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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu576 (13 images)

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

Human Disease	Fish	Conditions	Citations
muscular dystrophy-dystroglycanopathy type B1	WT + MO1-dag1	standard conditions	Goody et al., 2012

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 InterPro	866
UniProtKB:F1QMH7 InterPro	866

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	dag1-201 (1) Ensembl	Ensembl		3,596 nt	Select Tool
mRNA	dag1-202 (1) Ensembl	Ensembl		5,674 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-dag1	monoclonal	dag1	IgM	Mouse	IHC WB	Santa Cruz Biotechnology, Inc. Millipore	17
Ab5-dag1	polyclonal	dag1		Rabbit	WB		2
Ab3-dag1	monoclonal	dag1	IgG2a	Mouse	IHC WB	Leica Microsystems Inc. Abcam plc	30
Ab2-dag1	monoclonal	dag1	IgG1	Mouse	IHC WB	Millipore	5
Ab4-dag1	monoclonal	dag1	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