A4GALT

Alpha 1,4-galactosyltransferase
Identifiers
Symbols	A4GALT ; A14GALT; A4GALT1; Gb3S; P(k); P1; P1PK; PK
External IDs	OMIM: 607922 MGI: 3512453 HomoloGene: 9690 GeneCards: A4GALT Gene
EC number	2.4.1.228
Gene ontology Molecular function • galactosyltransferase activity • toxic substance binding • lactosylceramide 4-alpha-galactosyltransferase activity Cellular component • membrane • integral component of Golgi membrane • extracellular exosome Biological process • globoside biosynthetic process • protein glycosylation • glycosphingolipid biosynthetic process • plasma membrane organization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	53947	239559
Ensembl	ENSG00000128274	ENSMUSG00000047878
UniProt	Q9NPC4	Q67BJ4
RefSeq (mRNA)	NM_017436	NM_001004150
RefSeq (protein)	NP_059132	NP_001004150
Location (UCSC)	Chr 22: 42.69 – 42.72 Mb	Chr 15: 83.23 – 83.25 Mb
PubMed search

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]

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. "Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)".

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.
• Mammalian Gene Collection Program Team; Strausberg, R. L.; Feingold, E. A.; Grouse, L. H.; 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. 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.

External links

• A4GALT human gene location in the UCSC Genome Browser.
• A4GALT human gene details in the UCSC Genome Browser.