SCNN1B
entrez
6338
canonical
uniprot
P51168
canonical
ensembl
ENSG00000168447
resolver
ensp
ENSP00000302874
resolver
ensp
ENSP00000345751
resolver
ensp
ENSP00000455673
resolver
enst
ENST00000568085
resolver
genesymbol
SCNN1B
resolver
hgnc
HGNC:10600
resolver
uniprot
B2R812
resolver
uniprot
C5HTZ2
resolver
uniprot
H3BQ95
resolver
uniprot
O60891
resolver
uniprot
Q96KG2
resolver
uniprot
Q9UJ32
resolver
uniprot
Q9UMU5
resolver
uniprot_entry
B2R812_HUMAN
resolver
uniprot_entry
H3BQ95_HUMAN
resolver
uniprot_entry
SCNNB_HUMAN
resolver
uniprot_sec
C5HTZ2
resolver
uniprot_sec
O60891
resolver
uniprot_sec
Q96KG2
resolver
uniprot_sec
Q9UJ32
resolver
uniprot_sec
Q9UMU5
resolver
activity_regulation
ACTIVITY REGULATION: Originally identified and characterized by its inhibition by the diuretic drug amiloride. {ECO:0000269|PubMed:7762608, ECO:0000269|PubMed:9792722}.
uniprot
proteins
amino_acid_sequence
MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFAALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELMEAVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATNIFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILDIGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSPCTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDFPDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERDQSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEFGEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPNTGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI
uniprot
proteins
disease_involvement
DISEASE: Pseudohypoaldosteronism 1B2, autosomal recessive (PHA1B2) [MIM:620125]: 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. {ECO:0000269|PubMed:8589714}. Note=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). {ECO:0000269|PubMed:18634878}.; DISEASE: Liddle syndrome 1 (LIDLS1) [MIM:177200]: 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. {ECO:0000269|PubMed:15483078, ECO:0000269|PubMed:7550319, ECO:0000269|PubMed:8524790, ECO:0000269|PubMed:8601645, ECO:0000269|PubMed:9626162, ECO:0000269|PubMed:9794716}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]: 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. {ECO:0000269|PubMed:16207733, ECO:0000269|PubMed:18507830, ECO:0000269|PubMed:19017867}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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:7762608, 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). 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). {ECO:0000269|PubMed:12107247, ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:30251954, ECO:0000269|PubMed:32729833, ECO:0000269|PubMed:7762608, ECO:0000269|PubMed:9792722}.
uniprot
proteins
mass_dalton
72659
uniprot
proteins
mutagenesis
MUTAGEN 620; /note="Y->A: Loss of inhibition of the ENaC channel by NEDD4. Loss of ubiquitination by NEDD4L."; /evidence="ECO:0000269|PubMed:17502380, ECO:0000269|PubMed:9792722
uniprot
proteins
post_translational_modification
PTM: 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 (PubMed:11244092, PubMed:12167593, PubMed:17502380, PubMed:18174164, PubMed:9792722). However, some studies could not confirm the ubiquitination of this subunit of the ENaC (By similarity). {ECO:0000250|UniProtKB:P37090, ECO:0000269|PubMed:11244092, ECO:0000269|PubMed:12167593, ECO:0000269|PubMed:17502380, ECO:0000269|PubMed:18174164, ECO:0000269|PubMed:9792722}.; PTM: Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation. {ECO:0000250|UniProtKB:P37090}.; PTM: N-glycosylated. N-glycosylation is required for interaction with BPIFA1. {ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:7762608}.
uniprot
proteins
protein_family
Amiloride-sensitive sodium channel (TC 1.A.6) family
uniprot
proteins
protein_family
SCNN1B subfamily
uniprot
proteins
pubmed
10404817
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
11244092
uniprot
proteins
pubmed
12107247
uniprot
proteins
pubmed
12167593
uniprot
proteins
pubmed
12714866
uniprot
proteins
pubmed
15483078
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15853823
uniprot
proteins
pubmed
16207733
uniprot
proteins
pubmed
16423824
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17502380
uniprot
proteins
pubmed
18174164
uniprot
proteins
pubmed
18507830
uniprot
proteins
pubmed
18634878
uniprot
proteins
pubmed
19017867
uniprot
proteins
pubmed
1939532
uniprot
proteins
pubmed
20064610
uniprot
proteins
pubmed
22207244
uniprot
proteins
pubmed
22493497
uniprot
proteins
pubmed
24043776
uniprot
proteins
pubmed
24124190
uniprot
proteins
pubmed
26772908
uniprot
proteins
pubmed
30251954
uniprot
proteins
pubmed
32729833
uniprot
proteins
pubmed
7490094
uniprot
proteins
pubmed
7499195
uniprot
proteins
pubmed
7550319
uniprot
proteins
pubmed
7762608
uniprot
proteins
pubmed
7954808
uniprot
proteins
pubmed
8524790
uniprot
proteins
pubmed
8589714
uniprot
proteins
pubmed
8601645
uniprot
proteins
pubmed
9169421
uniprot
proteins
pubmed
9626162
uniprot
proteins
pubmed
9674649
uniprot
proteins
pubmed
9792722
uniprot
proteins
pubmed
9794716
uniprot
proteins
pubmed
9813171
uniprot
proteins
sequence_length
640
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:18174164, ECO:0000269|PubMed:7762608}; Multi-pass membrane protein {ECO:0000269|PubMed:30251954, ECO:0000269|PubMed:32729833}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P37090}; Multi-pass membrane protein {ECO:0000269|PubMed:30251954, ECO:0000269|PubMed:32729833}.
uniprot
proteins
transmembrane_region
TRANSMEM 51..71; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 533..553; /note="Helical; Name=2"; /evidence="ECO:0000255
uniprot
proteins