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Sodium channel regulatory subunit beta-1
Summary
- UniProt ID
- Q07699
- Gene Symbol
- SCN1B
- Gene ID
- 6324
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q07699
- PubChem
- Q07699
- The Human Metabolome Database
- HMDBP09079
- Re-Glyco
- Q07699
Annotation
- Keyword
- 3D-structure Alternative splicing Atrial fibrillation Brugada syndrome Cell adhesion Cell membrane Cell projection Disease variant Disulfide bond Epilepsy Glycoprotein Immunoglobulin domain Proteomics identification Reference proteome Secreted Signal Sodium transport Transmembrane helix
Gene Ontology (GO)
| GO Term | Evidence Code | Reference |
|---|---|---|
| cell adhesion |
|
|
| axon guidance | ||
| positive regulation of sodium ion transport | ||
| positive regulation of neuron projection development | ||
| neuronal action potential propagation |
GO Hierarchy
- locomotion
biological process
biological regulation [inference]
regulation of biological process [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
positive regulation of transport [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
regulation of transmembrane transport [inference]
positive regulation of cellular process [inference]
regulation of molecular function [inference]
| GO Term | Evidence Code | Reference |
|---|---|---|
| voltage-gated sodium channel complex | ||
| voltage-gated sodium channel complex | ||
| voltage-gated sodium channel complex | ||
| voltage-gated sodium channel complex | ||
| extracellular region |
GO Hierarchy
| GO Term | Evidence Code | Reference |
|---|---|---|
| sodium channel regulator activity | ||
| sodium channel regulator activity | ||
| sodium channel inhibitor activity | ||
| sodium channel inhibitor activity | ||
| sodium channel inhibitor activity |
GO Hierarchy
Sequence
MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFRQKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 93 |
|
|
||
| 110 |
|
|
||
| 114 |
|
|
||
| 135 |
|
|
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 |
| Sensory perception of sweet, bitter, and umami (glutamate) taste | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110222 | Brugada syndrome 5 | |
| DOID:0050650 | familial atrial fibrillation | |
| DOID:0080455 | developmental and epileptic encephalopathy 52 | |
| DOID:0111302 | generalized epilepsy with febrile seizures plus 1 |
