A4GALT

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 83,110,923 bp [2] End 83,135,975 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa tibial nerve left ventricle thoracic aorta ascending aorta popliteal artery left uterine tube canal of the cervix left coronary artery minor salivary gland Top expressed in seminal vesicula interventricular septum entorhinal cortex plantaris muscle extensor digitorum longus muscle corneal stroma yolk sac uterus secondary oocyte extraocular muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity lactosylceramide 4-alpha-galactosyltransferase activity galactosyltransferase activity toxic substance binding glycosyltransferase activity 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: 83.11 – 83.14 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. 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. S2CID   36675818.
• Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, 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 .