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Gene: DAG1 (dystroglycan 1) Homo sapiens
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Symbol: DAG1
Name: dystroglycan 1
Description: Exhibits SH2 domain binding activity and cytoskeletal protein binding activity. Involved in several processes, including cytoskeletal anchoring at plasma membrane; negative regulation of intracellular signal transduction; and regulation of embryonic development. Localizes to several cellular components, including the dystrophin-associated glycoprotein complex; filopodium; and lamellipodium. Colocalizes with the focal adhesion. 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. Biomarker of Duchenne muscular dystrophy and Fukuyama congenital muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 156DAG; A3a; AGRNR; DAG; dystroglycan; dystroglycan 1 (dystrophin-associated glycoprotein 1); FLJ51254; LGMDR16; MDDGA9; MDDGC7; MDDGC9
Orthologs:
Mus musculus (house mouse) : Dag1 (dystroglycan 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dag1 (dystroglycan 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dag1 (dystroglycan 1)
Pan paniscus (bonobo/pygmy chimpanzee) : DAG1 (dystroglycan 1)
Canis lupus familiaris (dog) : DAG1 (dystroglycan 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dag1 (dystroglycan 1)
Sus scrofa (pig) : DAG1 (dystroglycan 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38349,468,703 - 49,535,618 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37349,506,136 - 49,573,051 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,482,569 - 49,548,052 (+)NCBINCBI36hg18NCBI36
Build 34349,482,594 - 49,548,048NCBI
Celera349,470,589 - 49,537,675 (+)NCBI
Cytogenetic Map3p21.31NCBI
HuRef349,565,602 - 49,632,289 (+)NCBIHuRef
CHM1_1349,458,558 - 49,525,426 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
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Additional Information

External Database Links
Nomenclature History
 
More on DAG1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344302
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.