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MIRAGE
Sodium channel protein type 8 subunit alpha
Summary
- UniProt ID
- Q9UQD0
- Gene Symbol
-
- MED
- SCN8A
- Gene ID
- 6334
- Organism
- Homo sapiens (human)
External Links
- GlyConnect
- GlyGen
- Q9UQD0
- PubChem
- Q9UQD0
- The Human Metabolome Database
- HMDBP09088
- Re-Glyco
- Q9UQD0
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell junction
- Cell membrane
- Cell projection
- Cytoplasmic vesicle
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Intellectual disability
- Phosphoprotein
- Reference proteome
- Repeat
- Sodium channel
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Gene Ontology (GO)
| GO Term |
|---|
| plasma membrane |
| membrane |
| cell junction |
| axon |
| cytoplasmic vesicle |
| anchoring junction |
| glutamatergic synapse |
| Z disc |
| voltage-gated sodium channel complex |
| podosome |
| GO Term |
|---|
| voltage-gated sodium channel activity |
| sodium ion binding |
Sequence
MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKTTSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 109 |
|
|
||
| 215 | N-linked (GlcNAc...) asparagine |
|
||
| 289 | N-linked (GlcNAc...) asparagine |
|
||
| 295 | N-linked (GlcNAc...) asparagine |
|
||
| 308 | N-linked (GlcNAc...) asparagine |
|
||
| 326 | N-linked (GlcNAc...) (high mannose) asparagine |
|
||
| 544 |
|
|
||
| 1358 | N-linked (GlcNAc...) asparagine |
|
||
| 1372 | N-linked (GlcNAc...) asparagine |
|
||
| 1383 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Interaction between L1 and Ankyrins | Homo sapiens |
| Phase 0 - rapid depolarisation | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080445 | developmental and epileptic encephalopathy 13 | |
| DOID:0081118 | benign familial infantile seizures 5 |
