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
Expression
All Expression Data
51 figures from 26 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
32 figures from 14 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dag1 Human Ortholog
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
Associated With dag1 Via Experimental Models
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA dag1-201 (1) Ensembl 3,596 nt
mRNA dag1-202 (1) Ensembl 5,674 nt
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-dag1 monoclonal IgM Mouse
  • IHC
  • WB
Santa Cruz Biotechnology, Inc.
Millipore
17
Ab5-dag1 polyclonal Rabbit
  • WB
2
Ab3-dag1 monoclonal IgG2a Mouse
  • IHC
  • WB
Leica Microsystems Inc.
Abcam plc
30
Ab2-dag1 monoclonal IgG1 Mouse
  • IHC
  • WB
Millipore
6
Ab4-dag1 monoclonal IgG1 , l Mouse
  • IHC
  • WB
Developmental Studies Hybridoma Bank
7
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations