Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
dystroglycan 1
dystrophin-associated glycoprotein 1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
muscular dystrophy
|
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
gptkb:dystroglycan
|
| gptkbp:Entrez_Gene_ID |
1605
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:function |
cell adhesion
linking extracellular matrix to cytoskeleton |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2672
|
| https://www.w3.org/2000/01/rdf-schema#label |
DAG1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3p21.31 |
| gptkbp:mutationAssociatedWith |
muscular dystrophy
|
| gptkbp:OMIM |
128239
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Dag1
|
| gptkbp:pathway |
gptkb:ECM-receptor_interaction
gptkb:Focal_adhesion gptkb:PI3K-Akt_signaling_pathway |
| gptkbp:product |
dystroglycan precursor
|
| gptkbp:UniProtID |
Q14118
|
| gptkbp:bfsParent |
gptkb:beta-dystroglycan
|
| gptkbp:bfsLayer |
7
|