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

Gene ID: 6337, updated on 4-Oct-2020

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
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; 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

Genomic context

See SCNN1A in Genome Data Viewer
Location:
12p13.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6346847..6377359, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6456009..6486896, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TNF receptor superfamily member 1A Neighboring gene Sharpr-MPRA regulatory region 11848 Neighboring gene uncharacterized LOC112268088 Neighboring gene uncharacterized LOC107984500 Neighboring gene RNA, 7SL, cytoplasmic 391, pseudogene Neighboring gene uncharacterized LOC105369626 Neighboring gene lymphotoxin beta receptor Neighboring gene ribosomal protein L31 pseudogene 10 Neighboring gene CD27 antisense RNA 1 Neighboring gene signal recognition particle 14 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive pseudohypoaldosteronism type 1
MedGen: C1449843 OMIM: 264350 GeneReviews: Not available
Compare labs
Bronchiectasis with or without elevated sweat chloride 2
MedGen: C2751666 OMIM: 613021 GeneReviews: Not available
Compare labs
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
GeneReviews: Not available
LIDDLE SYNDROME 3
MedGen: C4748292 OMIM: 618126 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21883

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
multicellular organismal water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
sperm principal piece ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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

  1. NG_011945.2 RefSeqGene

    Range
    6795..35511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001038.6NP_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
    P37088
    Related
    ENSP00000228916.2, ENST00000228916.7
    Conserved Domains (2) summary
    TIGR00859
    Location:54647
    ENaC; sodium channel transporter
    TIGR00867
    Location:62572
    deg-1; degenerin
  2. NM_001159575.2NP_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/Swiss-Prot
    P37088
    Related
    ENSP00000438739.1, ENST00000543768.1
    Conserved Domains (2) summary
    TIGR00859
    Location:77670
    ENaC; sodium channel transporter
    TIGR00867
    Location:85595
    deg-1; degenerin
  3. NM_001159576.2NP_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/Swiss-Prot
    P37088
    Related
    ENSP00000353292.3, ENST00000360168.7
    Conserved Domains (2) summary
    TIGR00859
    Location:113706
    ENaC; sodium channel transporter
    TIGR00867
    Location:121631
    deg-1; degenerin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6346847..6377359 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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