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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Dystroglycan 1
Summary
- UniProt ID
- Q14118
- Gene Symbol
-
- DAG1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Autocatalytic cleavage
- 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
- Reference proteome
- Secreted
- Signal
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular region |
| basement membrane |
| extracellular space |
| cytoplasm |
| cytoskeleton |
| plasma membrane |
| membrane |
| intracellular membrane-bounded organelle |
| postsynaptic membrane |
| collagen-containing extracellular matrix |
| GO Term |
|---|
| dystroglycan binding |
| actin binding |
Sequence
MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 141 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| 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 |
| Non-integrin membrane-ECM interactions | Homo sapiens |
| O-linked glycosylation | Homo sapiens |
| Regulation of expression of SLITs and ROBOs | 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:0060584 | Noonan syndrome 6 | |
| DOID:0060585 | Noonan syndrome 7 | |
| DOID:0060586 | Noonan syndrome 8 | |
| DOID:0060587 | Noonan syndrome 9 | |
| DOID:0060588 | Noonan syndrome 10 | |
| DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I | |
| DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
| DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
| DOID:0060673 | Peters anomaly | |
| DOID:0060764 | autosomal recessive Robinow syndrome |
