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MIRAGE
Dystroglycan 1
Summary
- UniProt ID
- Q14118
- Gene Symbol
- DAG1
- Gene ID
- 1605
- Organism
- Homo sapiens (human)
Annotation
- Keyword
- 3D-structure Autocatalytic cleavage Basement membrane Cell membrane Congenital muscular dystrophy Cytoskeleton Disease variant Disulfide bond Dystroglycanopathy Glycoprotein Host cell receptor for virus entry Host-virus interaction Limb-girdle muscular dystrophy Lissencephaly Nucleus Phosphoprotein Postsynaptic cell membrane Proteomics identification Reference proteome Signal Transmembrane helix
Gene Ontology (GO)
| GO Term | Evidence Code | Reference |
|---|---|---|
| positive regulation of cell-matrix adhesion | ||
| morphogenesis of an epithelium | ||
| morphogenesis of an epithelial sheet |
|
|
| heart morphogenesis |
|
|
| membrane protein ectodomain proteolysis |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of signaling [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | Reference |
|---|---|---|
| Golgi membrane | ||
| extracellular region | ||
| extracellular region | ||
| extracellular region | ||
| extracellular region |
GO Hierarchy
| GO Term | Evidence Code | Reference |
|---|---|---|
| laminin receptor activity | ||
| calcium ion binding | ||
| structural constituent of muscle | ||
| tubulin binding | ||
| vinculin binding |
Sequence
MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 33 |
|
|||
| 49 |
|
|||
| 52 |
|
|||
| 63 |
|
|||
| 141 |
|
|||
| 169 |
|
|||
| 171 |
|
|||
| 317 |
|
|
||
| 319 |
|
|
||
| 341 |
|
|
G57321FI
G29931IJ
G43417UB
G29068FM
G80920RR
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| DAG1 core M1 glycosylations | Homo sapiens |
| DAG1 core M2 glycosylations | Homo sapiens |
| DAG1 core M3 glycosylations | Homo sapiens |
| Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 | Homo sapiens |
| Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 | Homo sapiens |
| Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 | Homo sapiens |
| ECM proteoglycans | Homo sapiens |
| EGR2 and SOX10-mediated initiation of Schwann cell myelination | Homo sapiens |
| Formation of the dystrophin-glycoprotein complex (DGC) | Homo sapiens |
| Matriglycan biosynthesis on DAG1 | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:3429 | inclusion body myositis | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:11650 | bronchopulmonary dysplasia | |
| DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
| DOID:0111232 | congenital muscular dystrophy-dystroglycanopathy type A9 |
