| Gene Symbol | DAG1 |
|---|---|
| Entrez Gene | 1605 |
| Alt Symbol | 156DAG, A3a, AGRNR, DAG, MDDGC7, MDDGC9 |
| Species | Human |
| Gene Type | protein-coding |
| Description | dystroglycan 1 (dystrophin-associated glycoprotein 1) |
| Other Description | dystroglycan |
| Swissprots | Q14118 A8K6M7 Q969J9 |
| Accessions | EAW64989 EAW64990 Q14118 AK291692 BAF84381 AK297802 BAG60140 AU140753 AW204012 BC012740 AAH12740 BC014616 AAH14616 BF476692 BM990874 BP200440 BX384229 BX402174 CN282379 CX871468 DA223570 DA338757 DA451012 DA698126 DA843040 DA851197 DB065493 DB087722 DB089586 DB214431 DB214875 DQ893491 ABM84417 DQ896435 ABM87434 L19711 AAA81779 NM_001165928 NP_001159400 NM_001177634 NP_001171105 NM_001177635 NP_001171106 NM_001177636 NP_001171107 NM_001177637 NP_001171108 NM_001177638 NP_001171109 NM_001177639 NP_001171110 NM_001177640 NP_001171111 NM_001177641 NP_001171112 NM_001177642 NP_001171113 NM_001177643 NP_001171114 NM_001177644 NP_001171115 NM_004393 NP_004384 |
| Function | Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity. |
| Subcellular Location | Alpha-dystroglycan: Secreted, extracellular space. |
| Tissue Specificity | Expressed in a variety of fetal and adult tissues. In epidermal tissue, located to the basement membrane. Also expressed in keratinocytes and fibroblasts. {ECO:0000269|PubMed:15175026, ECO:0000269|PubMed:8268918}. |
| Top Pathways | ECM-receptor interaction, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy |