InnateDB Protein
|
IDBP-20224.4
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SCNN1G
|
Protein Name
|
sodium channel, nonvoltage-gated 1, gamma
|
Synonyms
|
BESC3; ENaCg; ENaCgamma; PHA1; SCNEG;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000300061
|
InnateDB Gene
|
IDBG-20222 (SCNN1G)
|
Protein Structure
|
|
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}.
|
Subcellular Localization |
Apical cell membrane {ECO:0000269PubMed:24124190}; Multi-pass membrane protein {ECO:0000269PubMed:24124190}. Note=Apical membrane of epithelial cells.
|
Disease Associations |
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:7550319}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM:613071]: 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:18507830, ECO:0000269PubMed:19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Expressed in kidney (at protein level). {ECO:0000269PubMed:22207244}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
17
[view]
|
Protein-Protein |
17
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
3 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001873
Na+ channel, amiloride-sensitive
IPR004724
Epithelial sodium channel
|
PFAM |
PF00858
|
PRINTS |
PR01078
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P51170
|
PhosphoSite |
PhosphoSite-P51170
|
TrEMBL |
Q6LCK5
|
UniProt Splice Variant |
|
Entrez Gene |
6340
|
UniGene |
Hs.371727
|
RefSeq |
NP_001030
|
HUGO |
HGNC:10602
|
OMIM |
600761
|
CCDS |
CCDS10608
|
HPRD |
02862
|
IMGT |
|
EMBL |
AF356493
AF356494
AF356495
AF356496
AF356497
AF356498
AF356499
AF356500
AF356501
AF356502
BC059391
BC069652
CH471145
DQ402524
FJ515832
L36592
U35630
U48936
U53836
U53837
U53841
U53844
U53845
U53846
U53847
U53848
U53850
U53852
X87160
|
GenPept |
AAA75460
AAC50217
AAC50737
AAC50744
AAC50745
AAC50749
AAC50752
AAC50753
AAC50754
AAC50755
AAC50756
AAC50758
AAC50760
AAH59391
AAH69652
AAK50910
ABD72220
ACS13725
CAA60633
EAW55837
EAW55838
|
|
|