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; OMA:B3GALNT1 - orthologs
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	69,506,293 bp
RNA expression pattern
	n/a
	Top expressed in
	gastrula; ; substantia nigra; ; median eminence; ; suprachiasmatic nucleus; ; decidua; ; dorsomedial hypothalamic nucleus; ; cumulus cell; ; arcuate nucleus; ; spermatocyte; ; facial motor nucleus;
	; ;
	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
	8706
	26879
	ENSG00000169255
	ENSMUSG00000043300
	O75752
	Q920V1
	NM_001038628; NM_003781; NM_033167; NM_033168; NM_033169
	NM_020026
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
	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]

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043300 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)".

[refGRCm38Ensembl-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.

[pmid9582303-4] 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.

[pmid10993897-5] 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.

[entrez-6] "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)".

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