{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P37088","secondaryAccessions":["A5X2U9","B4E2Q5","C5HTZ0","O43271","Q6GSQ6","Q9UM64"],"uniProtkbId":"SCNNA_HUMAN","entryAudit":{"firstPublicDate":"1994-10-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1994-10-01","entryVersion":236,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26772908"}],"value":"Epithelial sodium channel subunit alpha"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8023962"}],"value":"Alpha-ENaC"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26772908"}],"value":"ENaC subunit alpha"},{"value":"ENaCA"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8023962"}],"value":"Epithelial Na(+) channel subunit alpha"}]},"alternativeNames":[{"fullName":{"value":"Alpha-NaCH"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8278374"}],"value":"Amiloride-sensitive sodium channel subunit alpha"}},{"fullName":{"value":"Nonvoltage-gated sodium channel 1 subunit alpha"}},{"fullName":{"value":"SCNEA"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10599"}],"value":"Sodium channel epithelial 1 subunit alpha"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10599"}],"value":"SCNN1A"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10599"}],"value":"SCNN1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12107247"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24124190"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28710092"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30251954"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32729833"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8023962"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8278374"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9792722"}],"value":"This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:8023962, PubMed:8278374, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190, PubMed:28710092, PubMed:8278374). It plays a key role in maintaining sodium homeostasis through electrogenic sodium reabsorption in the kidneys (PubMed:12107247). Additionally, ENaC is essential for airway surface liquid homeostasis, which is crucial for proper mucus clearance (PubMed:24124190, PubMed:28710092)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9575806"}],"value":"Not functional"}],"commentType":"FUNCTION","molecule":"Isoform 4"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Na(+)(in) = Na(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:34963"},{"database":"ChEBI","id":"CHEBI:29101"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30251954"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32729833"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8023962"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8278374"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9792722"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8023962"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8278374"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9792722"}],"value":"Originally identified and characterized by its inhibition by the diuretic drug amiloride (PubMed:8023962, PubMed:8278374, PubMed:9792722). Inhibited by phenamil (PubMed:8278374)"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12167593"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22493497"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24124190"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30251954"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32729833"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9169421"}],"value":"Heterotrimer; containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit (PubMed:30251954, PubMed:32729833). Interacts with WWP1 (via WW domains) (PubMed:9169421). Interacts with WWP2 (via WW domains); inhibits the channel (PubMed:12167593, PubMed:9169421). Interacts with BPIFA1; the interaction is indirect via SCNN1B and inhibits the proteolytic processing of SCNN1A and SCNN1G and the activation of ENaC (PubMed:24124190). Interacts with the full-length immature form of PCSK9 (pro-PCSK9); inhibits ENaC by promoting its proteasomal degradation (PubMed:22493497)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P37088","intActId":"EBI-7845444"},"interactantTwo":{"uniProtKBAccession":"P46934","geneName":"NEDD4","intActId":"EBI-726944"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P37088","intActId":"EBI-7845444"},"interactantTwo":{"uniProtKBAccession":"P51170","geneName":"SCNN1G","intActId":"EBI-2547354"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P37089"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22207244"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24124190"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28130590"}],"value":"In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces. In epidermis, located nearly uniformly in the cytoplasm in a granular distribution (PubMed:28130590). In sebaceous glands, observed only in the cytoplasmic space in between the lipid vesicles (PubMed:28130590). In eccrine sweat glands, mainly located at the apical surface of the cells facing the lumen (PubMed:28130590). In skin, in arrector pili muscle cells and in adipocytes, located in the cytoplasm and colocalized with actin fibers (PubMed:28130590). In spermatogonia, spermatocytes and round spermatids, located in the cytoplasm (By similarity). Prior to spermiation, location shifts from the cytoplasm to the spermatid tail (By similarity). In spermatozoa, localizes at the acrosome and the central region of the sperm flagellum (By similarity)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18174164"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22207244"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28130590"}],"value":"Apical cell membrane","id":"SL-0015"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32729833"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22207244"}],"value":"Cell projection, cilium","id":"SL-0066"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28130590"}],"value":"Cytoplasmic