Gene
dag1
- ID
- ZDB-GENE-021223-1
- Name
- dystroglycan 1
- Symbol
- dag1 Nomenclature History
- Previous Names
-
- dag
- dystrophin-associated glycoprotein 1
- wu:fb83d06
- wu:fi25f06
- wu:fi37b08
- zgc:109786
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Exhibits laminin binding activity. Involved in several processes, including T-tubule organization; skeletal muscle organ development; and somatic muscle development. Localizes to sarcolemma. Used to study muscular dystrophy-dystroglycanopathy. Human ortholog(s) of this gene implicated in Duchenne muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy type 2D; autosomal recessive limb-girdle muscular dystrophy type 2P; congenital muscular dystrophy-dystroglycanopathy type A9; and inclusion body myositis. Is expressed in several structures, including mesoderm; nervous system; pronephros; somite; and trunk musculature. Orthologous to human DAG1 (dystroglycan 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 51 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu576 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 32 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive limb-girdle muscular dystrophy type 2P | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | 613818 |
congenital muscular dystrophy-dystroglycanopathy type A9 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 | 616538 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
muscular dystrophy-dystroglycanopathy type B1 | WT + MO1-dag1 | standard conditions | Goody et al., 2012 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR006644 | Dystroglycan-type cadherin-like |
Domain | IPR008465 | Dystroglycan, C-terminal |
Domain | IPR030398 | DG-type SEA domain |
Domain | IPR041631 | Alpha-dystroglycan N-terminal domain 2 |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR015919 | Cadherin-like superfamily |
Homologous_superfamily | IPR027468 | Alpha-dystroglycan domain 2 |
Domain Details Per Protein
Protein | Length | Alpha-dystroglycan domain 2 | Alpha-dystroglycan N-terminal domain 2 | Cadherin-like superfamily | DG-type SEA domain | Dystroglycan, C-terminal | Dystroglycan-type cadherin-like | Immunoglobulin-like fold |
---|---|---|---|---|---|---|---|---|
UniProtKB:Q8JHU7
|
866 | |||||||
UniProtKB:F1QMH7
|
866 |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-dag1 | monoclonal | IgM | Mouse |
|
Santa Cruz Biotechnology, Inc.
Millipore |
17 | |
Ab5-dag1 | polyclonal | Rabbit |
|
2 | |||
Ab3-dag1 | monoclonal | IgG2a | Mouse |
|
Leica Microsystems Inc.
Abcam plc |
30 | |
Ab2-dag1 | monoclonal | IgG1 | Mouse |
|
Millipore
|
6 | |
Ab4-dag1 | monoclonal | IgG1 , l | Mouse |
|
Developmental Studies Hybridoma Bank
|
7 |
Plasmids
No data available