InnateDB Protein
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IDBP-13893.6
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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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SCNN1A
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Protein Name
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sodium channel, nonvoltage-gated 1 alpha
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Synonyms
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BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000353292
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InnateDB Gene
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IDBG-13885 (SCNN1A)
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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; Multi-pass membrane protein. Cell projection, cilium. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces.
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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:10586178, ECO:0000269PubMed:15853823, ECO:0000269PubMed:18634878}. 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}.Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021]: 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:19462466}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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:0000269PubMed:22207244, ECO:0000269PubMed:9575806}.
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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 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
24
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [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 |
P37088
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PhosphoSite |
PhosphoSite-P37088
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TrEMBL |
Q6UP09
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UniProt Splice Variant |
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Entrez Gene |
6337
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UniGene |
Hs.591047
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RefSeq |
NP_001153048
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HUGO |
HGNC:10599
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OMIM |
600228
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CCDS |
CCDS53738
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HPRD |
02575
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IMGT |
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EMBL |
AC005840
AC006057
AF060910
AF060911
AF060912
AF060913
AK304379
AY365119
BC006526
BC062613
CH471116
DQ402522
FJ515830
L29007
U81961
X76180
Z92978
Z92979
Z92980
Z92981
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GenPept |
AAA21813
AAC31773
AAC31774
AAD28355
AAH06526
AAH62613
AAQ67341
ABD72218
ACS13721
BAG65217
CAA53773
CAB07505
EAW88804
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