Protein Details: Amiloride-sensitive sodium channel subunit alpha

Protein ID

ICDB_Pro_0511

Protein Name

Amiloride-sensitive sodium channel subunit alpha

Gene Name

SCNN1A; SCNN1

Organism

Homo sapiens (Human)

Length

669 amino acids

AlphaFoldDB

AF-P37088-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 eccrine sweat glands. Also plays a role in taste perception.

Sequence

MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFEFFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHPMYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPAFMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSCFQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGRGAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP

PDB Structures

2M3O 6BQN 6WTH

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

Disease

Bronchiectasis With Or Without Elevated Sweat Chloride 2 and Pseudohypoaldosteronism;Type Ib1;Autosomal Recessive

Location

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). In the respiratory tract;expressed in the bronchial epithelium (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. in skin;expressed in keratinocytes;melanocytes and Merkel cells of the epidermal sub-layers;stratum basale;stratum spinosum and stratum granulosum (at protein level). Expressed in the outer root sheath of the hair follicles (at protein level). Detected in both peripheral and central cells of the sebaceous gland (at protein level). Expressed by eccrine sweat glands (at protein level) (PubMed:28130590). In skin;also expressed by arrector pili muscle cells and intradermal adipocytes. 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

DOI ID

10.1073/pnas.91.1.247; 10.1152/ajplung.1994.266.6.l728; 10.1007/s004390050743; 10.1203/00006450-199908000-00014; 10.1016/j.jcf.2007.07.012; 10.1038/ng1285; 10.1038/nature04569; 10.1101/gr.2596504; 10.1152/ajpcell.1998.274.5.c1312; 10.1210/mend.15.4.0620; 10.1210/jcem-73-5-936; 10.1152/ajpcell.1998.274.4.c1081; 10.1074/jbc.272.23.14611; 10.1074/jbc.c000906200; 10.1152/ajprenal.00080.2002; 10.1074/jbc.m803931200; 10.1016/j.jsbmb.2008.06.013; 10.1007/s00418-011-0904-1; 10.1074/jbc.m112.363382; 10.1152/ajplung.00103.2013; 10.1016/j.bbapap.2013.04.031; 10.2174/1874467211306010005; 10.1016/j.gene.2015.12.061; 10.1007/s00418-016-1535-3; 10.1161/01.hyp.34.4.631; 10.1074/jbc.c100623200; 10.1681/asn.2016111163; 10.1210/jcem.84.7.5857; 10.1016/s0022-3476(99)70094-6; 10.1210/jcem.87.7.8674; 10.1373/clinchem.2004.046276; 10.1111/j.1365-2265.2005.02255.x; 10.1093/hmg/ddi374; 10.1002/humu.21011

RefSeq

NP_001029.1 [P37088-1]; NP_001153047.1 [P37088-6]; NP_001153048.1 [P37088-2]