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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 |
|---|
| intracellular membrane-bounded organelle |
| postsynaptic membrane |
| collagen-containing extracellular matrix |
| extracellular exosome |
| glutamatergic synapse |
| GABA-ergic synapse |
| basolateral plasma membrane |
| lamellipodium |
| filopodium |
| sarcolemma |
| GO Term |
|---|
| calcium ion binding |
| tubulin binding |
| structural constituent of muscle |
| laminin binding |
| SH2 domain binding |
| protein-containing complex binding |
| alpha-actinin binding |
| vinculin binding |
| laminin-1 binding |
| virus receptor activity |
Sequence
MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 33 |
|
|||
| 49 |
|
|||
| 52 |
|
|||
| 63 | O-linked (GalNAc...) threonine | |||
| 141 | N-linked (GlcNAc...) asparagine | |||
| 169 |
|
|||
| 171 |
|
|||
| 317 | O-linked (Man6P...) threonine |
|
||
| 319 | O-linked (Man6P...) threonine |
|
||
| 343 |
|
G57321FI
G29931IJ
G43417UB
G29068FM
G80920RR
G53434XO
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:0050700 | cardiomyopathy | |
| DOID:0050759 | myotonic dystrophy type 2 | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0050865 | tongue squamous cell carcinoma | |
| DOID:0050894 | ameloblastoma | |
| DOID:0050902 | medulloblastoma | |
| DOID:0060192 | Crohn's colitis | |
| DOID:0060254 | Robinow syndrome | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D |
