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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| sensory perception of salty taste | ||
| multicellular organismal-level water homeostasis | ||
| intracellular sodium ion homeostasis | ||
| cellular response to aldosterone | ||
| regulation of blood pressure |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| external side of plasma membrane | ||
| sodium channel complex | ||
| apical plasma membrane | ||
| motile cilium | ||
| plasma membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| WW domain binding | ||
| ligand-gated sodium channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- amiloride-sensitive sodium channel
- Functional Category
-
- G: Carbohydrate transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
- O: Posttranslational modification, protein turnover, chaperones
| 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:1184 | nephrotic syndrome | |
| DOID:1289 | neurodegenerative disease | |
| DOID:326 | ischemia | |
| DOID:4479 | pseudohypoaldosteronism | |
| DOID:769 | neuroblastoma |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 20276 | MGI:101782 | MOUSE48723 | ||
| 25122 | RGD:3639 | RATNO30592 | ||
| 181101 | WB:WBGene00003174 | |||
| 181728 | WB:WBGene00003168 | |||
| 189058 | WB:WBGene00012137 | |||
| 282348 | BOVIN30479 | |||
| 395013 | Xenbase:XB-GENE-996083 | |||
| 396608 | PIGXX26345 | |||
| 397811 | Xenbase:XB-GENE-996110 | |||
| 451776 | 9598_0:003751 | PANTR04923 |
