InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LARGE

Summary

InnateDB Protein

IDBP-294223.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LARGE

Protein Name

like-glycosyltransferase

Synonyms

MDC1D; MDDGA6; MDDGB6;

Species

Homo sapiens

Ensembl Protein

ENSP00000385223

InnateDB Gene

IDBG-5283 (LARGE)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:15661757, ECO:0000269PubMed:15752776}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:15661757, ECO:0000269PubMed:15958417}; Single-pass type II membrane protein {ECO:0000269PubMed:15661757, ECO:0000269PubMed:15958417}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840]: 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. {ECO:0000269PubMed:12966029}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]: 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. {ECO:0000269PubMed:19067344, ECO:0000269PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Highest expression in heart, brain and skeletal muscle. {ECO:0000269PubMed:15752776}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008375	acetylglucosaminyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups

Biological Process

GO:0006044	N-acetylglucosamine metabolic process
GO:0006486	protein glycosylation
GO:0006688	glycosphingolipid biosynthetic process
GO:0009101	glycoprotein biosynthetic process
GO:0046716	muscle cell cellular homeostasis