A4GALT

Lactosylceramide 4-alpha-galactosyltransferase is an enzyme that in humans is encoded by the A4GALT gene.[5][6]

A4GALT
Identifiers
Aliases	A4GALT, A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK, PK, alpha 1,4-galactosyltransferase, alpha 1,4-galactosyltransferase (P blood group)
External IDs	OMIM: 607922 MGI: 3512453 HomoloGene: 9690 GeneCards: A4GALT
EC number	2.4.1.228
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.2 Start 42,692,121 bp[1] End 42,721,298 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E1 Start 83,226,722 bp[2] End 83,251,774 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • lactosylceramide 4-alpha-galactosyltransferase activity • galactosyltransferase activity • toxic substance binding • transferase activity, transferring glycosyl groups Cellular component • integral component of membrane • integral component of Golgi membrane • Golgi membrane • Golgi apparatus • membrane Biological process • glycosphingolipid biosynthetic process • globoside biosynthetic process • protein glycosylation • plasma membrane organization • lipid metabolism Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	53947	239559
Ensembl	ENSG00000128274	ENSMUSG00000047878
UniProt	Q9NPC4	Q67BJ4
RefSeq (mRNA)	NM_017436 NM_001318038	NM_001004150 NM_001170954 NM_001370647
RefSeq (protein)	NP_001304967 NP_059132	NP_001004150 NP_001164425 NP_001357576
Location (UCSC)	Chr 22: 42.69 – 42.72 Mb	Chr 15: 83.23 – 83.25 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000128274 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047878 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. "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. 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.
• 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. 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.

External links

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