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P51993 (FUT6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alpha-(1,3)-fucosyltransferase 6

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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length359 AA.
Sequence statusComplete.
Protein existenceEvidence 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 apparatusGolgi 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 359359Alpha-(1,3)-fucosyltransferase 6
PRO_0000221110

Regions

Topological domain1 – 1414Cytoplasmic Potential
Transmembrane15 – 3420Helical; Signal-anchor for type II membrane protein; Potential
Topological domain35 – 359325Lumenal Potential

Amino acid modifications

Glycosylation461N-linked (GlcNAc...) Potential
Glycosylation911N-linked (GlcNAc...) Potential
Glycosylation1531N-linked (GlcNAc...) Potential
Glycosylation1841N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence348 – 35912RYQTR…AAWFT → SGGLIYLRTRLPEASPA in isoform 2.
VSP_001780
Natural variant1241P → 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 variant2301Q → K.
Corresponds to variant rs364637 [ dbSNP | Ensembl ].
VAR_024464
Natural variant2441L → 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 variant2471E → 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 variant3031R → 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 LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 67ABDF058F0999DA

FASTA35941,860
        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 

« Hide

Isoform 2 [UniParc].

Checksum: BD0B020AB1580EEF
Show »

FASTA36442,191

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS12152.1. [P51993-1]
PIRA45156.
I39048.
I39049.
RefSeqNP_000141.1. NM_000150.2. [P51993-1]
NP_001035791.1. NM_001040701.1. [P51993-1]
XP_005259583.1. XM_005259526.2. [P51993-1]
UniGeneHs.631846.
Hs.705615.

3D structure databases

ProteinModelPortalP51993.
SMRP51993. Positions 187-324.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000286955.

Chemistry

BindingDBP51993.
ChEMBLCHEMBL4443.

Protein family/group databases

CAZyGT10. Glycosyltransferase Family 10.

PTM databases

PhosphoSiteP51993.

Polymorphism databases

DMDM1730136.

Proteomic databases

MaxQBP51993.
PaxDbP51993.
PRIDEP51993.

Protocols and materials databases

DNASU2528.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286955; ENSP00000286955; ENSG00000156413. [P51993-1]
ENST00000318336; ENSP00000313398; ENSG00000156413. [P51993-1]
ENST00000524754; ENSP00000431708; ENSG00000156413. [P51993-1]
ENST00000527106; ENSP00000432954; ENSG00000156413. [P51993-1]
ENST00000592563; ENSP00000466016; ENSG00000156413. [P51993-2]
GeneID2528.
KEGGhsa:2528.
UCSCuc002mdf.1. human. [P51993-1]

Organism-specific databases

CTD2528.
GeneCardsGC19M005830.
HGNCHGNC:4017. FUT6.
HPAHPA046966.
MIM136836. gene.
613852. phenotype.
neXtProtNX_P51993.
PharmGKBPA28433.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283180.
HOGENOMHOG000045583.
HOVERGENHBG000274.
KOK07634.
OMANSARVRY.
OrthoDBEOG78H3T8.
PhylomeDBP51993.
TreeFamTF316348.

Enzyme and pathway databases

BRENDA2.4.1.65. 2681.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressP51993.
BgeeP51993.
CleanExHS_FUT6.
GenevestigatorP51993.

Family and domain databases

InterProIPR001503. Glyco_trans_10.
[Graphical view]
PANTHERPTHR11929. PTHR11929. 1 hit.
PfamPF00852. Glyco_transf_10. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFUT6.
GenomeRNAi2528.
NextBio9961.
PROP51993.
SOURCESearch...

Entry information

Entry nameFUT6_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM