P21217 (FUT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Galactoside 3(4)-L-fucosyltransferase
EC=2.4.1.65

Alternative name(s):
Blood group Lewis alpha-4-fucosyltransferase
Short name=Lewis FT
Fucosyltransferase 3
Fucosyltransferase III
Short name=FucT-III

Gene names

Name:	FUT3
Synonyms:	FT3B, LE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	361 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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.
Sequence similarities	Belongs to the glycosyltransferase 10 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Blood group antigen Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell-cell recognition Inferred by curator PubMed 12668675. Source: BHF-UCL macromolecule glycosylation Inferred from direct assay PubMed 12668675Ref.1. Source: BHF-UCL oligosaccharide biosynthetic process Inferred from direct assay Ref.1. Source: BHF-UCL protein glycosylation Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane Inferred from direct assay Ref.1. Source: BHF-UCL
Molecular_function	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity Inferred from electronic annotation. Source: EC alpha-(1->3)-fucosyltransferase activity Inferred from direct assay Ref.1. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 361	361	Galactoside 3(4)-L-fucosyltransferase		PRO_0000221096
Regions
	Topological domain	1 – 15	15	Cytoplasmic Potential
	Transmembrane	16 – 34	19	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	35 – 361	327	Lumenal Potential
Amino acid modifications
	Glycosylation	154	1	N-linked (GlcNAc...) Probable
	Glycosylation	185	1	N-linked (GlcNAc...) Probable
Natural variations
	Natural variant	5	1	G → S. Ref.5 Corresponds to variant rs28362458 [ dbSNP | Ensembl ].		VAR_022200
	Natural variant	20	1	L → R in Le(-). Ref.5 Ref.9 Ref.10 Ref.11 Ref.13 Corresponds to variant rs28362459 [ dbSNP | Ensembl ].		VAR_003426
	Natural variant	68	1	W → R in Le(-). Ref.4 Ref.5 Ref.6 Ref.13 Ref.14 Corresponds to variant rs812936 [ dbSNP | Ensembl ].		VAR_007959
	Natural variant	102	1	Q → K in Le(+). Ref.15 Corresponds to variant rs59796499 [ dbSNP | Ensembl ].		VAR_007960
	Natural variant	105	1	T → M in Le(-). Ref.4 Ref.5 Ref.6 Ref.8 Ref.13 Ref.14 Corresponds to variant rs778986 [ dbSNP | Ensembl ].		VAR_003427
	Natural variant	124	1	S → A in Le(+). Ref.15		VAR_007961
	Natural variant	160	1	R → C. Ref.5 Corresponds to variant rs28362462 [ dbSNP | Ensembl ].		VAR_022201
	Natural variant	162	1	D → N in Le(-). Ref.5 Ref.15 Corresponds to variant rs28362463 [ dbSNP | Ensembl ].		VAR_007962
	Natural variant	170	1	G → S in Le(-); completely inactive. Ref.5 Ref.9 Ref.10 Corresponds to variant rs28362464 [ dbSNP | Ensembl ].		VAR_003428
	Natural variant	223	1	G → R in Le(-). Ref.5 Ref.15 Corresponds to variant rs28362466 [ dbSNP | Ensembl ].		VAR_007963
	Natural variant	270	1	V → M in Le(-). Ref.5 Ref.15 Corresponds to variant rs28381968 [ dbSNP | Ensembl ].		VAR_007964
	Natural variant	325	1	T → M. Ref.5 Corresponds to variant rs28381969 [ dbSNP | Ensembl ].		VAR_022202
	Natural variant	327	1	R → Q. Ref.5 Corresponds to variant rs28381970 [ dbSNP | Ensembl ].		VAR_022203
	Natural variant	336	1	D → A in Le(-). Ref.9		VAR_003429
	Natural variant	356	1	I → K in Le(-); less than 10% reduction in activity. Ref.11 Ref.12 Ref.13 Corresponds to variant rs3894326 [ dbSNP | Ensembl ].		VAR_003430

