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P19526

- FUT1_HUMAN

UniProt

P19526 - FUT1_HUMAN

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Protein

Galactoside 2-alpha-L-fucosyltransferase 1

Gene
FUT1, H, HSC
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. L-fucose catabolic process Source: UniProtKB
  3. 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 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 namesi
Name:FUT1
Synonyms:H, HSC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:4012. FUT1.

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 – 88Cytoplasmic Reviewed prediction
Transmembranei9 – 2517Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini26 – 365340Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. Golgi cisterna membrane Source: UniProtKB-SubCell
  3. integral component of plasma membrane Source: ProtInc
  4. membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi211100. gene+phenotype.
PharmGKBiPA28428.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 365365Galactoside 2-alpha-L-fucosyltransferase 1PRO_0000149095Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi65 – 651N-linked (GlcNAc...) Reviewed prediction
Glycosylationi327 – 3271N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP19526.
PRIDEiP19526.

PTM databases

PhosphoSiteiP19526.

Expressioni

Gene expression databases

ArrayExpressiP19526.
BgeeiP19526.
CleanExiHS_FUT1.
GenevestigatoriP19526.

Interactioni

Protein-protein interaction databases

BioGridi108799. 1 interaction.
STRINGi9606.ENSP00000312021.

Structurei

3D structure databases

ProteinModelPortaliP19526.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG17447.
HOGENOMiHOG000261621.
HOVERGENiHBG004338.
InParanoidiP19526.
KOiK00718.
OMAiFLHIHQD.
OrthoDBiEOG7C5M8F.
PhylomeDBiP19526.
TreeFamiTF315810.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

P19526-1 [UniParc]FASTAAdd to Basket

« Hide

MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP    50
PVAIFCLPGT AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL 100
ALAQLNGRRA FILPAMHAAL APVFRITLPV LAPEVDSRTP WRELQLHDWM 150
SEEYADLRDP FLKLSGFPCS WTFFHHLREQ IRREFTLHDH LREEAQSVLG 200
QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA YLRQAMDWFR 250
ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC 300
NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV 350
GINADLSPLW TLAKP 365
Length:365
Mass (Da):41,251
Last modified:February 1, 1991 - v1
Checksum:i4F4442EC375C9D9E
GO

Polymorphismi

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121A → V.1 Publication
Corresponds to variant rs2071699 [ dbSNP | Ensembl ].
VAR_022268
Natural varianti148 – 1481D → Y in para-Bombay allele H4. 1 Publication
Corresponds to variant rs56346833 [ dbSNP | Ensembl ].
VAR_020536
Natural varianti154 – 1541Y → C in Bombay H-. 1 Publication
VAR_003417
Natural varianti154 – 1541Y → H in para-Bombay allele H5. 1 Publication
Corresponds to variant rs55678037 [ dbSNP | Ensembl ].
VAR_020537
Natural varianti164 – 1641L → H in para-Bombay. 1 Publication
VAR_009708
Natural varianti171 – 1711W → C in Bombay H-. 1 Publication
VAR_003418
Natural varianti241 – 2411Y → H in para-Bombay allele H3. 1 Publication
Corresponds to variant rs55907428 [ dbSNP | Ensembl ].
VAR_020538
Natural varianti242 – 2421L → R in Bombay H-. 1 Publication
Corresponds to variant rs28934588 [ dbSNP | Ensembl ].
VAR_009709
Natural varianti259 – 2591V → E in Bombay H-. 1 Publication
VAR_003419
Natural varianti315 – 3151A → V in Bombay H-. 1 Publication
VAR_003420
Natural varianti348 – 3481E → K in para-Bombay allele H5. 1 Publication
Corresponds to variant rs56131151 [ dbSNP | Ensembl ].
VAR_020539
Natural varianti349 – 3491W → C in Bombay H-. 1 Publication
VAR_003421

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12733.1.
PIRiA36047.
RefSeqiNP_000139.1. NM_000148.3.
UniGeneiHs.69747.

Genome annotation databases

EnsembliENST00000310160; ENSP00000312021; ENSG00000174951.
GeneIDi2523.
KEGGihsa:2523.
UCSCiuc002pkk.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

Fucosyltransferase 1

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12733.1.
PIRi A36047.
RefSeqi NP_000139.1. NM_000148.3.
UniGenei Hs.69747.

3D structure databases

ProteinModelPortali P19526.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108799. 1 interaction.
STRINGi 9606.ENSP00000312021.

Protein family/group databases

CAZyi GT11. Glycosyltransferase Family 11.

PTM databases

PhosphoSitei P19526.

Proteomic databases

PaxDbi P19526.
PRIDEi P19526.

Protocols and materials databases

DNASUi 2523.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310160 ; ENSP00000312021 ; ENSG00000174951 .
GeneIDi 2523.
KEGGi hsa:2523.
UCSCi uc002pkk.3. human.

Organism-specific databases

CTDi 2523.
GeneCardsi GC19M049251.
HGNCi HGNC:4012. FUT1.
MIMi 211100. gene+phenotype.
neXtProti NX_P19526.
PharmGKBi PA28428.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG17447.
HOGENOMi HOG000261621.
HOVERGENi HBG004338.
InParanoidi P19526.
KOi K00718.
OMAi FLHIHQD.
OrthoDBi EOG7C5M8F.
PhylomeDBi P19526.
TreeFami TF315810.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BRENDAi 2.4.1.69. 2681.

Miscellaneous databases

GeneWikii FUT1.
GenomeRNAii 2523.
NextBioi 9933.
PROi P19526.
SOURCEi Search...

Gene expression databases

ArrayExpressi P19526.
Bgeei P19526.
CleanExi HS_FUT1.
Genevestigatori P19526.

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. "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.

Entry informationi

Entry nameiFUT1_HUMAN
AccessioniPrimary (citable) accession number: P19526
Secondary accession number(s): O14505, O14506, O14507
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 1, 1991
Last modified: July 9, 2014
This is version 136 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

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