| Gene Symbol | B4GAT1 |
|---|---|
| Entrez Gene | 11041 |
| Alt Symbol | B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT |
| Species | Human |
| Gene Type | protein-coding |
| Description | beta-1,4-glucuronyltransferase 1 |
| Other Description | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6|beta-1,3-N-acetylglucosaminyltransferase bGnT-6|i-beta-1,3-N-acetylglucosaminyltransferase|poly-N-acetyllactosamine extension enzyme |
| Swissprots | O43505 Q4TTN0 |
| Accessions | AAY46155 EAW74517 EAW74518 O43505 AF029893 AAC39538 AK075354 BAG52119 AK098389 AK098779 AK225182 AK293715 BAG57146 AK294604 BAG57791 BC021965 AAH21965 DA169103 DQ892706 ABM83632 DQ895957 ABM86883 NM_006876 NP_006867 |
| Function | Beta-1,4-glucuronyltransferase involved in O- mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE, during synthesis of phosphorylated O- mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha- dystroglycan (DAG1) (By similarity). {ECO:0000250|UniProtKB:Q8BWP8, ECO:0000269|PubMed:19587235, ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699}. |
| Subcellular Location | Golgi apparatus membrane {ECO:0000269|PubMed:19587235, ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:23359570}. Note=Localizes near the trans-Golgi apparatus. {ECO:0000269|PubMed:25279699}. |
| Tissue Specificity | In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver. {ECO:0000269|PubMed:9405606}. |
| Top Pathways | Glycosaminoglycan biosynthesis - keratan sulfate, Glycosphingolipid biosynthesis - lacto and neolacto series |