| Gene Symbol |
SCNN1A
|
| Entrez Gene |
6337
|
| Alt Symbol |
BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
sodium channel, non voltage gated 1 alpha subunit
|
| Other Description |
alpha ENaC-2|alpha-ENaC|alpha-NaCH|amiloride-sensitive epithelial sodium channel alpha subunit|amiloride-sensitive sodium channel subunit alpha|amiloride-sensitive sodium channel subunit alpha 2|epithelial Na(+) channel subunit alpha|nasal epithelial sodium channel alpha subunit|nonvoltage-gated sodium channel 1 subunit alpha|sodium channel, non-voltage-gated 1 alpha subunit|sodium channel, nonvoltage-gated 1 alpha
|
| Swissprots |
Q6GSQ6 C5HTZ0 A5X2U9 P37088 B4E2Q5 Q9UM64 O43271
|
| Accessions |
AAA21813 AAC31773 AAC31774 AAD28355 ACS13719 ACS13720 ACS13721 ACS13722 CAB07505 EAW88803 EAW88804 P37088 AK025536 AK172792 AK304379 BAG65217 AY365119 AAQ67341 BC006526 AAH06526 BC037417 BC062613 AAH62613 BU680600 DB232484 DQ402522 ABD72218 X76180 CAA53773 NM_001038 NP_001029 NM_001159575 NP_001153047 NM_001159576 NP_001153048
|
| Function |
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 sweat glands. Also plays a role in taste perception. {ECO:0000269|PubMed:24124190}.
|
| Subcellular Location |
Apical cell membrane {ECO:0000269|PubMed:22207244}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P37089}. Cell projection, cilium {ECO:0000269|PubMed:22207244}. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non- ciliated epithelial cells, restricted to apical surfaces. {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:24124190}.
|
| Tissue Specificity |
Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart. {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:9575806}.
|
| Top Pathways |
Taste transduction, Aldosterone-regulated sodium reabsorption
|