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Q10981

- FUT2_HUMAN

UniProt

Q10981 - FUT2_HUMAN

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Protein

Galactoside 2-alpha-L-fucosyltransferase 2

Gene

FUT2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. fucosyltransferase activity Source: ProtInc
  2. galactoside 2-alpha-L-fucosyltransferase activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. fucosylation Source: GOC
  3. L-fucose catabolic process Source: UniProtKB
  4. protein glycosylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Blood group antigen, Glycosyltransferase, Transferase

Enzyme and pathway databases

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: Chromosome 19

Organism-specific databases

HGNCiHGNC:4013. FUT2.

Subcellular locationi

Golgi apparatusGolgi stack membrane; Single-pass type II membrane protein
Note: Membrane-bound form in trans cisternae of Golgi.

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

  1. extracellular vesicular exosome Source: UniProt
  2. Golgi apparatus Source: UniProtKB
  3. 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.

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

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. Align

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]

Polymorphism databases

DMDMi1730125.

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.
CCDSi CCDS33069.1. [Q10981-1 ]
PIRi A56098.
RefSeqi NP_000502.4. NM_000511.5. [Q10981-1 ]
NP_001091107.1. NM_001097638.2. [Q10981-1 ]
UniGenei Hs.579928.

3D structure databases

ProteinModelPortali Q10981.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q10981. 1 interaction.
STRINGi 9606.ENSP00000375748.

Protein family/group databases

CAZyi GT11. Glycosyltransferase Family 11.

PTM databases

PhosphoSitei Q10981.

Polymorphism databases

DMDMi 1730125.

Proteomic databases

PaxDbi Q10981.
PRIDEi Q10981.

Protocols and materials databases

DNASUi 2524.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000391876 ; ENSP00000375748 ; ENSG00000176920 . [Q10981-1 ]
ENST00000425340 ; ENSP00000387498 ; ENSG00000176920 . [Q10981-1 ]
GeneIDi 2524.
KEGGi hsa:2524.
UCSCi uc002pke.4. human. [Q10981-1 ]

Organism-specific databases

CTDi 2524.
GeneCardsi GC19P049199.
HGNCi HGNC:4013. FUT2.
HPAi HPA014402.
MIMi 182100. gene+phenotype.
612542. phenotype.
neXtProti NX_Q10981.
PharmGKBi PA28429.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG17447.
GeneTreei ENSGT00390000001450.
HOGENOMi HOG000261621.
HOVERGENi HBG004338.
InParanoidi Q10981.
KOi K00718.
OMAi FSFPMAH.
PhylomeDBi Q10981.
TreeFami TF315810.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

GeneWikii FUT2.
GenomeRNAii 2524.
NextBioi 9937.
PROi Q10981.
SOURCEi Search...

Gene expression databases

Bgeei Q10981.
CleanExi HS_FUT2.
ExpressionAtlasi Q10981. baseline and differential.
Genevestigatori Q10981.

Family and domain databases

InterProi IPR002516. Glyco_trans_11.
[Graphical view ]
PANTHERi PTHR11927. PTHR11927. 1 hit.
Pfami PF01531. Glyco_transf_11. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 139 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