Fucosyltransferase 3
From Wikipedia, the free encyclopedia
Protein and coding gene in humans
| FUT3 | ||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FUT3 , CD174, FT3B, FucT-III, LE, Les, Fucosyltransferase 3, fucosyltransferase 3 (Lewis blood group) | |||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | HomoloGene: 128031; GeneCards: FUT3; OMA:FUT3 - orthologs | |||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||
Galactoside 3(4)-L-fucosyltransferase is an enzyme that, in humans, is encoded by the FUT3 gene.[3] [4] [5]
Function
[edit ]The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids synthesized by exocrine epithelial cells and circulating in body fluids. These glycosphingolipids play essential roles in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed onto red blood cells, giving rise to the Lewis phenotype.
This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides during the final step of Lewis antigen biosynthesis. It encodes an enzyme with both alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for most Lewis antigen-negative phenotypes. Multiple alternatively spliced variants encoding the same protein have been identified for this gene.[5]
See also
[edit ]References
[edit ]- ^ a b c GRCh38: Ensembl release 89: ENSG00000171124 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Kukowska-Latallo JF, Larsen RD, Nair RP, Lowe JB (August 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 & Development. 4 (8): 1288–1303. doi:10.1101/gad.4.8.1288 . PMID 1977660.
- ^ Weston BW, Nair RP, Larsen RD, Lowe JB (February 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". The Journal of Biological Chemistry. 267 (6): 4152–4160. doi:10.1016/S0021-9258(19)50641-X . PMID 1740457.
- ^ a b "Entrez Gene: FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)".
Further reading
[edit ]- Cameron HS, Szczepaniak D, Weston BW (Aug 1995). "Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms". The Journal of Biological Chemistry. 270 (34): 20112–22. doi:10.1074/jbc.270.34.20112 . PMID 7650030.
- Reguigne-Arnould I, Couillin P, Mollicone R, Fauré S, Fletcher A, Kelly RJ, Lowe JB, Oriol R (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". Cytogenetics and Cell Genetics. 71 (2): 158–62. doi:10.1159/000134098. PMID 7656588.
- Nishihara S, Nakazato M, Kudo T, Kimura H, Ando T, Narimatsu H (Jan 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". Biochemical and Biophysical Research Communications. 190 (1): 42–6. doi:10.1006/bbrc.1993.1008. PMID 7916594.
- Nishihara S, Narimatsu H, Iwasaki H, Yazawa S, Akamatsu S, Ando T, Seno T, Narimatsu I (Nov 1994). "Molecular genetic analysis of the human Lewis histo-blood group system". The Journal of Biological Chemistry. 269 (46): 29271–8. doi:10.1016/S0021-9258(19)62041-7 . PMID 7961897.
- Mollicone R, Reguigne I, Kelly RJ, Fletcher A, Watt J, Chatfield S, Aziz A, Cameron HS, Weston BW, Lowe JB (Aug 1994). "Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees". The Journal of Biological Chemistry. 269 (33): 20987–94. doi:10.1016/S0021-9258(17)31919-1 . PMID 8063716.
- Koda Y, Kimura H, Mekada E (Nov 1993). "Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals". Blood. 82 (9): 2915–9. doi:10.1182/blood.V82.9.2915.2915 . PMID 8219240.
- Elmgren A, Rydberg L, Larson G (Oct 1993). "Genotypic heterogeneity among Lewis negative individuals". Biochemical and Biophysical Research Communications. 196 (2): 515–20. doi:10.1006/bbrc.1993.2280. PMID 8240322.
- Nishihara S, Yazawa S, Iwasaki H, Nakazato M, Kudo T, Ando T, Narimatsu H (Oct 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". Biochemical and Biophysical Research Communications. 196 (2): 624–31. doi:10.1006/bbrc.1993.2295. PMID 8240337.
- Elmgren A, Börjeson C, Svensson L, Rydberg L, Larson G (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 Sanguinis. 70 (2): 97–103. doi:10.1111/j.1423-0410.1996.tb01300.x. PMID 8801770. S2CID 42984604.
- Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791 . PMID 8889548.
- Orntoft TF, Vestergaard EM, Holmes E, Jakobsen JS, Grunnet N, Mortensen M, Johnson P, Bross P, Gregersen N, Skorstengaard K, Jensen UB, Bolund L, Wolf H (Dec 1996). "Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels". The Journal of Biological Chemistry. 271 (50): 32260–8. doi:10.1074/jbc.271.50.32260 . PMID 8943285.
- Elmgren A, Mollicone R, Costache M, Börjeson C, Oriol R, Harrington J, Larson G (Aug 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". The Journal of Biological Chemistry. 272 (35): 21994–8. doi:10.1074/jbc.272.35.21994 . PMID 9268337.
- Pang H, Liu Y, Koda Y, Soejima M, Jia J, Schlaphoff T, Du Toit ED, Kimura H (Jun 1998). "Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa". Human Genetics. 102 (6): 675–80. doi:10.1007/s004390050760. PMID 9703429. S2CID 12651016.
- Nishihara S, Hiraga T, Ikehara Y, Iwasaki H, Kudo T, Yazawa S, Morozumi K, Suda Y, Narimatsu H (Apr 1999). "Molecular behavior of mutant Lewis enzymes in vivo". Glycobiology. 9 (4): 373–82. doi:10.1093/glycob/9.4.373 . PMID 10089211.
- Yazawa S, Tanaka S, Nishimura T, Miyanaga K, Kochibe N (1999). "Plasma alpha1,3-fucosyltransferase deficiency in schizophrenia". Experimental and Clinical Immunogenetics. 16 (3): 125–30. doi:10.1159/000019104. PMID 10394050. S2CID 85281056.
- Holmes EH, Yen TY, Thomas S, Joshi R, Nguyen A, Long T, Gallet F, Maftah A, Julien R, Macher BA (Aug 2000). "Human alpha 1,3/4 fucosyltransferases. Characterization of highly conserved cysteine residues and N-linked glycosylation sites". The Journal of Biological Chemistry. 275 (32): 24237–45. doi:10.1074/jbc.M000888200 . PMID 10816554.
- Grahn A, Elmgren A, Aberg L, Svensson L, Jansson PA, Lönnroth P, Larson G (Oct 2001). "Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples". Human Mutation. 18 (4): 358–9. doi:10.1002/humu.1204. PMID 11668626. S2CID 33547478.
- Roos C, Kolmer M, Mattila P, Renkonen R (Feb 2002). "Composition of Drosophila melanogaster proteome involved in fucosylated glycan metabolism". The Journal of Biological Chemistry. 277 (5): 3168–75. doi:10.1074/jbc.M107927200 . PMID 11698403.
External links
[edit ]- CD174+Antigen at the U.S. National Library of Medicine Medical Subject Headings (MeSH)