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amiloride-sensitive Na+ channel subunit beta; epithelial Na+ channel subunit beta; beta-ENaC; ENaCB; SCNEB; nonvoltage-gated Na+ channel 1 subunit beta; beta-NaCH (SCNN1B)
Function:
- Na+ permeable non-voltage-sensitive ion channel beta subunit
- phosphorylated on Ser & Thr
- phosphorylated by ERK1 & ERK2
- interacts with the WW domains of NEDD4, NEDD4L, WWP1 & WWP2
Structure:
- belongs to the amiloride-sensitive Na+ channel family
Compartment:
- apical cell membrane; multi-pass membrane protein
- apical membrane of epithelial cells
Alternative splicing: named isoforms=2 Pathology:
- defects in SCNN1B are associated with:
a) autosomal recessive pseudohypoaldosteronism type 1 (PHA1)
b) Liddle syndrome
General
amiloride sensitive Na+ channel subunit
phosphoprotein
transmembrane 2 protein
Properties
SIZE: entity length = 640 aa
MW = 73 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-50}
transmembrane domain {51-71}
exoplasmic loop {72-532}
MOTIF: N-glycosylation site {N135}
N-glycosylation site {N141}
N-glycosylation site {N199}
N-glycosylation site {N207}
N-glycosylation site {N260}
N-glycosylation site {N364}
N-glycosylation site {N378}
N-glycosylation site {N449}
N-glycosylation site {N484}
transmembrane domain {533-553}
cytoplasmic domain {554-640}
Database Correlations
OMIM correlations
MORBIDMAP 600760
UniProt P51168
Pfam PF00858
Entrez Gene 6338
Kegg hsa:6338
References
- UniProt :accession P51168
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNN1B
Component-of
amiloride-sensitive Na+ channel or lung Na+ channel