P51993 (FUT6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Alpha-(1,3)-fucosyltransferase
EC=2.4.1.65

Alternative name(s):
Fucosyltransferase 6
Fucosyltransferase VI
Short name=Fuc-TVI
Short name=FucT-VI
Galactoside 3-L-fucosyltransferase

Gene names

Name:	FUT6
Synonyms:	FCT3A

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	359 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP-beta-fucose to alpha-2,3 sialylated substrates.
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	Kidney, liver, colon, small intestine, bladder, uterus and salivary gland.
Polymorphism	Expression of alpha(1,3)-fucosyltransferase in plasma can vary among different populations. 9% of individuals on the isle of Java (Indonesia) do not express this enzyme. Ninety-five percent of plasma alpha(1,3)-fucosyltransferase-deficient individuals have Lewis negative phenotype on red cells, suggesting strong linkage disequilibrium between these two traits. Variations in FUT6 are responsible for plasma alpha(1,3)-fucosyltransferase deficiency [MIM:613852].
Sequence similarities	Belongs to the glycosyltransferase 10 family.
Sequence caution	The sequence AAC50191.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	L-fucose catabolic process Non-traceable author statement PubMed 11698403. Source: UniProtKB protein glycosylation Traceable author statement PubMed 11698403. Source: UniProtKB
Cellular_component	Golgi apparatus Traceable author statement PubMed 11698403. Source: UniProtKB Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity Inferred from electronic annotation. Source: EC alpha-(1->3)-fucosyltransferase activity Traceable author statement PubMed 11698403. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P51993-1)

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 2 (identifier: P51993-2)

The sequence of this isoform differs from the canonical sequence as follows:
     348-359: RYQTRGIAAWFT → SGGLIYLRTRLPEASPA

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 359	359	Alpha-(1,3)-fucosyltransferase		PRO_0000221110
Regions
	Topological domain	1 – 14	14	Cytoplasmic Potential
	Transmembrane	15 – 34	20	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	35 – 359	325	Lumenal Potential
Amino acid modifications
	Glycosylation	46	1	N-linked (GlcNAc...) Potential
	Glycosylation	91	1	N-linked (GlcNAc...) Potential
	Glycosylation	153	1	N-linked (GlcNAc...) Potential
	Glycosylation	184	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	348 – 359	12	RYQTR…AAWFT → SGGLIYLRTRLPEASPA in isoform 2.		VSP_001780
	Natural variant	124	1	P → S Found in alpha(1,3)-fucosyltransferase-deficient individuals; results in partial enzyme inactivation; complete enzyme inactivation when associated with V-244 and G-303. Ref.4 Ref.8 Corresponds to variant rs778805 [ dbSNP | Ensembl ].		VAR_024463
	Natural variant	230	1	Q → K. Corresponds to variant rs364637 [ dbSNP | Ensembl ].		VAR_024464
	Natural variant	244	1	L → V Found in alpha(1,3)-fucosyltransferase-deficient individuals; complete enzyme inactivation when associated with S-124 and G-303. Ref.8		VAR_065915
	Natural variant	247	1	E → K Found in alpha(1,3)-fucosyltransferase-deficient individuals; complete enzyme inactivation. Ref.7 Ref.8 Corresponds to variant rs17855739 [ dbSNP | Ensembl ].		VAR_065916
	Natural variant	303	1	R → G Found in alpha(1,3)-fucosyltransferase-deficient individuals; complete enzyme inactivation when associated with S-124 and V-244. Ref.8 Corresponds to variant rs61147939 [ dbSNP | Ensembl ].		VAR_065917

