DAG1 - dystroglycan 1 Gene
Also Known as A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16
生物種: Homo sapiens
About DAG1
This gene has 19 transcripts (splice variants), 268 orthologues and is associated with 5 phenotypes. Ubiquitous expression in placenta (RPKM 41.6), heart (RPKM 23.5) and 24 other tissues.
Summary
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]
DAG1 Products (26)
| mRNA | Protein | Name |
|---|---|---|
| NM_001165928.4 | NP_001159400.3 | dystroglycan 1 preproprotein |
| NM_001177634.3 | NP_001171105.2 | dystroglycan 1 preproprotein |
| NM_001177635.3 | NP_001171106.2 | dystroglycan 1 preproprotein |
| NM_001177636.3 | NP_001171107.2 | dystroglycan 1 preproprotein |
| NM_001177637.3 | NP_001171108.2 | dystroglycan 1 preproprotein |
| NM_001177638.3 | NP_001171109.2 | dystroglycan 1 preproprotein |
| NM_001177639.3 | NP_001171110.2 | dystroglycan 1 preproprotein |
| NM_001177640.3 | NP_001171111.2 | dystroglycan 1 preproprotein |
| NM_001177641.3 | NP_001171112.2 | dystroglycan 1 preproprotein |
| NM_001177642.3 | NP_001171113.2 | dystroglycan 1 preproprotein |
| NM_001177643.3 | NP_001171114.2 | dystroglycan 1 preproprotein |
| NM_001177644.3 | NP_001171115.2 | dystroglycan 1 preproprotein |
| NM_004393.6 | NP_004384.5 | dystroglycan 1 preproprotein |
| NM_001165928.4 | NP_001159400.3 | dystroglycan 1 preproprotein |
| NM_001177634.3 | NP_001171105.2 | dystroglycan 1 preproprotein |
| NM_001177635.3 | NP_001171106.2 | dystroglycan 1 preproprotein |
| NM_001177636.3 | NP_001171107.2 | dystroglycan 1 preproprotein |
| NM_001177637.3 | NP_001171108.2 | dystroglycan 1 preproprotein |
| NM_001177638.3 | NP_001171109.2 | dystroglycan 1 preproprotein |
| NM_001177639.3 | NP_001171110.2 | dystroglycan 1 preproprotein |
| NM_001177640.3 | NP_001171111.2 | dystroglycan 1 preproprotein |
| NM_001177641.3 | NP_001171112.2 | dystroglycan 1 preproprotein |
| NM_001177642.3 | NP_001171113.2 | dystroglycan 1 preproprotein |
| NM_001177643.3 | NP_001171114.2 | dystroglycan 1 preproprotein |
| NM_001177644.3 | NP_001171115.2 | dystroglycan 1 preproprotein |
| NM_004393.6 | NP_004384.5 | dystroglycan 1 preproprotein |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables SH2 domain binding |
IDA
IDA: Inferred from direct assay
|
11724572 | GOA |
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| enables alpha-actinin binding |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9417121 | GOA |
| enables structural constituent of muscle |
IMP
IMP: Inferred from mutant phenotype
|
18691338 | GOA |
| enables tubulin binding |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| enables vinculin binding |
IPI
IPI: Inferred from physical interaction
|
18341635 | GOA |
| enables virus receptor activity |
IDA
IDA: Inferred from direct assay
|
22156524 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in membrane protein ectodomain proteolysis |
IDA
IDA: Inferred from direct assay
|
19946898 | GOA |
| involved in microtubule anchoring |
IMP
IMP: Inferred from mutant phenotype
|
18341635 | GOA |
| involved in negative regulation of MAPK cascade |
IMP
IMP: Inferred from mutant phenotype
|
19587235 | GOA |
| involved in negative regulation of cell migration |
IMP
IMP: Inferred from mutant phenotype
|
19587235 | GOA |
| involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction |
IMP
IMP: Inferred from mutant phenotype
|
19587235 | GOA |
| involved in positive regulation of basement membrane assembly involved in embryonic body morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
23940118 | GOA |
| involved in regulation of epithelial to mesenchymal transition |
IMP
IMP: Inferred from mutant phenotype
|
23940118 | GOA |
| involved in regulation of gastrulation |
IMP
IMP: Inferred from mutant phenotype
|
23940118 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in basement membrane |
