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Protein

Galactoside 2-alpha-L-fucosyltransferase 2

Gene

FUT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values.

Catalytic activityi

GDP-beta-L-fucose + beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = GDP + alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.

Pathwayi

GO - Molecular functioni

  • fucosyltransferase activity Source: ProtInc
  • galactoside 2-alpha-L-fucosyltransferase activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • fucosylation Source: GO_Central
  • L-fucose catabolic process Source: UniProtKB
  • protein glycosylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Blood group antigen, Glycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.69. 2681.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT11. Glycosyltransferase Family 11.

Names & Taxonomyi

Protein namesi
Recommended name:
Galactoside 2-alpha-L-fucosyltransferase 2 (EC:2.4.1.69)
Alternative name(s):
Alpha(1,2)FT 2
Fucosyltransferase 2
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2
SE2
Secretor blood group alpha-2-fucosyltransferase
Secretor factor
Short name:
Se
Gene namesi
Name:FUT2
Synonyms:SEC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:4013. FUT2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1414CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei15 – 2814Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini29 – 343315LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • Golgi cisterna membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi182100. gene+phenotype.
612542. phenotype.
PharmGKBiPA28429.

Polymorphism and mutation databases

BioMutaiFUT2.
DMDMi1730125.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 343343Galactoside 2-alpha-L-fucosyltransferase 2PRO_0000012140Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi188 – 1881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi282 – 2821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi308 – 3081N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ10981.
PRIDEiQ10981.

PTM databases

PhosphoSiteiQ10981.

Expressioni

Tissue specificityi

Small intestine, colon and lung.

Gene expression databases

BgeeiQ10981.
CleanExiHS_FUT2.
ExpressionAtlasiQ10981. baseline and differential.
GenevestigatoriQ10981.

Organism-specific databases

HPAiHPA014402.

Interactioni

Protein-protein interaction databases

BioGridi108800. 1 interaction.
IntActiQ10981. 1 interaction.
STRINGi9606.ENSP00000375748.

Structurei

3D structure databases

ProteinModelPortaliQ10981.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 11 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG17447.
GeneTreeiENSGT00390000001450.
HOGENOMiHOG000261621.
HOVERGENiHBG004338.
InParanoidiQ10981.
KOiK00718.
OMAiFSFPMAH.
PhylomeDBiQ10981.
TreeFamiTF315810.

Family and domain databases

InterProiIPR002516. Glyco_trans_11.
[Graphical view]
PANTHERiPTHR11927. PTHR11927. 1 hit.
PfamiPF01531. Glyco_transf_11. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative initiation. AlignAdd to basket

Isoform Long (identifier: Q10981-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLVVQMPFSF PMAHFILFVF TVSTIFHVQQ RLAKIQAMWE LPVQIPVLAS
60 70 80 90 100
TSKALGPSQL RGMWTINAIG RLGNQMGEYA TLYALAKMNG RPAFIPAQMH
110 120 130 140 150
STLAPIFRIT LPVLHSATAS RIPWQNYHLN DWMEEEYRHI PGEYVRFTGY
160 170 180 190 200
PCSWTFYHHL RQEILQEFTL HDHVREEAQK FLRGLQVNGS RPGTFVGVHV
210 220 230 240 250
RRGDYVHVMP KVWKGVVADR RYLQQALDWF RARYSSLIFV VTSNGMAWCR
260 270 280 290 300
ENIDTSHGDV VFAGDGIEGS PAKDFALLTQ CNHTIMTIGT FGIWAAYLTG
310 320 330 340
GDTIYLANYT LPDSPFLKIF KPEAAFLPEW TGIAADLSPL LKH
Length:343
Mass (Da):39,017
Last modified:October 1, 1996 - v1
Checksum:i12066D9CF175E13A
GO
Isoform Short (identifier: Q10981-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Show »
Length:332
Mass (Da):37,740
Checksum:i96DE97ED89807A8A
GO

Sequence cautioni

The sequence BAA11638.1 differs from that shown. Reason: Erroneous initiation. Curated

Polymorphismi

Three alleles have been identified in the Japanese population: Se1, Se2, and Sej.
Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIMi:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251I → V Polymorphism found in Xhosa population. 2 Publications
Corresponds to variant rs1800021 [ dbSNP | Ensembl ].
VAR_003422
Natural varianti138 – 1381R → C Polymorphism found in Xhosa population. 2 Publications
Corresponds to variant rs1800022 [ dbSNP | Ensembl ].
VAR_003423
Natural varianti140 – 1401I → F in allele Sej; non-secretor phenotype. 3 Publications
Corresponds to variant rs1047781 [ dbSNP | Ensembl ].
VAR_003424
Natural varianti172 – 1721D → N Polymorphism found in Xhosa population. 2 Publications
Corresponds to variant rs1800025 [ dbSNP | Ensembl ].
VAR_003425
Natural varianti258 – 2581G → S.1 Publication
Corresponds to variant rs602662 [ dbSNP | Ensembl ].
VAR_022187

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111Missing in isoform Short. CuratedVSP_018736Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U17894 Genomic DNA. Translation: AAC24453.1.
D89327 Genomic DNA. Translation: BAA13944.1.
D87942 mRNA. Translation: BAA21684.1.
AY937240 Genomic DNA. Translation: AAX14047.1.
BC121066 mRNA. No translation available.
D82933 Genomic DNA. Translation: BAA11638.1. Different initiation.
CCDSiCCDS33069.1. [Q10981-1]
PIRiA56098.
RefSeqiNP_000502.4. NM_000511.5. [Q10981-1]
NP_001091107.1. NM_001097638.2. [Q10981-1]
UniGeneiHs.579928.

Genome annotation databases

EnsembliENST00000391876; ENSP00000375748; ENSG00000176920. [Q10981-1]
ENST00000425340; ENSP00000387498; ENSG00000176920. [Q10981-1]
GeneIDi2524.
KEGGihsa:2524.
UCSCiuc002pke.4. human. [Q10981-1]

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

Fucosyltransferase 2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U17894 Genomic DNA. Translation: AAC24453.1.
D89327 Genomic DNA. Translation: BAA13944.1.
D87942 mRNA. Translation: BAA21684.1.
AY937240 Genomic DNA. Translation: AAX14047.1.
BC121066 mRNA. No translation available.
D82933 Genomic DNA. Translation: BAA11638.1. Different initiation.
CCDSiCCDS33069.1. [Q10981-1]
PIRiA56098.
RefSeqiNP_000502.4. NM_000511.5. [Q10981-1]
NP_001091107.1. NM_001097638.2. [Q10981-1]
UniGeneiHs.579928.

3D structure databases

ProteinModelPortaliQ10981.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108800. 1 interaction.
IntActiQ10981. 1 interaction.
STRINGi9606.ENSP00000375748.

Protein family/group databases

CAZyiGT11. Glycosyltransferase Family 11.

PTM databases

PhosphoSiteiQ10981.

Polymorphism and mutation databases

BioMutaiFUT2.
DMDMi1730125.

Proteomic databases

PaxDbiQ10981.
PRIDEiQ10981.

Protocols and materials databases

DNASUi2524.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000391876; ENSP00000375748; ENSG00000176920. [Q10981-1]
ENST00000425340; ENSP00000387498; ENSG00000176920. [Q10981-1]
GeneIDi2524.
KEGGihsa:2524.
UCSCiuc002pke.4. human. [Q10981-1]

Organism-specific databases

CTDi2524.
GeneCardsiGC19P049199.
HGNCiHGNC:4013. FUT2.
HPAiHPA014402.
MIMi182100. gene+phenotype.
612542. phenotype.
neXtProtiNX_Q10981.
PharmGKBiPA28429.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG17447.
GeneTreeiENSGT00390000001450.
HOGENOMiHOG000261621.
HOVERGENiHBG004338.
InParanoidiQ10981.
KOiK00718.
OMAiFSFPMAH.
PhylomeDBiQ10981.
TreeFamiTF315810.

Enzyme and pathway databases

UniPathwayiUPA00378.
BRENDAi2.4.1.69. 2681.

Miscellaneous databases

GeneWikiiFUT2.
GenomeRNAii2524.
NextBioi9937.
PROiQ10981.
SOURCEiSearch...

Gene expression databases

BgeeiQ10981.
CleanExiHS_FUT2.
ExpressionAtlasiQ10981. baseline and differential.
GenevestigatoriQ10981.

Family and domain databases

InterProiIPR002516. Glyco_trans_11.
[Graphical view]
PANTHERiPTHR11927. PTHR11927. 1 hit.
PfamiPF01531. Glyco_transf_11. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype."
    Kelly R.J., Rouquier S., Giorgi D., Lennon G.G., Lowe J.B.
    J. Biol. Chem. 270:4640-4649(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
  2. "Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals."
    Kudo T., Iwasaki H., Nishihara S., Shinya N., Ando T., Narimatsu I., Narimatsu H.
    J. Biol. Chem. 271:9830-9837(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT), VARIANT PHE-140.
  3. "Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2)."
    Koda Y., Soejima M., Wang B., Kimura H.
    Eur. J. Biochem. 246:750-755(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT PHE-140.
  4. SeattleSNPs variation discovery resource
    Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-25; CYS-138; ASN-172 AND SER-258.
  5. "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] (ISOFORM LONG), VARIANT PHE-140.
  6. "Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency."
    Koda Y., Soejima M., Liu Y., Kimura H.
    Am. J. Hum. Genet. 59:343-350(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-343.
  7. "Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa."
    Liu Y., Koda Y., Soejima M., Pang H., Schlaphoff T., du Toit E.D., Kimura H.
    Hum. Genet. 103:204-210(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VAL-25; CYS-138 AND ASN-172.
  8. "Common variants of FUT2 are associated with plasma vitamin B12 levels."
    Hazra A., Kraft P., Selhub J., Giovannucci E.L., Thomas G., Hoover R.N., Chanock S.J., Hunter D.J.
    Nat. Genet. 40:1160-1162(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN B12QTL1.

Entry informationi

Entry nameiFUT2_HUMAN
AccessioniPrimary (citable) accession number: Q10981
Secondary accession number(s): Q0VAG5, Q14338, Q5D0G2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: May 27, 2015
This is version 145 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.