B4GAT1

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq]

Full Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

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 LARGE1, 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).

Biological Process

Keratan sulfate biosynthetic process Source: Reactome
Protein O-linked glycosylation Source: Reactome
Protein O-linked mannosylation Source: UniProtKB

Cellular Location

Golgi apparatus membrane. Localizes near the trans-Golgi apparatus.

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13): An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.

Topology

Cytoplasmic: 1-8 aa
Helical: 9-36 aa
Lumenal: 37-415 aa