SCNN1A sodium channel epithelial 1 subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCNN1Aprovided by HGNC
Official Full Name: sodium channel epithelial 1 subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:10599
See related: Ensembl:ENSG00000111319 MIM:600228; AllianceGenome:HGNC:10599
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha
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]
Expression: Broad expression in kidney (RPKM 50.6), colon (RPKM 38.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (6346847..6377359, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (6356269..6387417, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (6456013..6486525, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial.
Title: Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial.
Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion.
Title: Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion.
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Title: A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Rare Variants in Genes Encoding Subunits of the Epithelial Na[+] Channel Are Associated With Blood Pressure and Kidney Function.
Title: Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.
Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis.
Title: Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis.
Knocking down Sterol regulatory element binding protein 2 (SREBF2) inhibits the Serine Protease 8 (PRSS8) /sodium channel epithelial 1alpha subunit (SCNN1A) axis to reduce the cell proliferation, migration and epithelial-mesenchymal transformation of ovarian cancer.
Title: Knocking down Sterol regulatory element binding protein 2 (SREBF2) inhibits the Serine Protease 8 (PRSS8) /sodium channel epithelial 1alpha subunit (SCNN1A) axis to reduce the cell proliferation, migration and epithelial-mesenchymal transformation of ovarian cancer.
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.
Title: Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.
HOXD9induced SCNN1A upregulation promotes pancreatic cancer cell proliferation, migration and predicts prognosis by regulating epithelialmesenchymal transformation.
Title: HOXD9‑induced SCNN1A upregulation promotes pancreatic cancer cell proliferation, migration and predicts prognosis by regulating epithelial‑mesenchymal transformation.
Epithelial Sodium Channel and Salt-Sensitive Hypertension.
Title: Epithelial Sodium Channel and Salt-Sensitive Hypertension.
The epithelial sodium channel has a role in breast cancer cell proliferation.
Title: The epithelial sodium channel has a role in breast cancer cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bronchiectasis with or without elevated sweat chloride 2 MedGen: C2751666 OMIM: 613021 GeneReviews: Not available	not available
Liddle syndrome 3 MedGen: C4748292 OMIM: 618126 GeneReviews: Not available	not available
Pseudohypoaldosteronism, type IB1, autosomal recessive MedGen: C5774176 OMIM: 264350 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80869 (e-PCR)
- UniSTS:85032

STS-X76180 (e-PCR)
- UniSTS:61576

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ligand-gated sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	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 multicellular organismal-level water homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
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
involved_in sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
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	IPI Inferred from Physical Interaction more info	PubMed
located_in sperm principal piece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: amiloride-sensitive sodium channel subunit alpha

Names: alpha ENaC-2; alpha-ENaC; alpha-NaCH; amiloride-sensitive epithelial sodium channel alpha subunit; amiloride-sensitive sodium channel subunit alpha 2; epithelial Na(+) channel subunit alpha; nasal epithelial sodium channel alpha subunit; nonvoltage-gated sodium channel 1 subunit alpha; sodium channel epithelial 1 alpha subunit; sodium channel, non voltage gated 1 alpha subunit; sodium channel, non-voltage-gated 1 alpha; sodium channel, nonvoltage-gated 1 alpha

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.

Genomic

NG_011945.2 RefSeqGene

Range

6795..35511

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001038.6 → NP_001029.1 amiloride-sensitive sodium channel subunit alpha isoform 1

See identical proteins and their annotated locations for NP_001029.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as alpha-ENaC1) represents the predominant transcript, and encodes isoform 1.

Source sequence(s)

DB232484, X76180

Consensus CDS

CCDS8543.1

UniProtKB/Swiss-Prot

A5X2U9, B4E2Q5, C5HTZ0, O43271, P37088, Q6GSQ6, Q9UM64

UniProtKB/TrEMBL

C5HTY9

Related

ENSP00000228916.2, ENST00000228916.7

Conserved Domains (1) summary

TIGR00859
Location:54 → 647

ENaC; sodium channel transporter
NM_001159575.2 → NP_001153047.1 amiloride-sensitive sodium channel subunit alpha isoform 3

See identical proteins and their annotated locations for NP_001153047.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 5' coding region, and uses an in-frame upstream start codon compared to variant 1. This results in an isoform (3) with a longer N-terminus compared to isoform 1.

Source sequence(s)

AC005840, AK304379, X76180

Consensus CDS

CCDS53739.1

UniProtKB/TrEMBL

C5HTY8

Related

ENSP00000438739.1, ENST00000543768.1

Conserved Domains (2) summary

TIGR00859
Location:77 → 670

ENaC; sodium channel transporter

TIGR00867
Location:85 → 595

deg-1; degenerin
NM_001159576.2 → NP_001153048.1 amiloride-sensitive sodium channel subunit alpha isoform 2

See identical proteins and their annotated locations for NP_001153048.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as alpha-ENaC2) contains an alternate segment in the 5' coding region, and uses an in-frame upstream start codon compared to variant 1. This results in an isoform (2) with a longer N-terminus compared to isoform 1.

Source sequence(s)

AC005840, AK172792, BC006526

Consensus CDS

CCDS53738.1

UniProtKB/TrEMBL

C5HTY8

Related

ENSP00000353292.3, ENST00000360168.7

Conserved Domains (2) summary

TIGR00859
Location:113 → 706

ENaC; sodium channel transporter

TIGR00867
Location:121 → 631

deg-1; degenerin