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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 (Dystroglycan 1) is a Protein Coding gene. Diseases associated with DAG1 include Muscular Dystrophy-Dystroglycanopathy , Type C, 9 and Muscular Dystrophy-Dystroglycanopathy , Type A, 9. Among its related pathways are Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001618 | virus receptor activity | IEA | -- |
GO:0002162 | dystroglycan binding | IEA | -- |
GO:0003779 | actin binding | IDA | 18341635 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 9417121 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005604 | basement membrane | IDA | 19348877 |
GO:0005615 | extracellular space | IEA,IDA | 18201566 |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 | ||
2 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
3 | Dilated cardiomyopathy (DCM) | ||
4 | ECM-receptor interaction | ||
5 | Blood-Brain Barrier: Anatomy |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001954 | positive regulation of cell-matrix adhesion | IEA | -- |
GO:0002009 | morphogenesis of an epithelium | IBA | 21873635 |
GO:0002011 | morphogenesis of an epithelial sheet | IEA | -- |
GO:0006509 | membrane protein ectodomain proteolysis | IDA | 19946898 |
GO:0007016 | cytoskeletal anchoring at plasma membrane | IMP | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e | · | 9f | · | 9g | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DAG1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DAG1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DAG1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dag1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dag1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | DAG1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DAG1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DAG1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DAG1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dag1 30 |
|
||
Str.15062 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398500 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dag1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Dg 31 32 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
644419 | Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 49,533,047(+) | A/C | MISSENSE_VARIANT | |
646355 | Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 49,532,358(+) | C/T | MISSENSE_VARIANT | |
646566 | Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 49,531,087(+) | G/A | SYNONYMOUS_VARIANT | |
647093 | Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 49,531,365(+) | C/T | MISSENSE_VARIANT | |
649249 | Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 49,531,880(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2666668 | CNV | deletion | 23128226 |
esv2670482 | CNV | deletion | 23128226 |
esv2670969 | CNV | deletion | 23128226 |
esv3561861 | CNV | deletion | 23714750 |
esv3596127 | CNV | loss | 21293372 |
nsv237516 | CNV | deletion | 16902084 |
nsv834687 | CNV | loss | 17160897 |
nsv955589 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy-dystroglycanopathy , type c, 9 |
|
|
muscular dystrophy-dystroglycanopathy , type a, 9 |
|
|
walker-warburg syndrome |
|
|
lassa fever |
|
|
lymphocytic choriomeningitis |
|