DAG1

This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]

Description

Dystroglycan 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

3 (49468703 - 49535618)

Ensembl ID

ENSG00000173402  (ver. 103.38)

Orthologs

Mouse Dag1: ENSMUSG00000039952

UniProt

Q14118

neXtProt

NX_Q14118

Human splice variants
Mouse splice variants

Protein structure