A4GALT
| A4GALT | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | A4GALT, A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK, alpha 1,4-galactosyltransferase, alpha 1,4-galactosyltransferase (P blood group) | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607922; MGI: 3512453; GeneCards: A4GALT | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Lactosylceramide 4-alpha-galactosyltransferase is an enzyme that in humans is encoded by the A4GALT gene.[5][6]
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor.[6]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000128274 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047878 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Keusch JJ, Manzella SM, Nyame KA, Cummings RD, Baenziger JU (September 2000). "Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals". The Journal of Biological Chemistry. 275 (33): 25315–25321. doi:10.1074/jbc.M002630200. PMID 10854428.
- 1 2 "Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)".
Further reading
[edit]- Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, et al. (June 2000). "Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype". The Journal of Biological Chemistry. 275 (22): 16723–16729. doi:10.1074/jbc.M000728200. PMID 10747952.
- Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K, et al. (May 2000). "Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids". The Journal of Biological Chemistry. 275 (20): 15152–15156. doi:10.1074/jbc.M909620199. PMID 10748143.
- Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, et al. (December 2000). "Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals". The Journal of Biological Chemistry. 275 (48): 37752–37756. doi:10.1074/jbc.C000625200. PMID 10993874.
- Furukawa K, Yokoyama K, Sato T, Wiels J, Hirayama Y, Ohta M, et al. (March 2002). "Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins". The Journal of Biological Chemistry. 277 (13): 11247–11254. doi:10.1074/jbc.M109519200. PMID 11782470.
- Koda Y, Soejima M, Sato H, Maeda Y, Kimura H (January 2002). "Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype". Transfusion. 42 (1): 48–51. doi:10.1046/j.1537-2995.2002.00014.x. PMID 11896312. S2CID 36675818.
- Iwamura K, Furukawa K, Uchikawa M, Sojka BN, Kojima Y, Wiels J, et al. (November 2003). "The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle". The Journal of Biological Chemistry. 278 (45): 44429–44438. doi:10.1074/jbc.M301609200. PMID 12888565.
- Hellberg A, Ringressi A, Yahalom V, Säfwenberg J, Reid ME, Olsson ML (May 2004). "Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection". British Journal of Haematology. 125 (4): 528–536. doi:10.1111/j.1365-2141.2004.04930.x. PMID 15142124.
External links
[edit]- A4GALT human gene location in the UCSC Genome Browser.
- A4GALT human gene details in the UCSC Genome Browser.
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