B4GALT3
Summary: This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| beta-1,4-galactosyltransferase 3 | MIM:604014 | Ensembl:ENSG00000158850 | HGNC:HGNC:926 | PA25225 | 1q23.3 |
GO terms in B4GALT3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0003831 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity |
| MF | IEA | GO:0003945 | N-acetyllactosamine synthase activity |
| MF | IDA | GO:0008378 | galactosyltransferase activity |
| MF | IEA | GO:0046872 | metal ion binding |
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0032580 | Golgi cisterna membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0005975 | carbohydrate metabolic process |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | IDA | GO:0006682 | galactosylceramide biosynthetic process |
| BP | TAS | GO:0018146 | keratan sulfate biosynthetic process |
Gene expression in normal tissue: B4GALT3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in B4GALT3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00510 | N-Glycan biosynthesis - Homo sapiens (human) |
| kegg | hsa00514 | Other types of O-glycan biosynthesis - Homo sapiens (human) |
| kegg | hsa00515 | Mannose type O-glycan biosynthesis - Homo sapiens (human) |
| kegg | hsa00533 | Glycosaminoglycan biosynthesis - keratan sulfate - Homo sapiens (human) |
| kegg | hsa00601 | Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human) |
| humancyc | PWY-7434 | terminal O-glycans residues modification |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1638074 | Keratan sulfate/keratin metabolism |
| reactome | R-HSA-2022854 | Keratan sulfate biosynthesis |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
| reactome | R-HSA-975576 | N-glycan antennae elongation in the medial/trans-Golgi |
| reactome | R-HSA-975577 | N-Glycan antennae elongation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in B4GALT3
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