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Protein-coding gene in the species Homo sapiens
A4GALT Identifiers Aliases A4GALT External IDs OMIM : 607922 ; MGI : 3512453 ; HomoloGene : 9690 ; GeneCards : A4GALT ; OMA :A4GALT - orthologs EC number 2.4.1.228 Wikidata
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000128274 – Ensembl , May 2017^ a b c 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 (Sep 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" . J Biol Chem . 275 (33): 25315–21. doi :10.1074/jbc.M002630200 PMID 10854428 . ^ a b "Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)" .
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95. Bibcode :1999Natur.402..489D . doi :10.1038/990031 PMID 10591208 . Steffensen R, Carlier K, Wiels J, et al. (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" . J. Biol. Chem . 275 (22): 16723–9. doi :10.1074/jbc.M000728200 PMID 10747952 . Kojima Y, Fukumoto S, Furukawa K, et al. (2000). "Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids" . J. Biol. Chem . 275 (20): 15152–6. doi :10.1074/jbc.M909620199 PMID 10748143 . Furukawa K, Iwamura K, Uchikawa M, et al. (2001). "Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals" . J. Biol. Chem . 275 (48): 37752–6. doi :10.1074/jbc.C000625200 PMID 10993874 . Furukawa K, Yokoyama K, Sato T, et al. (2002). "Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins" . J. Biol. Chem . 277 (13): 11247–54. doi :10.1074/jbc.M109519200 PMID 11782470 . Koda Y, Soejima M, Sato H, et al. (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 . Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proceedings of the National Academy of Sciences 99 (26): 16899–16903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Iwamura K, Furukawa K, Uchikawa M, et al. (2004). "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" . J. Biol. Chem . 278 (45): 44429–38. doi :10.1074/jbc.M301609200 PMID 12888565 . Hellberg A, Ringressi A, Yahalom V, et al. (2004). "Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection" . Br. J. Haematol . 125 (4): 528–36. doi :10.1111/j.1365-2141.2004.04930.x PMID 15142124 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 .
