 1991
Sequence was last modified on May 1, 1991 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 102)
Name and origin of the protein
Protein name Galactoside 3(4)-L-fucosyltransferase
Synonyms EC 2.4.1.65
Blood group Lewis alpha-4-fucosyltransferase
Lewis FT
Fucosyltransferase 3
Fucosyltransferase III
FucT-III
Gene name
Name: FUT3
Synonyms: FT3B, LE
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 [MRNA].
PubMed=1977660 [NCBI, ExPASy, EBI, Israel, Japan]
Kukowska-Latallo J.F., Larsen R.D., Nair R.P., Lowe J.B.;
"A cloned human cDNA determines expression of a mouse stage-specific embryonic antigen and the Lewis blood group alpha(1,3/1,4)fucosyltransferase.";
Genes Dev. 4:1288-1303(1990).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
DOI=10.1074/jbc.270.34.20112; PubMed=7650030 [NCBI, ExPASy, EBI, Israel, Japan]
Cameron H.S., Szczepaniak D., Weston B.W.;
"Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms.";
J. Biol. Chem. 270:20112-20122(1995).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Squamous cell carcinoma;
Rahim I., Schmidt L.R., Wahl D., Drayson E., Maslanik W., Stranahan P.L., Pettijohn D.E.;
"Isolation and expression of human alpha (1,3/1,4) fucosyltransferase.";
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ARG-68.
TISSUE=Blood;
Matzhold E.M.;
"Allele frequencies of fucosyltransferases 1, 2, and 3 of Styrian blood donors.";
Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-5; ARG-20; ARG-68; MET-105; CYS-160; ASN-162; SER-170; ARG-223; MET-270; MET-325 AND GLN-327.
SeattleSNPs variation discovery resource;
Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon, and Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
VARIANT LE(-) MET-105.
DOI=10.1006/bbrc.1993.2280; PubMed=8240322 [NCBI, ExPASy, EBI, Israel, Japan]
Elmgren A., Rydberg L., Larson G.;
"Genotypic heterogeneity among Lewis negative individuals.";
Biochem. Biophys. Res. Commun. 196:515-520(1993).
[8]
VARIANTS LE(-) ARG-20; SER-170 AND ALA-336.
DOI=10.1006/bbrc.1993.2295; PubMed=8240337 [NCBI, ExPASy, EBI, Israel, Japan]
Nishihara S., Yazawa S., Iwasaki H., Nakazato M., Kudo T., Ando T., Narimatsu H.;
"Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals.";
Biochem. Biophys. Res. Commun. 196:624-631(1993).
[9]
VARIANTS LE(-) ARG-20 AND SER-170.
PubMed=8219240 [NCBI, ExPASy, EBI, Israel, Japan]
Koda Y., Kimura H., Mekada E.;
"Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals.";
Blood 82:2915-2919(1993).
[10]
VARIANTS LE(-) ARG-20 AND LYS-356.
PubMed=8063716 [NCBI, ExPASy, EBI, Israel, Japan]
Mollicone R., Reguigne I., Kelly R.J., Fletcher A., Watt J., Chatfield S., Aziz A., Cameron H.S., Weston B.W., Lowe J.B., Oriol R.;
"Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees.";
J. Biol. Chem. 269:20987-20994(1994).
[11]
VARIANT LE(-) LYS-356.
PubMed=7961897 [NCBI, ExPASy, EBI, Israel, Japan]
Nishihara S., Narimatsu H., Iwasaki H., Yazawa S., Akamatsu S., Ando T., Seno T., Narimatsu I.;
"Molecular genetic analysis of the human Lewis histo-blood group system.";
J. Biol. Chem. 269:29271-29278(1994).
[12]
VARIANTS LE(-) ARG-20; ARG-68; MET-105 AND LYS-356.
DOI=10.1111/j.1423-0410.1996.tb01300.x; PubMed=8801770 [NCBI, ExPASy, EBI, Israel, Japan]
Elmgren A., Boerjeson C., Svensson L., Rydberg L., Larson G.;
"DNA sequencing and screening for point mutations in the human Lewis 'FUT3' gene enables molecular genotyping of the human Lewis blood group system.";
Vox Sang. 70:97-103(1996).
[13]
VARIANTS LE(-) ARG-68 AND MET-105.
DOI=10.1074/jbc.272.35.21994; PubMed=9268337 [NCBI, ExPASy, EBI, Israel, Japan]
Elmgren A., Mollicone R., Costache M., Boerjeson C., Oriol R., Harrington J., Larson G.;
"Significance of individual point mutations, T202C and C314T, in the human Lewis 'FUT3' gene for expression of Lewis antigens by the human alpha'1,3/1,4'-fucosyltransferase, Fuc-TIII.";
J. Biol. Chem. 272:21994-21998(1997).
[14]
VARIANTS LE(+) LYS-102 AND ALA-124, AND VARIANTS LE(-) ASN-162; ARG-223 AND MET-270.
DOI=10.1007/s004390050760; PubMed=9703429 [NCBI, ExPASy, EBI, Israel, Japan]
Pang H., Liu Y., Koda Y., Soejima M., Jia J., Schlaphoff T., du Toit E.D., Kimura H.;
"Five novel missense mutations of the Lewis gene 'FUT3' in African 'Xhosa' and Caucasian populations in South Africa.";
Hum. Genet. 102:675-680(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
X53578; CAA37641.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U27328; AAC50187.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U27326; AAC50185.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U27327; AAC50186.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
D89324; BAA13941.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
D89325; BAA13942.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF131913; AAD33514.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
