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Galactoside 3(4)-L-fucosyltransferase (EC 2.4.1.65) (Blood group Lewis alpha-4-fucosyltransferase) (Lewis FT) (Fucosyltransferase 3) (Fucosyltransferase III) (FucT-III)

 FUT3_HUMAN              Reviewed;         361 AA.
P21217; B5U7U9; B5U7V0; Q32NE7; Q99448; Q99449;
01-MAY-1991, integrated into UniProtKB/Swiss-Prot.
01-MAY-1991, sequence version 1.
18-JUL-2018, entry version 183.
RecName: Full=Galactoside 3(4)-L-fucosyltransferase;
EC=2.4.1.65;
AltName: Full=Blood group Lewis alpha-4-fucosyltransferase;
Short=Lewis FT;
AltName: Full=Fucosyltransferase 3;
AltName: Full=Fucosyltransferase III;
Short=FucT-III;
Name=FUT3; Synonyms=FT3B, LE;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1977660; DOI=10.1101/gad.4.8.1288;
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;
PubMed=7650030; DOI=10.1074/jbc.270.34.20112;
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 VARIANTS ARG-68 AND MET-105.
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 GENOMIC DNA], AND VARIANTS ARG-68 AND
MET-105.
PubMed=15057824; DOI=10.1038/nature02399;
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
Rubin E.M., Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon, and Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
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).
[8]
VARIANT LE(-) MET-105.
PubMed=8240322; DOI=10.1006/bbrc.1993.2280;
Elmgren A., Rydberg L., Larson G.;
"Genotypic heterogeneity among Lewis negative individuals.";
Biochem. Biophys. Res. Commun. 196:515-520(1993).
[9]
VARIANTS LE(-) ARG-20; SER-170 AND ALA-336.
PubMed=8240337; DOI=10.1006/bbrc.1993.2295;
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).
[10]
VARIANTS LE(-) ARG-20 AND SER-170.
PubMed=8219240;
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).
[11]
VARIANTS LE(-) ARG-20 AND LYS-356.
PubMed=8063716;
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).
[12]
VARIANT LE(-) LYS-356.
PubMed=7961897;
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).
[13]
VARIANTS LE(-) ARG-20; ARG-68; MET-105 AND LYS-356.
PubMed=8801770; DOI=10.1111/j.1423-0410.1996.tb01300.x;
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).
[14]
VARIANTS LE(-) ARG-68 AND MET-105.
PubMed=9268337; DOI=10.1074/jbc.272.35.21994;
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).
[15]
VARIANTS LE(+) LYS-102 AND ALA-124, AND VARIANTS LE(-) ASN-162;
ARG-223 AND MET-270.
PubMed=9703429; DOI=10.1007/s004390050760;
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).
-!- FUNCTION: May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages
involved in the expression of Vim-2, Lewis A, Lewis B, sialyl
Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood
group Lewis determination; Lewis-positive (Le(+)) individuals have
an active enzyme while Lewis-negative (Le(-)) individuals have an
inactive enzyme. Also acts on the corresponding 1,4-galactosyl
derivative, forming 1,3-L-fucosyl links.
-!- CATALYTIC ACTIVITY: GDP-beta-L-fucose + beta-D-galactosyl-(1->3)-
N-acetyl-D-glucosaminyl-R = GDP + beta-D-galactosyl-(1->3)-(alpha-
L-fucosyl-(1->4))-N-acetyl-beta-D-glucosaminyl-R.
-!- 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: Highly expressed in stomach, colon, small
intestine, lung and kidney and to a lesser extent in salivary
gland, bladder, uterus and liver.
-!- SIMILARITY: Belongs to the glycosyltransferase 10 family.
{ECO:0000305}.
-!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
mutation database;
URL="https://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=lewis";
-!- WEB RESOURCE: Name=SeattleSNPs;
URL="http://pga.gs.washington.edu/data/fut3/";
-!- WEB RESOURCE: Name=Functional Glycomics Gateway - GTase;
Note=Fucosyltransferase 3;
URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_600";
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EMBL; X53578; CAA37641.1; -; mRNA.
EMBL; U27326; AAC50185.1; -; mRNA.
EMBL; U27327; AAC50186.1; -; mRNA.
EMBL; U27328; AAC50187.1; -; mRNA.
EMBL; D89324; BAA13941.1; -; Genomic_DNA.
EMBL; D89325; BAA13942.1; -; Genomic_DNA.
EMBL; AF131913; AAD33514.1; -; mRNA.
EMBL; FM210024; CAR64692.1; -; Genomic_DNA.
EMBL; FM210025; CAR64693.1; -; Genomic_DNA.
EMBL; AY870341; AAW34365.1; -; Genomic_DNA.
EMBL; AC024592; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC074836; AAH74836.1; -; mRNA.
