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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
- Disulfide bond
- Flagellum
- Glycoprotein
- Proteomics identification
- Reference proteome
- Sodium channel
- Transmembrane helix
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| P37088 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| sodium ion transport |
|
|
| intracellular sodium ion homeostasis |
|
|
| intracellular sodium ion homeostasis |
|
|
| regulation of blood pressure |
|
|
| sodium ion transmembrane transport |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| acrosomal vesicle |
|
|
| acrosomal vesicle |
|
|
| cytoplasm |
|
|
| cytoplasm |
|
|
| cytosol |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| sodium channel activity |
|
|
| sodium channel activity |
|
|
| protein binding |
|
|
| sodium ion transmembrane transporter activity |
|
|
| ligand-gated sodium channel activity |
|
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- amiloride-sensitive sodium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| ligand-gated sodium channel activity |
| sodium channel activity |
| sodium ion transmembrane transport |
| InterPro |
|---|
| Epithelial sodium channel, chordates |
| Epithelial sodium channel, conserved site |
| Epithelial sodium channel |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050477 | Liddle syndrome | |
| DOID:0080527 | bronchiectasis 2 | |
| DOID:4479 | pseudohypoaldosteronism |
