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amiloride-sensitive Na+ channel subunit alpha; epithelial Na+ channel subunit alpha; alpha-ENaC; SCNEA; nonvoltage-gated Na+ channel 1 subunit alpha; alpha-NaCH (SCNN1A, SCNN1)
Function:
- Na+ permeable non-voltage-sensitive ion channel alpha subunit
- interacts with WW domains of NEDD4, NEDD4L, WWP1, WWP2
- ubiquitinated; this targets individual subunits for endocytosis & proteasome-mediated degradation (putative)
Structure:
- belongs to the amiloride-sensitive Na+ channel family
Compartment:
- apical cell membrane; multi-pass membrane protein
- apical membrane of epithelial cells Alternate splicing: 5 alternate splice forms
Expression:
- highly expressed in lung & kidney
- intermediate levels in pancreas & liver
- low levels in heart & placenta
- induced by aldosterone Pathology:
- mutations associated with:
- autosomal recessive pseudohypoaldosteronism type 1 (PHA1)
General
amiloride sensitive Na+ channel subunit
plasma membrane protein
Properties
SIZE: entity length = 669 aa
MW = 76 kD
COMPARTMENT: plasma membrane
MOTIF: cytoplasmic domain {1-85}
transmembrane domain {86-106}
exoplasmic loop {107-562}
MOTIF: N-glycosylation site {N232}
N-glycosylation site {N293}
N-glycosylation site {N312}
N-glycosylation site {N397}
N-glycosylation site {N511}
transmembrane domain {563-583}
cytoplasmic domain {584-669}
Database Correlations
OMIM correlations
MORBIDMAP 600228
UniProt P37088
Pfam PF00858
Entrez Gene 6337
Kegg hsa:6337
References
- UniProt :accession P37088
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNN1A
Component-of
amiloride-sensitive Na+ channel or lung Na+ channel