Protein Details: Amiloride-sensitive sodium channel subunit beta
Protein ID
ICDB_Pro_0577
Protein Name
Amiloride-sensitive sodium channel subunit beta
Gene Name
SCNN1B
Organism
Homo sapiens (Human)
Length
640 amino acids
AlphaFoldDB
AF-P51168-F1-model_v4.pdb
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.
Sequence
Ligand Binding
Binding Site
Disease
Liddle Syndrome 1 and Bronchiectasis With Or Without Elevated Sweat Chloride 1
Location
Detected in placenta;lung and kidney (PubMed:7762608). Expressed in kidney (at protein level).
DOI ID
10.1006/geno.1995.1188; 10.1152/ajpcell.1995.268.5.c1157; 10.1006/bbrc.1998.9625; 10.1210/jcem.87.7.8674; 10.1101/gr.2596504; 10.1006/geno.1999.5927; 10.1016/0092-8674(94)90250-x; 10.1210/jcem-73-5-936; 10.1074/jbc.270.46.27411; 10.1074/jbc.272.23.14611; 10.1074/jbc.c000906200; 10.1152/ajprenal.00080.2002; 10.1074/jbc.m512293200; 10.1016/j.jsbmb.2008.06.013; 10.1016/j.jsbmb.2010.01.002; 10.1007/s00418-011-0904-1; 10.1074/jbc.m112.363382; 10.1152/ajplung.00103.2013; 10.2174/1874467211306010005; 10.1073/pnas.1311999110; 10.1016/j.gene.2015.12.061; 10.1038/ng0995-76; 10.1073/pnas.92.25.11495; 10.1172/jci118606; 10.1038/ng0396-248; 10.1161/01.hyp.32.1.129; 10.1210/jcem.83.6.5030; 10.1097/00004872-199816080-00008; 10.1210/jcem.84.7.5857; 10.1097/00004872-200305000-00016; 10.1111/j.1365-2265.2005.02255.x; 10.1093/hmg/ddi374; 10.1210/jc.2004-1027; 10.1126/science.1133427; 10.1186/1465-9921-9-46; 10.1378/chest.08-2246
RefSeq
NP_000327.2 [P51168-1]