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MIRAGE
sodium channel epithelial 1 subunit alpha
Summary
- Gene Symbol
-
- SCNN1A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Cytoplasm
- Cytoplasmic vesicle
- Disease variant
- Flagellum
- Glycoprotein
- Reference proteome
- Sodium channel
- Taste
- Transmembrane helix
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| P37088 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular sodium ion homeostasis | ||
| regulation of blood pressure | ||
| sodium ion transmembrane transport | ||
| sodium ion transmembrane transport | ||
| multicellular organismal-level water homeostasis |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| acrosomal vesicle | ||
| cytoplasm | ||
| cytosol | ||
| plasma membrane | ||
| plasma membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| sodium channel activity | ||
| protein binding | ||
| ligand-gated sodium channel activity | ||
| WW domain binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- amiloride-sensitive sodium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
| Gene Ontology |
|---|
| ligand-gated sodium channel activity |
| sodium channel activity |
| sodium ion transmembrane transport |
| InterPro |
|---|
| Epithelial sodium channel |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050477 | Liddle syndrome | |
| DOID:0080527 | bronchiectasis 2 | |
| DOID:4479 | pseudohypoaldosteronism |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 112917361 | VULVU07592 | ||
| 113486700 | ATHCN02379 | ||
| 113892346 | BOBOX41172 | ||
| 115601518 | STRHB04932 | ||
| 116439331 | CORMO15374 | ||
| 116816276 | CHEAB21916 | ||
| 117028185 | RHIFE08638 | ||
| 118902266 | BALMU03048 |