Sequences

	Sequence		Length	Mass (Da)
	P21217 [UniParc]. Last modified May 1, 1991. Version 1. Checksum: BF4398044F19C284	FASTA	361	42,117
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A cloned human cDNA determines expression of a mouse stage-specific embryonic antigen and the Lewis blood group alpha(1,3/1,4)fucosyltransferase." Kukowska-Latallo J.F., Larsen R.D., Nair R.P., Lowe J.B. Genes Dev. 4:1288-1303(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms." Cameron H.S., Szczepaniak D., Weston B.W. J. Biol. Chem. 270:20112-20122(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[3]	"Isolation and expression of human alpha (1,3/1,4) fucosyltransferase." Rahim I., Schmidt L.R., Wahl D., Drayson E., Maslanik W., Stranahan P.L., Pettijohn D.E. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Squamous cell carcinoma.
[4]	"Allele frequencies of fucosyltransferases 1, 2, and 3 of Styrian blood donors." Matzhold E.M. Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-68 AND MET-105. Tissue: Blood.
[5]	SeattleSNPs variation discovery resource Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-5; ARG-20; ARG-68; MET-105; CYS-160; ASN-162; SER-170; ARG-223; MET-270; MET-325 AND GLN-327.
[6]	"The DNA sequence and biology of human chromosome 19." 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. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ARG-68 AND MET-105.
[7]	"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]. Tissue: Colon and Lung.
[8]	"Genotypic heterogeneity among Lewis negative individuals." Elmgren A., Rydberg L., Larson G. Biochem. Biophys. Res. Commun. 196:515-520(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LE(-) MET-105.
[9]	"Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals." Nishihara S., Yazawa S., Iwasaki H., Nakazato M., Kudo T., Ando T., Narimatsu H. Biochem. Biophys. Res. Commun. 196:624-631(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LE(-) ARG-20; SER-170 AND ALA-336.
[10]	"Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals." Koda Y., Kimura H., Mekada E. Blood 82:2915-2919(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LE(-) ARG-20 AND SER-170.
[11]	"Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees." 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. J. Biol. Chem. 269:20987-20994(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LE(-) ARG-20 AND LYS-356.
[12]	"Molecular genetic analysis of the human Lewis histo-blood group system." Nishihara S., Narimatsu H., Iwasaki H., Yazawa S., Akamatsu S., Ando T., Seno T., Narimatsu I. J. Biol. Chem. 269:29271-29278(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LE(-) LYS-356.
[13]	"DNA sequencing and screening for point mutations in the human Lewis 'FUT3' gene enables molecular genotyping of the human Lewis blood group system." Elmgren A., Boerjeson C., Svensson L., Rydberg L., Larson G. Vox Sang. 70:97-103(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LE(-) ARG-20; ARG-68; MET-105 AND LYS-356.
[14]	"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." Elmgren A., Mollicone R., Costache M., Boerjeson C., Oriol R., Harrington J., Larson G. J. Biol. Chem. 272:21994-21998(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LE(-) ARG-68 AND MET-105.
[15]	"Five novel missense mutations of the Lewis gene 'FUT3' in African 'Xhosa' and Caucasian populations in South Africa." Pang H., Liu Y., Koda Y., Soejima M., Jia J., Schlaphoff T., du Toit E.D., Kimura H. Hum. Genet. 102:675-680(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LE(+) LYS-102 AND ALA-124, VARIANTS LE(-) ASN-162; ARG-223 AND MET-270.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

Fucosyltransferase 3

Cross-references

Sequence databases
EMBL GenBank DDBJ	X53578 mRNA. Translation: CAA37641.1. U27326 mRNA. Translation: AAC50185.1. U27327 mRNA. Translation: AAC50186.1. U27328 mRNA. Translation: AAC50187.1. D89324 Genomic DNA. Translation: BAA13941.1. D89325 Genomic DNA. Translation: BAA13942.1. AF131913 mRNA. Translation: AAD33514.1. FM210024 Genomic DNA. Translation: CAR64692.1. FM210025 Genomic DNA. Translation: CAR64693.1. AY870341 Genomic DNA. Translation: AAW34365.1. AC024592 Genomic DNA. No translation available. BC074836 mRNA. Translation: AAH74836.1. BC074837 mRNA. Translation: AAH74837.1. BC108675 mRNA. Translation: AAI08676.1.
IPI	IPI00007671.
PIR	A36669.
RefSeq	NP_000140.1. NM_000149.3. NP_001091108.1. NM_001097639.1. NP_001091109.1. NM_001097640.1. NP_001091110.1. NM_001097641.1.
UniGene	Hs.169238.
3D structure databases
ProteinModelPortal	P21217.
SMR	P21217. Positions 187-329.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000305603.
Protein family/group databases
CAZy	GT10. Glycosyltransferase Family 10.
PTM databases
PhosphoSite	P21217.
Polymorphism databases
DMDM	121137.
Proteomic databases
PaxDb	P21217.
PRIDE	P21217.
Protocols and materials databases
DNASU	2525.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303225; ENSP00000305603; ENSG00000171124. ENST00000458379; ENSP00000416443; ENSG00000171124. ENST00000589620; ENSP00000465804; ENSG00000171124. ENST00000589918; ENSP00000468123; ENSG00000171124.
GeneID	2525.
KEGG	hsa:2525.
UCSC	uc002mdj.2. human.
Organism-specific databases
CTD	2525.
GeneCards	GC19M005843.
HGNC	HGNC:4014. FUT3.
HPA	HPA046966.
MIM	111100. gene+phenotype.
neXtProt	NX_P21217.
PharmGKB	PA28430.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283180.
HOGENOM	HOG000045583.
HOVERGEN	HBG000274.
InParanoid	P21217.
KO	K00716.
OrthoDB	EOG43R3MW.
Enzyme and pathway databases
BRENDA	2.4.1.65. 2681.
UniPathway	UPA00378.
Gene expression databases
Bgee	P21217.
CleanEx	HS_FUT3.
Genevestigator	P21217.
GermOnline	ENSG00000171124. Homo sapiens.
Family and domain databases
InterPro	IPR001503. Glyco_trans_10. [Graphical view]
PANTHER	PTHR11929. PTHR11929. 1 hit.
Pfam	PF00852. Glyco_transf_10. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL3269.
GenomeRNAi	2525.
NextBio	9943.
SOURCE	Search...

Entry information

Entry name

FUT3_HUMAN

Accession

Primary (citable) accession number: P21217
Secondary accession number(s): B5U7U9 , B5U7V0, Q32NE7, Q99448, Q99449

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 1991
Last sequence update:	May 1, 1991
Last modified:	May 1, 2013
This is version 143 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.