EMBL; BC074837; AAH74837.1; -; mRNA.
EMBL; BC108675; AAI08676.1; -; mRNA.
CCDS; CCDS12153.1; -.
PIR; A36669; A36669.
RefSeq; NP_000140.1; NM_000149.3.
RefSeq; NP_001091108.1; NM_001097639.1.
RefSeq; NP_001091109.1; NM_001097640.1.
RefSeq; NP_001091110.1; NM_001097641.1.
RefSeq; XP_011526167.1; XM_011527865.1.
RefSeq; XP_011526168.1; XM_011527866.1.
RefSeq; XP_011526169.1; XM_011527867.1.
UniGene; Hs.169238; -.
ProteinModelPortal; P21217; -.
BioGrid; 108801; 20.
IntAct; P21217; 5.
STRING; 9606.ENSP00000305603; -.
ChEMBL; CHEMBL3269; -.
SwissLipids; SLP:000001370; -.
CAZy; GT10; Glycosyltransferase Family 10.
iPTMnet; P21217; -.
PhosphoSitePlus; P21217; -.
BioMuta; FUT3; -.
DMDM; 121137; -.
EPD; P21217; -.
MaxQB; P21217; -.
PaxDb; P21217; -.
PeptideAtlas; P21217; -.
PRIDE; P21217; -.
ProteomicsDB; 53853; -.
DNASU; 2525; -.
Ensembl; ENST00000303225; ENSP00000305603; ENSG00000171124.
Ensembl; ENST00000458379; ENSP00000416443; ENSG00000171124.
Ensembl; ENST00000589620; ENSP00000465804; ENSG00000171124.
Ensembl; ENST00000589918; ENSP00000468123; ENSG00000171124.
GeneID; 2525; -.
KEGG; hsa:2525; -.
UCSC; uc002mdj.3; human.
CTD; 2525; -.
DisGeNET; 2525; -.
EuPathDB; HostDB:ENSG00000171124.12; -.
GeneCards; FUT3; -.
HGNC; HGNC:4014; FUT3.
HPA; HPA046966; -.
MIM; 111100; gene+phenotype.
neXtProt; NX_P21217; -.
PharmGKB; PA28430; -.
eggNOG; KOG2619; Eukaryota.
eggNOG; ENOG410ZIMX; LUCA.
HOGENOM; HOG000045583; -.
HOVERGEN; HBG000274; -.
InParanoid; P21217; -.
KO; K00716; -.
OrthoDB; EOG091G0846; -.
PhylomeDB; P21217; -.
TreeFam; TF316348; -.
BioCyc; MetaCyc:HS10249-MONOMER; -.
BRENDA; 2.4.1.65; 2681.
Reactome; R-HSA-975578; Reactions specific to the complex N-glycan synthesis pathway.
SIGNOR; P21217; -.
UniPathway; UPA00378; -.
ChiTaRS; FUT3; human.
GeneWiki; Fucosyltransferase_3; -.
GenomeRNAi; 2525; -.
PRO; PR:P21217; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000171124; -.
CleanEx; HS_FUT3; -.
ExpressionAtlas; P21217; baseline and differential.
Genevisible; P21217; HS.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0032580; C:Golgi cisterna membrane; IEA:UniProtKB-SubCell.
GO; GO:0000139; C:Golgi membrane; IBA:GO_Central.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0016020; C:membrane; IDA:BHF-UCL.
GO; GO:0017060; F:3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; TAS:Reactome.
GO; GO:0046920; F:alpha-(1->3)-fucosyltransferase activity; IDA:BHF-UCL.
GO; GO:0008417; F:fucosyltransferase activity; IDA:BHF-UCL.
GO; GO:0009988; P:cell-cell recognition; IC:BHF-UCL.
GO; GO:0006672; P:ceramide metabolic process; IDA:BHF-UCL.
GO; GO:0043413; P:macromolecule glycosylation; IDA:BHF-UCL.
GO; GO:0009312; P:oligosaccharide biosynthetic process; IDA:BHF-UCL.
GO; GO:0006486; P:protein glycosylation; IEA:UniProtKB-UniPathway.
Gene3D; 3.40.50.11660; -; 1.
InterPro; IPR031481; Glyco_tran_10_N.
InterPro; IPR001503; Glyco_trans_10.
InterPro; IPR038577; GT10-like_sf.
PANTHER; PTHR11929; PTHR11929; 1.
Pfam; PF17039; Glyco_tran_10_N; 1.
Pfam; PF00852; Glyco_transf_10; 1.
2: Evidence at transcript level;
Blood group antigen; Complete proteome; Glycoprotein;
Glycosyltransferase; Golgi apparatus; Membrane; Polymorphism;
Reference proteome; Signal-anchor; Transferase; Transmembrane;
Transmembrane helix.
CHAIN 1 361 Galactoside 3(4)-L-fucosyltransferase.
