Tbio LARGE1 LARGE xylosyl- and glucuronyltransferase 1

Protein Summary

Description

Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699). This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

Uniprot Accession IDs

• O95461
• B0QXZ7
• O60348
• Q17R80
• Q9UGD1
• Q9UGE7
• Q9UGG3
• Q9UGZ8
• Q9UH22

Gene Name

• LARGE1

Ensembl ID

• ENST00000354992
• ENSP00000347088
• ENSG00000133424
• ENST00000397394
• ENSP00000380549
• ENST00000402320
• ENSP00000385223

Symbol

• KIAA0609
• LARGE
• LARGE
• MDC1D
• MDDGA6
• MDDGB6

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

Protein Classes

PANTHER Classes

Protein / Transferase / Glycosyltransferase / Large Xylosyl- And Glucuronyltransferase 1

DTO Classes

Protein / Enzyme / Transferase / Glycosyltransferase / Large Xylosyl- And Glucuronyltransferase 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 51.45   (req: < 5)

Gene RIFs: 22   (req: <= 3)

Antibodies: 135   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 51.45   (req: >= 5)

Gene RIFs: 22   (req: > 3)

Antibodies: 135   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0