granule","id":"SL-0281"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28130590"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P37089"}],"value":"Cytoplasmic vesicle, secretory vesicle, acrosome","id":"SL-0007"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P37089"}],"value":"Cell projection, cilium, flagellum","id":"SL-0117"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"Alpha ENAC1"}],"isoformIds":["P37088-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"Alpha ENAC2"}],"isoformIds":["P37088-2"],"sequenceIds":["VSP_007719"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9575806"}],"value":"Alpha ENACx"}],"isoformIds":["P37088-3"],"sequenceIds":["VSP_007720","VSP_007721"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9575806"}],"value":"Alpha ENAC-19"}],"isoformIds":["P37088-4"],"sequenceIds":["VSP_007722"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9575806"}],"value":"Alpha ENAC+22"}],"isoformIds":["P37088-5"],"sequenceIds":["VSP_007723"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["P37088-6"],"sequenceIds":["VSP_043667"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22207244"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28130590"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9575806"}],"value":"Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). 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 (PubMed:22207244). in skin, expressed in keratinocytes, melanocytes and Merkel cells of the epidermal sub-layers, stratum basale, stratum spinosum and stratum granulosum (at protein level) (PubMed:28130590). Expressed in the outer root sheath of the hair follicles (at protein level) (PubMed:28130590). Detected in both peripheral and central cells of the sebaceous gland (at protein level) (PubMed:28130590). Expressed by eccrine sweat glands (at protein level) (PubMed:28130590). In skin, also expressed by arrector pili muscle cells and intradermal adipocytes (PubMed:28130590). Isoform 1 and isoform 2 predominate in all tissues"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9575806"}],"value":"Detected in lung and heart"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform 4"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11266509"}],"value":"By aldosterone"}],"commentType":"INDUCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11244092"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11696533"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12167593"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17502380"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18174164"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23665454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9792722"}],"value":"Ubiquitinated. Can be ubiquitinated at multiple sites and undergo monoubiquitination and polyubiquitination. Ubiquitination by NEDD4 or NEDD4L inhibits the ENaC channel through endocytosis, intracellular retention and degradation of its individual subunits"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61180"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24124190"}],"value":"ENaC is activated through the proteolytic maturation of its subunits. Furin cleaves the SCNN1A subunit, which results in a stepwise increase in the open probability of the channel due to the release of an inhibitory tract (By similarity). BPIFA1, which is recruited by the SCNN1B subunit, prevents the proteolytic activation of ENaC (PubMed:24124190)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P37089"}],"value":"N-glycosylated"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Pseudohypoaldosteronism 1B1, autosomal recessive","diseaseAccession":"DI-01255","acronym":"PHA1B1","description":"A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.","diseaseCrossReference":{"database":"MIM","id":"264350"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10586178"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15853823"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18634878"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18634878"}],"value":"The disease is caused by variants affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878)"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Bronchiectasis with or without elevated sweat chloride 2","diseaseAccession":"DI-02475","acronym":"BESC2","description":"A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.","diseaseCrossReference":{"database":"MIM","id":"613021"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19462466"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Liddle syndrome 3","diseaseAccession":"DI-05332","acronym":"LIDLS3","description":"A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.","diseaseCrossReference":{"database":"MIM","id":"618126"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28710092"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9575806"}],"value":"May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay (PubMed:9575806). No significant expression or activity detected (PubMed:9575806)"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 3"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9575806"}],"value":"No significant expression detected and not functional"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 5"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAH06526.2","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":669,"modifier":"EXACT"}},"description":"Epithelial sodium channel subunit alpha","featureId":"PRO_0000181261"},{"type":"Topological domain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30251954"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32729833"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"6BQN"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"6WTH"}]},{"type":"Transmembrane","location":{"start":{"value":86,"modifier":"EXACT"},"end":{"value":106,"modifier":"EXACT"}},"description":"Helical; 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