Homo sapiens Gene: SCNN1A
Summary
InnateDB Gene IDBG-13885.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SCNN1A
Gene Name sodium channel, non-voltage-gated 1 alpha subunit
Synonyms BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1;
Species Homo sapiens
Ensembl Gene ENSG00000111319
Encoded Proteins
sodium channel, nonvoltage-gated 1 alpha
sodium channel, nonvoltage-gated 1 alpha
sodium channel, nonvoltage-gated 1 alpha
sodium channel, nonvoltage-gated 1 alpha
sodium channel, nonvoltage-gated 1 alpha
sodium channel, nonvoltage-gated 1 alpha
sodium channel, nonvoltage-gated 1 alpha
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:6346843-6377730
Strand Reverse strand
Band p13.31
Transcripts
ENST00000228916 ENSP00000228916
ENST00000338748 ENSP00000345028
ENST00000360168 ENSP00000353292
ENST00000366131
ENST00000396966 ENSP00000380166
ENST00000457871
ENST00000540037 ENSP00000440876
ENST00000543768 ENSP00000438739
ENST00000539953
ENST00000539030
ENST00000538979
ENST00000541249
ENST00000542966
ENST00000536087
ENST00000544882
ENST00000536176
ENST00000543585
ENST00000536788 ENSP00000443434
ENST00000542260
ENST00000542436
ENST00000538957
ENST00000545605
ENST00000536411
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 24 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005272 sodium channel activity
GO:0005515 protein binding
GO:0015280 ligand-gated sodium channel activity
GO:0050699 WW domain binding
Biological Process
GO:0006814 sodium ion transport
GO:0007588 excretion
GO:0034220 ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0050878 regulation of body fluid levels
GO:0050891 multicellular organismal water homeostasis
GO:0050896 response to stimulus
GO:0050909 sensory perception of taste
GO:0055078 sodium ion homeostasis
GO:0055085 transmembrane transport
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030864 cortical actin cytoskeleton
GO:0031514 motile cilium
GO:0034706 sodium channel complex
GO:0060170 ciliary membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Stimuli-sensing channels pathway
Ion channel transport pathway
KEGG
Taste transduction pathway
Aldosterone-regulated sodium reabsorption pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P37088
TrEMBL F5GXE6
UniProt Splice Variant
Entrez Gene 6337
UniGene Hs.591047
RefSeq NM_001159575 NM_001038 NM_001159576
HUGO HGNC:10599
OMIM 600228
CCDS CCDS53739 CCDS8543 CCDS53738
HPRD 02575
IMGT
EMBL AC005840 AC006057 AF060910 AF060911 AF060912 AF060913 AK304379 BC006526 BC062613 CH471116 DQ402522 FJ515830 L29007 U81961 X76180 Z92978 Z92979 Z92980 Z92981
GenPept AAA21813 AAC31773 AAC31774 AAD28355 AAH06526 AAH62613 ABD72218 ACS13721 BAG65217 CAA53773 CAB07505 EAW88804
RNA Seq Atlas 6337