FM210024; CAR64692.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY870341; AAW34365.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074836; AAH74836.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074837; AAH74837.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC108675; AAI08676.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00007671; -.
PIR A36669; A36669.
RefSeq NP_000140.1; -.
NP_001091108.1; -.
NP_001091109.1; -.
NP_001091110.1; -.
UniGene Hs.169238
3D structure databases
ModBase P21217.
Protein family/group databases
CAZy GT10; Glycosyltransferase Family 10.
PTM databases
PhosphoSite P21217; -.
Enzyme and pathway databases
BRENDA 2.4.1.65; 247.
Organism-specific databases
GeneCards GC19M005793; -.
H-InvDB HIX0039971; -.
HGNC HGNC:4014; FUT3.
GenAtlas FUT3.
MIM 111100; gene+phenotype. [NCBI / EBI]
PharmGKB PA28430; -.
Gene expression databases
ArrayExpress P21217; -.
Bgee P21217; -.
CleanEx HS_FUT3; -.
GermOnline ENSG00000171124; Homo sapiens.
Ontologies
GO
GO:0032580; Cellular component: Golgi cisterna membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0016021; Cellular component: integral to membrane (inferred from electronic annotation from UniProtKB-KW).
GO:0005624; Cellular component: membrane fraction (traceable author statement from ProtInc).
GO:0017060; Molecular function: 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (inferred from electronic annotation from EC).
GO:0006486; Biological process: protein amino acid glycosylation (inferred from electronic annotation from InterPro).
QuickGo view.
Family and domain databases
InterPro IPR001503; Glyco_trans_10.
Graphical view of domain structure.
PANTHER PTHR11929; Glyco_trans_10; 1.
Pfam PF00852; Glyco_transf_10; 1.
Pfam graphical view of domain structure.
Proteomic databases
PRIDE P21217; -.
Genome annotation databases
Ensembl ENSG00000171124; Homo sapiens. [Contig view]
GeneID 2525; -.
KEGG hsa:2525; -.
Phylogenomic databases
HOGENOM P21217; -.
HOVERGEN P21217; -.
Other
NextBio 9943; -.
SOURCE FUT3; Homo sapiens.
ProtoNet P21217.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
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   361  361     Galactoside 3(4)-L-fucosyltransferase. PRO_0000221096
TOPO_DOM   1    15  15     Cytoplasmic (Potential). 
TRANSMEM   16    34  19     Signal-anchor for type II membrane protein (Potential). 
TOPO_DOM   35   361  327     Lumenal (Potential). 
CARBOHYD   154   154        N-linked (GlcNAc...) (Probable). 
CARBOHYD   185   185        N-linked (GlcNAc...) (Probable). 
VARIANT   5     5  1     G -> S (in dbSNP:rs28362458 [NCBI]). VAR_022200 
VARIANT   20    20  1     L -> R (in Le(-); dbSNP:rs28362459 [NCBI]). VAR_003426 
VARIANT   68    68  1     W -> R (in Le(-); dbSNP:rs812936 [NCBI]). VAR_007959 
VARIANT   102   102  1     Q -> K (in Le(+)). VAR_007960 
VARIANT   105   105  1     T -> M (in Le(-); dbSNP:rs778986 [NCBI]). VAR_003427 
VARIANT   124   124  1     S -> A (in Le(+)). VAR_007961 
VARIANT   160   160  1     R -> C (in dbSNP:rs28362462 [NCBI]). VAR_022201 
VARIANT   162   162  1     D -> N (in Le(-); dbSNP:rs28362463 [NCBI]). VAR_007962 
VARIANT   170   170  1     G -> S (in Le(-); completely inactive; dbSNP:rs28362464 [NCBI]). VAR_003428 
VARIANT   223   223  1     G -> R (in Le(-); dbSNP:rs28362466 [NCBI]). VAR_007963 
VARIANT   270   270  1     V -> M (in Le(-); dbSNP:rs28381968 [NCBI]). VAR_007964 
VARIANT   325   325  1     T -> M (in dbSNP:rs28381969 [NCBI]). VAR_022202 
VARIANT   327   327  1     R -> Q (in dbSNP:rs28381970 [NCBI]). VAR_022203 
VARIANT   336   336  1     D -> A (in Le(-)). VAR_003429 
VARIANT   356   356  1     I -> K (in Le(-); less than 10% reduction in activity; dbSNP:rs3894326 [NCBI]). VAR_003430 
Sequence information
Length: 361 AA [This is the length of the unprocessed precursor] Molecular weight: 42117 Da [This is the MW of the unprocessed precursor] CRC64: BF4398044F19C284 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MDPLGAAKPQ WPWRRCLAAL LFQLLVAVCF FSYLRVSRDD ATGSPRAPSG SSRQDTTPTR 

        70         80         90        100        110        120 
PTLLILLWTW PFHIPVALSR CSEMVPGTAD CHITADRKVY PQADTVIVHH WDIMSNPKSR 

       130        140        150        160        170        180 
LPPSPRPQGQ RWIWFNLEPP PNCQHLEALD RYFNLTMSYR SDSDIFTPYG WLEPWSGQPA 

       190        200        210        220        230        240 
HPPLNLSAKT ELVAWAVSNW KPDSARVRYY QSLQAHLKVD VYGRSHKPLP KGTMMETLSR 

       250        260        270        280        290        300 
YKFYLAFENS LHPDYITEKL WRNALEAWAV PVVLGPSRSN YERFLPPDAF IHVDDFQSPK 

       310        320        330        340        350        360 
DLARYLQELD KDHARYLSYF RWRETLRPRS FSWALDFCKA CWKLQQESRY QTVRSIAAWF 


T 

P21217 in FASTA format

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