InnateDB Protein
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IDBP-20275.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SCNN1B
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Protein Name
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sodium channel, nonvoltage-gated 1, beta
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Synonyms
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BESC1; ENaCb; ENaCbeta; SCNEB;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000302874
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InnateDB Gene
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IDBG-20271 (SCNN1B)
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Protein Structure
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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:0000269PubMed:24124190}.
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Subcellular Localization |
Apical cell membrane {ECO:0000269PubMed:24124190}; Multi-pass membrane protein {ECO:0000269PubMed:24124190}. Note=Apical membrane of epithelial cells.
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Disease Associations |
Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269PubMed:8589714}. Note=The disease is caused by mutations 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:0000269PubMed:18634878}.Liddle syndrome (LIDDS) [MIM:177200]: Autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel. {ECO:0000269PubMed:15483078, ECO:0000269PubMed:7550319, ECO:0000269PubMed:8524790, ECO:0000269PubMed:8601645, ECO:0000269PubMed:9626162, ECO:0000269PubMed:9794716}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:16207733, ECO:0000269PubMed:18507830, ECO:0000269PubMed:19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in kidney (at protein level). {ECO:0000269PubMed:22207244}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
23
[view]
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Protein-Protein |
23
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001873
Na+ channel, amiloride-sensitive
IPR004724
Epithelial sodium channel
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PFAM |
PF00858
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PRINTS |
PR01078
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P51168
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PhosphoSite |
PhosphoSite-P51168
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TrEMBL |
Q8WY57
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UniProt Splice Variant |
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Entrez Gene |
6338
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UniGene |
Hs.414614
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RefSeq |
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HUGO |
HGNC:10600
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OMIM |
600760
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CCDS |
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HPRD |
02861
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IMGT |
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EMBL |
AC130452
AF260226
AF260228
AJ005383
AJ005384
AJ005385
AJ005386
AJ005387
AJ005388
AJ005389
AJ005390
AJ005391
AJ005392
AJ005393
AK313192
BC036352
CH471145
FJ515831
L36593
U16023
X87159
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GenPept |
AAA67036
AAA75459
AAH36352
AAK49394
AAL48196
ACS13723
ACS13724
BAG36009
CAA06508
CAA60632
EAW55834
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