A4GALT

A4GALT
Identifiers
AliasesA4GALT, A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK, alpha 1,4-galactosyltransferase, alpha 1,4-galactosyltransferase (P blood group)
External IDsMGI: 3512453 HomoloGene: 9690 GeneCards: A4GALT
EC number2.4.1.228
Gene location (Human)
Chr.Chromosome 22 (human)[1]
Band22q13.2Start42,692,112 bp[1]
End42,721,298 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

53947

239559

Ensembl

ENSG00000128274

ENSMUSG00000047878

UniProt

Q9NPC4

Q67BJ4

RefSeq (mRNA)

NM_017436
NM_001318038

NM_001004150
NM_001170954

RefSeq (protein)

NP_001304967
NP_059132

NP_001004150
NP_001164425

Location (UCSC)Chr 22: 42.69 – 42.72 MbChr 15: 83.23 – 83.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000128274 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047878 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. 1 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.


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