Version 5.4
| Homo sapiens Gene: B3GALNT1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-63670.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | B3GALNT1 | ||||||||||||||||||
| Gene Name | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | ||||||||||||||||||
| Synonyms | B3GALT3; beta3Gal-T3; galT3; Gb4Cer; GLCT3; GLOB; P; P1 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000169255 | ||||||||||||||||||
| Encoded Proteins |
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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-acetylglucosamine) 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. [provided by RefSeq, Jul 2008] 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-acetylglucosamine) 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. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 3:161083883-161105384 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q26.1 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME | |||||||||||||||||||
| KEGG |
Glycosphingolipid biosynthesis pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.418062 Hs.606694 Hs.723510 | ||||||||||||||||||
| RefSeq | NM_001038628 NM_003781 NM_033167 NM_033168 NM_033169 XM_005247859 XM_005247861 XM_005247862 XM_005247864 XM_006713802 XM_006713804 XM_006713806 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS3193 | ||||||||||||||||||
| HPRD | 09119 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||