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Alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)
Identifiers
Symbols A4GALT; P1; A14GALT; A4GALT1; PK
External IDs OMIM607922 MGI3512453 HomoloGene9690
RNA expression pattern
PBB GE A4GALT 219488 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 53947 239559
Ensembl ENSG00000128274 ENSMUSG00000047878
UniProt Q9NPC4 Q0R0H6
RefSeq NM_017436 (mRNA) NM_001004150 (mRNA)
NP_059132 (protein) NP_001004150 (protein)
Location Chr 22:
41.42 - 41.42 Mb
Chr 15:
83.05 - 83.08 Mb
PubMed search [1] [2]

Lactosylceramide 4-alpha-galactosyltransferase is an enzyme that in humans is encoded by the A4GALT gene.[1][2]

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.[2]

[edit] References

  1. ^ 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. 
  2. ^ a b "Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=53947. 

[edit] Further reading

  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. 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. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. 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. PMID 15489334. 






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