/FTId=PRO_0000221096.
TOPO_DOM 1 15 Cytoplasmic. {ECO:0000255}.
TRANSMEM 16 34 Helical; Signal-anchor for type II
membrane protein. {ECO:0000255}.
TOPO_DOM 35 361 Lumenal. {ECO:0000255}.
CARBOHYD 154 154 N-linked (GlcNAc...) asparagine.
{ECO:0000305}.
CARBOHYD 185 185 N-linked (GlcNAc...) asparagine.
{ECO:0000305}.
VARIANT 5 5 G -> S (in dbSNP:rs28362458).
{ECO:0000269|Ref.5}.
/FTId=VAR_022200.
VARIANT 20 20 L -> R (in Le(-); dbSNP:rs28362459).
{ECO:0000269|PubMed:8063716,
ECO:0000269|PubMed:8219240,
ECO:0000269|PubMed:8240337,
ECO:0000269|PubMed:8801770,
ECO:0000269|Ref.5}.
/FTId=VAR_003426.
VARIANT 68 68 W -> R (in Le(-); dbSNP:rs812936).
{ECO:0000269|PubMed:15057824,
ECO:0000269|PubMed:8801770,
ECO:0000269|PubMed:9268337,
ECO:0000269|Ref.4, ECO:0000269|Ref.5}.
/FTId=VAR_007959.
VARIANT 102 102 Q -> K (in Le(+); dbSNP:rs59796499).
{ECO:0000269|PubMed:9703429}.
/FTId=VAR_007960.
VARIANT 105 105 T -> M (in Le(-); dbSNP:rs778986).
{ECO:0000269|PubMed:15057824,
ECO:0000269|PubMed:8240322,
ECO:0000269|PubMed:8801770,
ECO:0000269|PubMed:9268337,
ECO:0000269|Ref.4, ECO:0000269|Ref.5}.
/FTId=VAR_003427.
VARIANT 124 124 S -> A (in Le(+)).
{ECO:0000269|PubMed:9703429}.
/FTId=VAR_007961.
VARIANT 160 160 R -> C (in dbSNP:rs28362462).
{ECO:0000269|Ref.5}.
/FTId=VAR_022201.
VARIANT 162 162 D -> N (in Le(-); dbSNP:rs28362463).
{ECO:0000269|PubMed:9703429,
ECO:0000269|Ref.5}.
/FTId=VAR_007962.
VARIANT 170 170 G -> S (in Le(-); completely inactive;
dbSNP:rs3745635).
{ECO:0000269|PubMed:8219240,
ECO:0000269|PubMed:8240337,
ECO:0000269|Ref.5}.
/FTId=VAR_003428.
VARIANT 223 223 G -> R (in Le(-); dbSNP:rs28362466).
{ECO:0000269|PubMed:9703429,
ECO:0000269|Ref.5}.
/FTId=VAR_007963.
VARIANT 270 270 V -> M (in Le(-); dbSNP:rs28381968).
{ECO:0000269|PubMed:9703429,
ECO:0000269|Ref.5}.
/FTId=VAR_007964.
VARIANT 325 325 T -> M (in dbSNP:rs28381969).
{ECO:0000269|Ref.5}.
/FTId=VAR_022202.
VARIANT 327 327 R -> Q (in dbSNP:rs28381970).
{ECO:0000269|Ref.5}.
/FTId=VAR_022203.
VARIANT 336 336 D -> A (in Le(-)).
{ECO:0000269|PubMed:8240337}.
/FTId=VAR_003429.
VARIANT 356 356 I -> K (in Le(-); less than 10% reduction
in activity; dbSNP:rs3894326).
{ECO:0000269|PubMed:7961897,
ECO:0000269|PubMed:8063716,
ECO:0000269|PubMed:8801770}.
/FTId=VAR_003430.
SEQUENCE 361 AA; 42117 MW; BF4398044F19C284 CRC64;
MDPLGAAKPQ WPWRRCLAAL LFQLLVAVCF FSYLRVSRDD ATGSPRAPSG SSRQDTTPTR
PTLLILLWTW PFHIPVALSR CSEMVPGTAD CHITADRKVY PQADTVIVHH WDIMSNPKSR
LPPSPRPQGQ RWIWFNLEPP PNCQHLEALD RYFNLTMSYR SDSDIFTPYG WLEPWSGQPA
HPPLNLSAKT ELVAWAVSNW KPDSARVRYY QSLQAHLKVD VYGRSHKPLP KGTMMETLSR
YKFYLAFENS LHPDYITEKL WRNALEAWAV PVVLGPSRSN YERFLPPDAF IHVDDFQSPK
DLARYLQELD KDHARYLSYF RWRETLRPRS FSWALDFCKA CWKLQQESRY QTVRSIAAWF
T


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