A4GALT

From Wikipedia, the free encyclopedia

Alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)

Identifiers

A4GALT; P1; A14GALT; A4GALT1; PK

External IDs

OMIM: 607922 MGI: 3512453 HomoloGene: 9690

Gene ontology
Molecular Function:	• galactosyltransferase activity • transferase activity, transferring glycosyl groups • lactosylceramide 4-alpha-galactosyltransferase activity
Cellular Component:	• membrane fraction • Golgi stack • membrane • integral to membrane • integral to Golgi membrane
Biological Process:	• glycosphingolipid biosynthetic process • plasma membrane organization and biogenesis • lipid biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_017436 (mRNA)
NP_059132 (protein)

NM_001004150 (mRNA)
NP_001004150 (protein)

Location

Chr 22: 41.42 - 41.42 Mb

Chr 15: 83.05 - 83.08 Mb

Pubmed search

[1]

[2]

Alpha 1,4-galactosyltransferase (globotriaosylceramide synthase), also known as A4GALT, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase).

[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.
Keusch JJ, Manzella SM, Nyame KA, et al. (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.
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. 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.