Tclin SCNN1A Amiloride-sensitive sodium channel subunit alpha

Protein Summary

Description

Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception. Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

Uniprot Accession IDs

• P37088
• A5X2U9
• B4E2Q5
• C5HTZ0
• O43271
• Q6GSQ6
• Q9UM64

Gene Name

• SCNN1A

Ensembl ID

• ENST00000228916
• ENSP00000228916
• ENSG00000111319
• ENST00000360168
• ENSP00000353292
• ENST00000543768
• ENSP00000438739

Symbol

• SCNN1
• BESC2
• ENaCa
• SCNEA
• SCNN1
• LIDLS3
• ENaCalpha

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
PubMedID	0.92
molecular function	0.88
cellular component	0.82
disease	0.81
small molecule perturbation	0.76

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Amiloride-sensitive Sodium Channel Subunit Alpha

DTO Classes

Protein / Ion Channel / Amiloride-sensitive Sodium Channel Family / Scnn1a Subfamily / Amiloride-sensitive Sodium Channel Subunit Alpha

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 131.13   (req: < 5)

Gene RIFs: 138   (req: <= 3)

Antibodies: 254   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 131.13   (req: >= 5)

Gene RIFs: 138   (req: > 3)

Antibodies: 254   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 41

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 2