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P19526 (FUT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Galactoside 2-alpha-L-fucosyltransferase 1

EC=2.4.1.69
Alternative name(s):
Alpha(1,2)FT 1
Blood group H alpha 2-fucosyltransferase
Fucosyltransferase 1
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1
Gene names
Name:FUT1
Synonyms:H, HSC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length365 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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 activity

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.

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.

Polymorphism

Nonfunctional mutant of FUT1 are the cause of the H-Bombay blood group.

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.

Sequence similarities

Belongs to the glycosyltransferase 11 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 365365Galactoside 2-alpha-L-fucosyltransferase 1
PRO_0000149095

Regions

Topological domain1 – 88Cytoplasmic Potential
Transmembrane9 – 2517Helical; Signal-anchor for type II membrane protein; Potential
Topological domain26 – 365340Lumenal Potential

Amino acid modifications

Glycosylation651N-linked (GlcNAc...) Potential
Glycosylation3271N-linked (GlcNAc...) Potential

Natural variations

Natural variant121A → V. Ref.4
Corresponds to variant rs2071699 [ dbSNP | Ensembl ].
VAR_022268
Natural variant1481D → Y in para-Bombay allele H4. Ref.3
Corresponds to variant rs56346833 [ dbSNP | Ensembl ].
VAR_020536
Natural variant1541Y → C in Bombay H-. Ref.2
VAR_003417
Natural variant1541Y → H in para-Bombay allele H5. Ref.3
Corresponds to variant rs55678037 [ dbSNP | Ensembl ].
VAR_020537
Natural variant1641L → H in para-Bombay. Ref.6
VAR_009708
Natural variant1711W → C in Bombay H-. Ref.2
VAR_003418
Natural variant2411Y → H in para-Bombay allele H3. Ref.3
Corresponds to variant rs55907428 [ dbSNP | Ensembl ].
VAR_020538
Natural variant2421L → R in Bombay H-. Ref.7
Corresponds to variant rs28934588 [ dbSNP | Ensembl ].
VAR_009709
Natural variant2591V → E in Bombay H-. Ref.2
VAR_003419
Natural variant3151A → V in Bombay H-. Ref.2
VAR_003420
Natural variant3481E → K in para-Bombay allele H5. Ref.3
Corresponds to variant rs56131151 [ dbSNP | Ensembl ].
VAR_020539
Natural variant3491W → C in Bombay H-. Ref.2
VAR_003421

Sequences

Sequence LengthMass (Da)Tools
P19526 [UniParc].

Last modified February 1, 1991. Version 1.
Checksum: 4F4442EC375C9D9E

FASTA36541,251
        10         20         30         40         50         60 
MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP PVAIFCLPGT 

        70         80         90        100        110        120 
AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL ALAQLNGRRA FILPAMHAAL 

       130        140        150        160        170        180 
APVFRITLPV LAPEVDSRTP WRELQLHDWM SEEYADLRDP FLKLSGFPCS WTFFHHLREQ 

       190        200        210        220        230        240 
IRREFTLHDH LREEAQSVLG QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA 

       250        260        270        280        290        300 
YLRQAMDWFR ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC 

       310        320        330        340        350        360 
NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV GINADLSPLW 


TLAKP 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen."
Larsen R.D., Ernst L.K., Nair R.P., Lowe J.B.
Proc. Natl. Acad. Sci. U.S.A. 87:6674-6678(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles."
Wagner F.F., Flegel W.A.
Transfusion 37:284-290(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS BOMBAY CYS-154; CYS-171; GLU-259; VAL-315 AND CYS-349.
[3]"Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals which inactivate H enzyme."
Kaneko M., Nishihara S., Shinya N., Kudo T., Iwasaki H., Seno T., Okubo Y., Narimatsu H.
Blood 90:839-849(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PARA-BOMBAY TYR-148; HIS-154; HIS-241 AND LYS-348.
[4]SeattleSNPs variation discovery resource
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-12.
[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].
Tissue: Brain.
[6]"Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals."
Kelly R.J., Ernst L.K., Larsen R.D., Bryant J.G., Robinson J.S., Lowe J.B.
Proc. Natl. Acad. Sci. U.S.A. 91:5843-5847(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PARA-BOMBAY HIS-164.
[7]"Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system."
Koda Y., Soejima M., Johnson P.H., Smart E., Kimura H.
Biochem. Biophys. Res. Commun. 238:21-25(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BOMBAY ARG-242.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

Fucosyltransferase 1

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M35531 mRNA. Translation: AAA52639.1.
Z69587 Genomic DNA. Translation: CAA93435.1.
AB004861 Genomic DNA. Translation: BAA20558.1.
AB004862 Genomic DNA. Translation: BAA20559.1.
AB004863 Genomic DNA. Translation: BAA20560.1.
AY923051 Genomic DNA. Translation: AAW82437.1.
BC074732 mRNA. Translation: AAH74732.1.
PIRA36047.
RefSeqNP_000139.1. NM_000148.3.
UniGeneHs.69747.

3D structure databases

ProteinModelPortalP19526.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108799. 1 interaction.
STRING9606.ENSP00000312021.

Protein family/group databases

CAZyGT11. Glycosyltransferase Family 11.

PTM databases

PhosphoSiteP19526.

Proteomic databases

PaxDbP19526.
PRIDEP19526.

Protocols and materials databases

DNASU2523.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310160; ENSP00000312021; ENSG00000174951.
GeneID2523.
KEGGhsa:2523.
UCSCuc002pkk.3. human.

Organism-specific databases

CTD2523.
GeneCardsGC19M049251.
HGNCHGNC:4012. FUT1.
MIM211100. gene+phenotype.
neXtProtNX_P19526.
PharmGKBPA28428.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG17447.
HOGENOMHOG000261621.
HOVERGENHBG004338.
InParanoidP19526.
KOK00718.
OMAFLHIHQD.
OrthoDBEOG7C5M8F.
PhylomeDBP19526.
TreeFamTF315810.

Enzyme and pathway databases

BRENDA2.4.1.69. 2681.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressP19526.
BgeeP19526.
CleanExHS_FUT1.
GenevestigatorP19526.

Family and domain databases

InterProIPR002516. Glyco_trans_11.
[Graphical view]
PANTHERPTHR11927. PTHR11927. 1 hit.
PfamPF01531. Glyco_transf_11. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFUT1.
GenomeRNAi2523.
NextBio9933.
PROP19526.
SOURCESearch...

Entry information

Entry nameFUT1_HUMAN
AccessionPrimary (citable) accession number: P19526
Secondary accession number(s): O14505, O14506, O14507
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 1, 1991
Last modified: April 16, 2014
This is version 135 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

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries