SCNN1A

GENE INFORMATION

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Gene name

SCNN1A (HGNC Symbol)

Synonyms

ENaCalpha, SCNN1

Description

sodium channel, non-voltage-gated 1 alpha subunit (HGNC Symbol)

Entrez gene summary

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

Chromosome

12 (Chromosome progress)

Cytoband

p13.31

Chromosome location (bp)

6456009 - 6486896

Ensembl

ENSG00000111319 (version 73.37)

Entrez gene

6337

UniProt

P37088 (UniProt - Evidence at protein level)

neXtProt

NX_P37088

Antibodypedia

SCNN1A antibodies
 

PROTEIN VIEW

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SCNN1A-001
 
SCNN1A-002
 
SCNN1A-003
 
SCNN1A-004
 
SCNN1A-007
 
SCNN1A-022
 
SCNN1A-023
 
SCNN1A-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCNN1A-001 ENSP00000228916
ENST00000228916
P37088
Show all »
Show » Show » 669 75.7 No 2
SCNN1A-002 ENSP00000353292
ENST00000360168
P37088
Show all »
Show » Show » 728 81.9 No 2
SCNN1A-003 ENSP00000438739
ENST00000543768
P37088
Show all »
Show » Show » 692 78.2 No 2
SCNN1A-004 ENSP00000440876
ENST00000540037
F5GXE6
Show all »
Show » Show » 369 40.9 No 1
SCNN1A-007 ENSP00000443434
ENST00000536788
F5H5F8
Show all »
Show » Show » 159 18.1 No 1
SCNN1A-022 ENSP00000380166
ENST00000396966
J3KPV6
Show all »
Show » Show » 511 59 No 1
SCNN1A-023 ENSP00000345028
ENST00000338748
C5HTZ1
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Show » Show » 245 28.4 No 1
SCNN1A-201 ENSP00000351825
ENST00000358945
E7EVF3
Show all »
Show » Show » 691 78.1 No 2