B3GALNT1

B3GALNT1
Identifiers
Aliases	B3GALNT1 , B3GALT3, GLCT3, GLOB, Gb4Cer, P1, beta3Gal-T3, galT3, beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
External IDs	OMIM: 603094 MGI: 1349405 HomoloGene: 32457 GeneCards: B3GALNT1
Gene location (Mouse) Chr. Chromosome 3 (mouse) [1] Band 3|3 E1 Start 69,481,491 bp [1] End 69,506,293 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in substantia nigra median eminence suprachiasmatic nucleus dorsomedial hypothalamic nucleus cumulus cell arcuate nucleus spermatocyte facial motor nucleus ventral tegmental area saccule BioGPS More reference expression data
Gene ontology Molecular function transferase activity galactosyltransferase activity glycosyltransferase activity galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity acetylgalactosaminyltransferase activity Cellular component integral component of membrane Golgi apparatus membrane Golgi membrane endoplasmic reticulum Biological process oligosaccharide biosynthetic process glycosphingolipid metabolic process protein glycosylation protein N-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8706 26879 Ensembl ENSG00000169255 ENSMUSG00000043300 UniProt O75752 Q920V1 RefSeq (mRNA) NM_001038628 NM_003781 NM_033167 NM_033168 NM_033169 NM_020026 RefSeq (protein) NP_001033717 NP_003772 NP_149357 NP_149358 NP_149359 NP_001336059 NP_001336060 NP_001336061 NP_001336062 NP_001336063 NP_001336064 NP_001336065 NP_001336066 NP_001336067 NP_001336068 NP_001336069 NP_001336070 NP_001336071 NP_001336072 NP_001336073 NP_001336074 NP_001336075 NP_001336076 NP_001336077 NP_001336078 NP_001336079 NP_001336080 NP_001336081 NP_001336082 NP_001336083 NP_001336084 NP_001336085 NP_001336086 NP_001336087 NP_001336088 NP_001336089 NP_001336090 NP_001336091 NP_001336092 NP_064410 Location (UCSC) n/a Chr 3: 69.48 – 69.51 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B3GALNT1 gene. ^{[4] [5] [6]}

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylgalactosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. ^[6]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000043300 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H (Jun 1998). "A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family". J Biol Chem. 273 (21): 12770–8. doi: 10.1074/jbc.273.21.12770 . PMID   9582303.
5. Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T, Furukawa K (Jan 2001). "Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase". J Biol Chem. 275 (51): 40498–503. doi: 10.1074/jbc.M006902200 . PMID   10993897.
6. "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)".

External links

• Human B3GALNT1 genome location and B3GALNT1 gene details page in the UCSC Genome Browser .

Further reading

• Amado M, Almeida R, Schwientek T, Clausen H (2000). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. doi:10.1016/S0304-4165(99)00168-3. PMID   10580128.
• Kalyanaraman VS, Rodriguez V, Veronese F, et al. (1990). "Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1". AIDS Res. Hum. Retroviruses. 6 (3): 371–80. doi:10.1089/aid.1990.6.371. PMID   2187500.
• Pal R, Hoke GM, Sarngadharan MG (1989). "Role of oligosaccharides in the processing and maturation of envelope glycoproteins of human immunodeficiency virus type 1". Proc. Natl. Acad. Sci. U.S.A. 86 (9): 3384–8. Bibcode:1989PNAS...86.3384P. doi: 10.1073/pnas.86.9.3384 . PMC   287137 . PMID   2541446.
• Dewar RL, Vasudevachari MB, Natarajan V, Salzman NP (1989). "Biosynthesis and processing of human immunodeficiency virus type 1 envelope glycoproteins: effects of monensin on glycosylation and transport". J. Virol. 63 (6): 2452–6. doi:10.1128/jvi.63.6.2452-2456.1989. PMC   250699 . PMID   2542563.
• Kozarsky K, Penman M, Basiripour L, et al. (1989). "Glycosylation and processing of the human immunodeficiency virus type 1 envelope protein". J. Acquir. Immune Defic. Syndr. 2 (2): 163–9. PMID   2649653.
• Robinson WE, Montefiori DC, Mitchell WM (1988). "Evidence that mannosyl residues are involved in human immunodeficiency virus type 1 (HIV-1) pathogenesis". AIDS Res. Hum. Retroviruses. 3 (3): 265–82. doi:10.1089/aid.1987.3.265. PMID   2829950.
• Taniguchi N, Makita A (1984). "Purification and characterization of UDP-N-acetylgalactosamine: globotriaosylceramide beta-3-N-acetylgalactosaminyltransferase, a synthase of human blood group P antigen, from canine spleen". J. Biol. Chem. 259 (9): 5637–42. doi: 10.1016/S0021-9258(18)91062-8 . PMID   6425294.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Almeida R, Amado M, David L, et al. (1998). "A family of human beta4-galactosyltransferases. Cloning and expression of two novel UDP-galactose:beta-n-acetylglucosamine beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3". J. Biol. Chem. 272 (51): 31979–91. doi: 10.1074/jbc.272.51.31979 . hdl: 2066/216416 . PMID   9405390.
• Hellberg A, Poole J, Olsson ML (2002). "Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene". J. Biol. Chem. 277 (33): 29455–9. doi: 10.1074/jbc.M203047200 . PMID   12023287.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• 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. S2CID   7347691.
• 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.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Umeyama H, Iwadate M, Taguchi YH (2014). "TINAGL1 and B3GALNT1 are potential therapy target genes to suppress metastasis in non-small cell lung cancer". BMC Genomics. 15 (Suppl 9): S2. doi: 10.1186/1471-2164-15-S9-S2 . PMC   4290609 . PMID   25521548.