LARGE blocking peptide

LARGE Blocking Peptide (Center)

• Gene Names: LARGE1; LARGE; MDC1D; MDDGA6; MDDGB6
• Synonyms: LARGE; LARGE Blocking Peptide (Center); Glycosyltransferase-like protein LARGE1; 2.4.-.-; Acetylglucosaminyltransferase-like 1A; Xylosyltransferase LARGE; 2.4.2.-; Beta-1;3-glucuronyltransferase LARGE; 2.4.1.-; KIAA0609; LARGE1; LARGE blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 385-398 of HUMAN LARGE
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 756

• Cellular Location: Golgi apparatus membrane; Single-pass type II membrane protein
• Tissue Location: Ubiquitous. Highest expression in heart, brain and skeletal muscle.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for LARGE blocking peptide

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).

NCBI and Uniprot Product Information

• NCBI GI #: 22001684
• NCBI GeneID: 9215
• UniProt Accession #: O95461; O60348; Q17R80; Q9UGD1; Q9UGE7; Q9UGG3; Q9UGZ8; Q9UH22; B0QXZ7
• Molecular Weight: 81,846 Da
• NCBI Official Full Name: Glycosyltransferase-like protein LARGE1
• NCBI Official Synonym Full Names: LARGE xylosyl- and glucuronyltransferase 1
• NCBI Official Symbol: LARGE1
• NCBI Official Synonym Symbols: LARGE; MDC1D; MDDGA6; MDDGB6
• NCBI Protein Information: glycosyltransferase-like protein LARGE1
• UniProt Protein Name: Glycosyltransferase-like protein LARGE1
• Protein Family: Large T antigen
• UniProt Gene Name: LARGE
• UniProt Synonym Gene Names: KIAA0609; LARGE1
• UniProt Entry Name: LARGE_HUMAN

NCBI Description

This gene, which is one of the largest in the human genome, 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. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

Uniprot Description

LARGE: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit. Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B6 (MDDGB6). A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6); also called muscle-eye-brain disease LARGE- related or Walker-Warburg syndrome LARGE-related. MDDGA6 is 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. Belongs to the glycosyltransferase 8 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; EC 2.4.-.-; Transferase

Chromosomal Location of Human Ortholog: 22q12.3

Cellular Component: Golgi apparatus; Golgi membrane; integral to Golgi membrane

Molecular Function: acetylglucosaminyltransferase activity; glucuronosyltransferase activity; manganese ion binding; transferase activity, transferring glycosyl groups; UDP-xylosyltransferase activity; xylosyltransferase activity

Biological Process: glycoprotein biosynthetic process; glycosphingolipid biosynthetic process; muscle maintenance; N-acetylglucosamine metabolic process; protein amino acid glycosylation; protein amino acid O-linked glycosylation; protein amino acid O-linked mannosylation; skeletal muscle regeneration

Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 6; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 6