IDA
IDA: Inferred from direct assay
|
19348877 | GOA |
| located in contractile ring |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18764929 | GOA |
| part of dystrophin-associated glycoprotein complex |
IDA
IDA: Inferred from direct assay
|
17993586 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
18201566 | GOA |
| located in filopodium |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| colocalizes with focal adhesion |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| located in lamellipodium |
IDA
IDA: Inferred from direct assay
|
18341635 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
17628813 | GOA |
| located in nucleoplasm |
IDA
IDA: Inferred from direct assay
|
18764929 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8017170 | GOA |
DAG1 Protein Structure
DAG1: Dystroglycan (Dystrophin-associated glycoprotein 1) (607 - 895)
- 0
- 200
- 400
- 600
- 800
- 895 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dystroglycan 1 |
|
DAG1 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Cross
|
DAG1 | Q14118 | Ank3 | Rattus norvegicus | Q3T1J5 | 19109891 |
Recombinant DAG1 Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P75311 | DAG1 Protein, Human (HEK293, His) | Q14118 (H30-V749) | ≥ 95%, as determined by reducing SDS-PAGE. |
DAG1 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P83006 | beta-Dystroglycan Antibody (YA2751) | WB | Human, Mouse |
| HY-P83006A | beta-Dystroglycan Antibody (YA2751)(PBS only) | WB | Human |
| HY-P83716 | Alpha-dystroglycan Antibody | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 9 |
|
|
| Walker-Warburg Syndrome |
|
|
| Lassa Fever |
|
|
| Lymphocytic Choriomeningitis |
|
|
| Muscular Dystrophy |
|
|
| Muscle Eye Brain Disease |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Cobblestone Lissencephaly |
|
|
| Creatine Phosphokinase, Elevated Serum |
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Cardiomyopathy, Dilated, 1d |
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
|
|
| Lissencephaly |
|
|
| Myocarditis |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
|
|
| Brazilian Hemorrhagic Fever |
|
|
| Venezuelan Hemorrhagic Fever |
|
|
| Nonaka Myopathy |
|
|
| Muscular Dystrophy, Congenital, 1b |
|
|
| Bolivian Hemorrhagic Fever |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Cardiomyopathy, Dilated, 1x |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
|
| Cardiomyopathy, Dilated, 3b |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Argentine Hemorrhagic Fever |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Muscle Tissue Disease |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
|
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
|
| Bethlem Myopathy 1 |
|
|
| Lujo Hemorrhagic Fever |
|
|
| Immunodeficiency 47 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
|
| Muscular Disease |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Myopathy |
|
|
| Hydrophthalmos |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
|
| Glaucoma 3, Primary Congenital, A |
|
|
| Inner Ear Disease |
|
|
| Physical Disorder |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
|
| Neuromuscular Junction Disease |
|
|
| Gas Gangrene |
|
|
| Fragile X Syndrome |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Dilated Cardiomyopathy |
|
|
| Cardiomyopathy, Dilated, 1g |
|
|
| Peters-Plus Syndrome |
|
|
| Neuromuscular Disease |
|
|
| Microcephaly |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Distal Arthrogryposis |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Rattus norvegicus | DAG1 | RGD | RGD:621890 |
| Bos taurus | DAG1 | VGNC | VGNC:27871 |
| Macaca mulatta | DAG1 | VGNC | VGNC:71728 |
| Felis catus | DAG1 | VGNC | VGNC:102572 |
| Canis familiaris | DAG1 | VGNC | VGNC:39763 |
| Mus musculus | DAG1 | MGD | MGI:101864 |
| Others | DAG1 | NCBI |