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Guidelines
MIRAGE
Muscle, skeletal receptor tyrosine-protein kinase
Summary
- UniProt ID
- O15146
- Gene Symbol
-
- MUSK
- Gene ID
- 4593
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- O15146
- PubChem
- O15146
- The Human Metabolome Database
- HMDBP01361
- RaftProt
- O15146
- Re-Glyco
- O15146
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Alternative splicing
- Cell membrane
- Congenital myasthenic syndrome
- Developmental protein
- Differentiation
- Disease variant
- Disulfide bond
- Glycoprotein
- Immunoglobulin domain
- Magnesium
- Metal-binding
- Muscle protein
- Phosphoprotein
- Postsynaptic cell membrane
- Receptor
- Reference proteome
- Repeat
- Signal
- Transmembrane helix
- Tyrosine-protein kinase
- Ubl conjugation
- Gene Ontology (GO)
| GO Term |
|---|
| plasma membrane |
| neuromuscular junction |
| receptor complex |
| postsynaptic membrane |
Sequence
MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWSKLPADRPSFTSIHRILERMCERAEGTVSV
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| ECM proteoglycans | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110670 | congenital myasthenic syndrome 9 | |
| DOID:0111377 | fetal akinesia deformation sequence syndrome 1 |
