DAG1 (Dystroglycan 1) Gene
Key component of the dystrophin-glycoprotein complex; involved in muscular dystrophy and cancer
Gene Information Card
| Symbol | DAG1 |
|---|---|
| Full Name | dystroglycan 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 1605 ncbi.nlm.nih.gov/gene/1605 |
| Ensembl ID | ENSG00000173402 |
| UniProt ID | Q14118 |
| OMIM ID | 128239 |
| HGNC ID | 2666 |
| Aliases | 156DAG, AGRNR, DAG, Dystroglycan, MDDGA9, MDDGC9, MDDGC15 |
Description
DAG1 encodes dystroglycan, a central component of the dystrophin-glycoprotein complex (DGC) that links the extracellular matrix to the cytoskeleton. It is cleaved into alpha-dystroglycan (extracellular) and beta-dystroglycan (transmembrane). Mutations in DAG1 cause various forms of muscular dystrophy and are implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A9 | Loss-of-function mutations disrupt DGC integrity, impairing sarcolemmal stability | OMIM #616538 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 | Missense mutations reduce dystroglycan glycosylation and ligand binding | OMIM #613818 |
| Muscular dystrophy-dystroglycanopathy (congenital) type B9 | Hypomorphic alleles cause mild to moderate dystrophy | OMIM #616538 |
| Cancer (multiple types) | Altered dystroglycan expression and glycosylation promote invasion and metastasis | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 42.1 | High |
| Brain | 18.5 | Medium |
| Lung | 12.3 | Medium |
| Liver | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer cell line |
| A549 | 28.7 | Lung carcinoma cell line |
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 22.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Thr67Met) | Missense | Rare | Reduced glycosylation; associated with limb-girdle muscular dystrophy |
| c.332G>A (p.Arg111His) | Missense | Rare | Impaired laminin binding; congenital muscular dystrophy |
| c.743_744del (p.Gln248Argfs*4) | Frameshift | Very rare | Loss of function; severe congenital dystrophy |
| c.1015C>T (p.Arg339*), | Nonsense | Rare | Premature stop; complete loss of dystroglycan |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of dystroglycan, leading to severe congenital muscular dystrophy.
Gain of Function (GOF)
Not reported for DAG1.
Dominant Negative (DN)
Not reported; DAG1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dystrophin-glycoprotein complex (Reactome: R-HSA-390522)
• Laminin interactions (Reactome: R-HSA-3000157)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Dystroglycan is a 895-amino-acid precursor protein cleaved into alpha-dystroglycan (extracellular, heavily glycosylated) and beta-dystroglycan (transmembrane). It anchors the extracellular matrix to the cytoskeleton via interactions with laminin, agrin, and dystrophin. Glycosylation of alpha-dystroglycan is critical for ligand binding; defects cause muscular dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAG1 Knockout HeLa Cell Line | EDJ-KQ29 | Human | 1605 | Details Get a Quote |
| DAG1 Knockout HEK293 Cell Line | EDJ-KQ3800 | Human | 1605 | Details Get a Quote |
| DAG1 Knockout A-549 Cell Line | EDJ-KQ25913 | Human | 1605 | Details Get a Quote |
| DAG1 Knockout HCT 116 Cell Line | EDJ-KQ25914 | Human | 1605 | Details Get a Quote |
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