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 67ABDF058F0999DA	FASTA	359	41,860
	10 20 30 40 50 60 MDPLGPAKPQ WSWRCCLTTL LFQLLMAVCF FSYLRVSQDD PTVYPNGSRF PDSTGTPAHS 70 80 90 100 110 120 IPLILLWTWP FNKPIALPRC SEMVPGTADC NITADRKVYP QADAVIVHHR EVMYNPSAQL 130 140 150 160 170 180 PRSPRRQGQR WIWFSMESPS HCWQLKAMDG YFNLTMSYRS DSDIFTPYGW LEPWSGQPAH 190 200 210 220 230 240 PPLNLSAKTE LVAWAVSNWG PNSARVRYYQ SLQAHLKVDV YGRSHKPLPQ GTMMETLSRY 250 260 270 280 290 300 KFYLAFENSL HPDYITEKLW RNALEAWAVP VVLGPSRSNY ERFLPPDAFI HVDDFQSPKD 310 320 330 340 350 LARYLQELDK DHARYLSYFR WRETLRPRSF SWALAFCKAC WKLQEESRYQ TRGIAAWFT
	Isoform 2 [UniParc]. Checksum: BD0B020AB1580EEF	FASTA	364	42,191
	10 20 30 40 50 60 MDPLGPAKPQ WSWRCCLTTL LFQLLMAVCF FSYLRVSQDD PTVYPNGSRF PDSTGTPAHS 70 80 90 100 110 120 IPLILLWTWP FNKPIALPRC SEMVPGTADC NITADRKVYP QADAVIVHHR EVMYNPSAQL 130 140 150 160 170 180 PRSPRRQGQR WIWFSMESPS HCWQLKAMDG YFNLTMSYRS DSDIFTPYGW LEPWSGQPAH 190 200 210 220 230 240 PPLNLSAKTE LVAWAVSNWG PNSARVRYYQ SLQAHLKVDV YGRSHKPLPQ GTMMETLSRY 250 260 270 280 290 300 KFYLAFENSL HPDYITEKLW RNALEAWAVP VVLGPSRSNY ERFLPPDAFI HVDDFQSPKD 310 320 330 340 350 360 LARYLQELDK DHARYLSYFR WRETLRPRSF SWALAFCKAC WKLQEESSGG LIYLRTRLPE ASPA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The cloning and expression of a human alpha-1,3 fucosyltransferase capable of forming the E-selectin ligand." Koszdin K.L., Bowen B.R. Biochem. Biophys. Res. Commun. 187:152-157(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Molecular cloning of a fourth member of a human alpha (1,3)fucosyltransferase gene family. Multiple homologous sequences that determine expression of the Lewis x, sialyl Lewis x, and difucosyl sialyl Lewis x epitopes." Weston B.W., Smith P.L., Kelly R.J., Lowe J.B. J. Biol. Chem. 267:24575-24584(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[3]	"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] (ISOFORMS 1 AND 2). Tissue: Kidney.
[4]	"Isolation and expression of human alpha-(1,3)-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] (ISOFORM 1), VARIANT SER-124. Tissue: Squamous cell carcinoma.
[5]	"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].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"Molecular basis for plasma alpha(1,3)-fucosyltransferase gene deficiency (FUT6)." Mollicone R., Reguigne I., Fletcher A., Aziz A., Rustam M., Weston B.W., Kelly R.J., Lowe J.B., Oriol R. J. Biol. Chem. 269:12662-12671(1994) [PubMed] [Europe PMC] [Abstract] Cited for: POLYMORPHISM, VARIANT LYS-247, CHARACTERIZATION OF VARIANT LYS-247.
[8]	"Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles." Elmgren A., Borjeson C., Mollicone R., Oriol R., Fletcher A., Larson G. Hum. Mutat. 16:473-481(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-124; VAL-244; LYS-247 AND GLY-303, CHARACTERIZATION OF VARIANTS SER-124; VAL-244; LYS-247 AND GLY-303.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Fucosyltransferase 6

Cross-references

Sequence databases
EMBL GenBank DDBJ	M98825 mRNA. Translation: AAA99222.1. L01698 Genomic DNA. Translation: AAB03078.1. U27331 mRNA. Translation: AAC50190.1. U27332 mRNA. Translation: AAC50191.1. Sequence problems. U27333 mRNA. Translation: AAC50192.1. U27334 mRNA. Translation: AAC50193.1. U27335 mRNA. Translation: AAC50194.1. U27336 mRNA. Translation: AAC50195.1. U27337 mRNA. Translation: AAC50196.1. AF131211 mRNA. Translation: AAD33509.1. AL031258 Genomic DNA. No translation available. CH471139 Genomic DNA. Translation: EAW69136.1. CH471139 Genomic DNA. Translation: EAW69137.1. CH471139 Genomic DNA. Translation: EAW69138.1. CH471139 Genomic DNA. Translation: EAW69139.1.
IPI	IPI00021384. IPI00414138.
PIR	A45156. I39048. I39049.
RefSeq	NP_000141.1. NM_000150.2. NP_001035791.1. NM_001040701.1.
UniGene	Hs.631846. Hs.705615.
3D structure databases
ProteinModelPortal	P51993.
SMR	P51993. Positions 186-328.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000286955.
Protein family/group databases
CAZy	GT10. Glycosyltransferase Family 10.
PTM databases
PhosphoSite	P51993.
Polymorphism databases
DMDM	1730136.
Proteomic databases
PaxDb	P51993.
PRIDE	P51993.
Protocols and materials databases
DNASU	2528.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000286955; ENSP00000286955; ENSG00000156413. ENST00000318336; ENSP00000313398; ENSG00000156413. ENST00000524754; ENSP00000431708; ENSG00000156413. ENST00000527106; ENSP00000432954; ENSG00000156413. ENST00000592563; ENSP00000466016; ENSG00000156413.
GeneID	2528.
KEGG	hsa:2528.
UCSC	uc002mdf.1. human.
Organism-specific databases
CTD	2528.
GeneCards	GC19M005830.
HGNC	HGNC:4017. FUT6.
HPA	HPA046966.
MIM	136836. gene. 613852. phenotype.
neXtProt	NX_P51993.
PharmGKB	PA28433.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283180.
HOGENOM	HOG000045583.
HOVERGEN	HBG000274.
KO	K07634.
Enzyme and pathway databases
BRENDA	2.4.1.65. 2681.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	P51993.
Bgee	P51993.
CleanEx	HS_FUT6.
Genevestigator	P51993.
GermOnline	ENSG00000156413. 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
BindingDB	P51993.
ChEMBL	CHEMBL4443.
GenomeRNAi	2528.
NextBio	9961.
SOURCE	Search...

Entry information

Entry name

FUT6_HUMAN

Accession

Primary (citable) accession number: P51993
Secondary accession number(s): A6NEX0, D6W637, Q9UND8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	May 1, 2013
This is version 120 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.