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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
- 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 |
|---|
| virus receptor activity |
| actin binding |
| SH2 domain binding |
| protein-containing complex binding |
| alpha-actinin binding |
| dystroglycan binding |
| tubulin binding |
| laminin-1 binding |
| calcium ion binding |
| structural constituent of muscle |
Sequence
MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 518 |
|
|||
| 529 |
|
|||
| 641 | N-linked (GlcNAc...) asparagine | |||
| 649 | N-linked (GlcNAc...) asparagine | |||
| 661 | N-linked (GlcNAc...) asparagine | |||
| 726 |
|
|||
| 727 |
|
|||
| 729 |
|
|||
| 734 |
|
|||
| 884 |
|
G57321FI
G81124ET
G29209BS
G50947IE
G70696MD
G70101JE
G80920RR
G80333GO
G37399XV
G82463GQ
G14260UH
G64527OM
G62894KT
G82119TF
G85269DF
G05724UK
G39188ZX
G49108TO
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:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0111232 | congenital muscular dystrophy-dystroglycanopathy type A9 | |
| DOID:11650 | bronchopulmonary dysplasia | |
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:3429 | inclusion body myositis |
