Scnn1a sodium channel, nonvoltage-gated 1 alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scnn1aprovided by MGI
Official Full Name: sodium channel, nonvoltage-gated 1 alphaprovided by MGI
Primary source: MGI:MGI:101782
See related: Ensembl:ENSMUSG00000030340 AllianceGenome:MGI:101782
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ENaC; SCNEA; Scnn1; mENaC
Summary: Enables WW domain binding activity and ligand-gated sodium channel activity. Contributes to sodium channel activity. Acts upstream of or within cellular response to aldosterone and sodium ion transport. Located in cytosol and external side of plasma membrane. Is integral component of membrane. Part of plasma membrane protein complex and sodium channel complex. Is expressed in several structures, including colon; heart; hindgut; liver; and lung. Human ortholog(s) of this gene implicated in Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; bronchiectasis 2; and pseudohypoaldosteronism. Orthologous to human SCNN1A (sodium channel epithelial 1 subunit alpha). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 90.9), colon adult (RPKM 43.3) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F3; 6 59.32 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (125286657..125321906)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (125314271..125344943)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of Angiotensin II Type 1a Receptor (AT1aR) of Renal Tubules in Regulating Inwardly Rectifying Potassium Channels 4.2 (Kir4.2), Kir4.1, and Epithelial Na[+] Channel (ENaC).
Title: Role of Angiotensin II Type 1a Receptor (AT1aR) of Renal Tubules in Regulating Inwardly Rectifying Potassium Channels 4.2 (Kir4.2), Kir4.1, and Epithelial Na(+) Channel (ENaC).
Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity.
Title: Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity.
P2Y2 receptor decreases blood pressure by inhibiting ENaC.
Title: P2Y2 receptor decreases blood pressure by inhibiting ENaC.
Accessibility of ENaC extracellular domain central core residues.
Title: Accessibility of ENaC extracellular domain central core residues.
Ferulic acid ameliorates lipopolysaccharide-induced tracheal injury via cGMP/PKGII signaling pathway.
Title: Ferulic acid ameliorates lipopolysaccharide-induced tracheal injury via cGMP/PKGII signaling pathway.
Cell-specific EnNaC is important in propagating pulsatility into the renal circulation, generating oxidant stress, reduced bioavailable NO, and renal vessel wall fibrosis and stiffening.
Title: Western diet induces renal artery endothelial stiffening that is dependent on the epithelial Na(+) channel.
Estrogen treatment decreased alpha-ENaC expression but increased derlin-1 expression in mouse renal collecting duct (mpkCCDc14) cells.
Title: Estrogen negatively regulates the renal epithelial sodium channel (ENaC) by promoting Derlin-1 expression and AMPK activation.
Epithelial Na(+) channel's (ENaC) able to mediate shear force responsiveness relies on the "force-from-filament" principle involving extracellular tethers and the extracellular matrix. Two glycosylated asparagines, respectively their N-glycans localized in the palm and knuckle domains of alphaENaC, were identified as potential tethers. Endothelial-specific overexpression of alphaENaC in mice induced hypertension.
Title: Shear force sensing of epithelial Na(+) channel (ENaC) relies on N-glycosylated asparagines in the palm and knuckle domains of αENaC.
Autosomal dominant polycystic kidney disease cysts epithelia exhibit a hyperexpression of pannexin-1 and P2X7 proteins. Pannexin-1 in renal epithelial cells mediates ATP release into the lumen. P2X7 activation shown earlier to facilitate Panx1 conductance, reduces ENaC activity.
Title: ATP release into ADPKD cysts via pannexin-1/P2X7 channels decreases ENaC activity.
This study demonstrates that CLDN7 plays an important role in salt balance in renal CD cells and modulating WNK4 and ENaC expression levels that are vital in controlling salt-sensitive hypertension.
Title: Claudin-7 Modulates Cl(-) and Na(+) Homeostasis and WNK4 Expression in Renal Collecting Duct Cells.

Submit: New GeneRIF Correction See all GeneRIFs (137)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EC218RL (e-PCR), detects polymorphism
- UniSTS:142951

EC351RL (e-PCR), detects polymorphism
- UniSTS:142953

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables WW domain binding	ISO Inferred from Sequence Orthology more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables ligand-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ligand-gated sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated sodium channel activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to ligand-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
contributes_to sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to sodium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to aldosterone	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to aldosterone	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to vasopressin	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of body fluid levels	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of salty taste	NAS Non-traceable Author Statement more info	PubMed
involved_in sensory perception of sour taste	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within sensory perception of taste	IEA Inferred from Electronic Annotation more info
involved_in sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sodium ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sodium ion transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	ISO Inferred from Sequence Orthology more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cortical actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium channel complex	IGI Inferred from Genetic Interaction more info	PubMed
part_of sodium channel complex	ISO Inferred from Sequence Orthology more info
located_in sperm principal piece	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amiloride-sensitive sodium channel subunit alpha

Names: ENaC alpha; alpha-ENaC; alpha-NaCH; amiloride-sensitive epithelial sodium channel; epithelial Na(+) channel subunit alpha; epithelial sodium channel alpha subunit; nonvoltage-gated sodium channel 1 subunit alpha; sodium channel, nonvoltage-gated, type I, alpha polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001406028.1 → NP_001392957.1 amiloride-sensitive sodium channel subunit alpha isoform 2

Status: VALIDATED

Source sequence(s)

AC140324
NM_001406031.1 → NP_001392960.1 amiloride-sensitive sodium channel subunit alpha isoform 2

Status: VALIDATED

Source sequence(s)

AC140324
NM_011324.3 → NP_035454.3 amiloride-sensitive sodium channel subunit alpha isoform 1

Status: VALIDATED

Source sequence(s)

AC140324

Consensus CDS

CCDS39641.2

UniProtKB/Swiss-Prot

Q61180, Q9WU37

Related

ENSMUSP00000080164.9, ENSMUST00000081440.14

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

125286657..125321906

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030255276.2 → XP_030111136.1 amiloride-sensitive sodium channel subunit alpha isoform X2

UniProtKB/TrEMBL

Q80YC1

Conserved Domains (1) summary

cl02990
Location:1 → 349

ASC; Amiloride-sensitive sodium channel
XM_017321471.3 → XP_017176960.1 amiloride-sensitive sodium channel subunit alpha isoform X1

UniProtKB/TrEMBL

H3BLI2

Conserved Domains (1) summary

TIGR00859
Location:25 → 539

ENaC; sodium channel transporter
XM_036165971.1 → XP_036021864.1 amiloride-sensitive sodium channel subunit alpha isoform X2

UniProtKB/TrEMBL

Q80YC1

Conserved Domains (1) summary

cl02990
Location:1 → 349

ASC; Amiloride-sensitive sodium channel