Fucosyltransferase 3
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Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
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| Identifiers | ||||||||||||||
| Symbol(s) | FUT3; CD174; LE; Les; MGC131739 | |||||||||||||
| External IDs | OMIM: 111100 HomoloGene: 55438 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 2525 | n/a | ||||||||||||
| Ensembl | ENSG00000171124 | n/a | ||||||||||||
| Uniprot | P21217 | n/a | ||||||||||||
| Refseq | NM_000149 (mRNA) NP_000140 (protein) |
n/a (mRNA) n/a (protein) |
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| Location | Chr 19: 5.79 - 5.8 Mb | n/a | ||||||||||||
| Pubmed search | [1] | n/a | ||||||||||||
Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group), also known as FUT3, is a human gene.[1]
The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Weston BW, Nair RP, Larsen RD, Lowe JB (1992). "Isolation of a novel human alpha (1,3)fucosyltransferase gene and molecular comparison to the human Lewis blood group alpha (1,3/1,4)fucosyltransferase gene. Syntenic, homologous, nonallelic genes encoding enzymes with distinct acceptor substrate specificities.". J. Biol. Chem. 267 (6): 4152–60. PMID 1740457.
- Kukowska-Latallo JF, Larsen RD, Nair RP, Lowe JB (1990). "A cloned human cDNA determines expression of a mouse stage-specific embryonic antigen and the Lewis blood group alpha(1,3/1,4)fucosyltransferase.". Genes Dev. 4 (8): 1288–303. PMID 1977660.
- Cameron HS, Szczepaniak D, Weston BW (1995). "Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms.". J. Biol. Chem. 270 (34): 20112–22. PMID 7650030.
- Reguigne-Arnould I, Couillin P, Mollicone R, et al. (1995). "Relative positions of two clusters of human alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome 19.". Cytogenet. Cell Genet. 71 (2): 158–62. PMID 7656588.
- Nishihara S, Nakazato M, Kudo T, et al. (1993). "Human alpha-1,3 fucosyltransferase (FucT-VI) gene is located at only 13 kb 3' to the Lewis type fucosyltransferase (FucT-III) gene on chromosome 19.". Biochem. Biophys. Res. Commun. 190 (1): 42–6. doi:. PMID 7916594.
- Nishihara S, Narimatsu H, Iwasaki H, et al. (1994). "Molecular genetic analysis of the human Lewis histo-blood group system.". J. Biol. Chem. 269 (46): 29271–8. PMID 7961897.
- Mollicone R, Reguigne I, Kelly RJ, et al. (1994). "Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees.". J. Biol. Chem. 269 (33): 20987–94. PMID 8063716.
- Koda Y, Kimura H, Mekada E (1993). "Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals.". Blood 82 (9): 2915–9. PMID 8219240.
- Elmgren A, Rydberg L, Larson G (1993). "Genotypic heterogeneity among Lewis negative individuals.". Biochem. Biophys. Res. Commun. 196 (2): 515–20. doi:. PMID 8240322.
- Nishihara S, Yazawa S, Iwasaki H, et al. (1993). "Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals.". Biochem. Biophys. Res. Commun. 196 (2): 624–31. doi:. PMID 8240337.
- Elmgren A, Börjeson C, Svensson L, et al. (1996). "DNA sequencing and screening for point mutations in the human Lewis (FUT3) gene enables molecular genotyping of the human Lewis blood group system.". Vox Sang. 70 (2): 97–103. PMID 8801770.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
- Orntoft TF, Vestergaard EM, Holmes E, et al. (1997). "Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels.". J. Biol. Chem. 271 (50): 32260–8. PMID 8943285.
- Elmgren A, Mollicone R, Costache M, et al. (1997). "Significance of individual point mutations, T202C and C314T, in the human Lewis (FUT3) gene for expression of Lewis antigens by the human alpha(1,3/1,4)-fucosyltransferase, Fuc-TIII.". J. Biol. Chem. 272 (35): 21994–8. PMID 9268337.
- Pang H, Liu Y, Koda Y, et al. (1998). "Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa.". Hum. Genet. 102 (6): 675–80. PMID 9703429.
- Nishihara S, Hiraga T, Ikehara Y, et al. (1999). "Molecular behavior of mutant Lewis enzymes in vivo.". Glycobiology 9 (4): 373–82. PMID 10089211.
- Yazawa S, Tanaka S, Nishimura T, et al. (1999). "Plasma alpha1,3-fucosyltransferase deficiency in schizophrenia.". Exp. Clin. Immunogenet. 16 (3): 125–30. PMID 10394050.
- Holmes EH, Yen TY, Thomas S, et al. (2000). "Human alpha 1,3/4 fucosyltransferases. Characterization of highly conserved cysteine residues and N-linked glycosylation sites.". J. Biol. Chem. 275 (32): 24237–45. doi:. PMID 10816554.
- Grahn A, Elmgren A, Aberg L, et al. (2002). "Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples.". Hum. Mutat. 18 (4): 358–9. doi:. PMID 11668626.
- Roos C, Kolmer M, Mattila P, Renkonen R (2002). "Composition of Drosophila melanogaster proteome involved in fucosylated glycan metabolism.". J. Biol. Chem. 277 (5): 3168–75. doi:. PMID 11698403.
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