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FLASH GENE
Symbol SCNN1A contributors: mct/npt - updated : 14-12-2009
HGNC name sodium channel, nonvoltage-gated 1 alpha
HGNC id 10599
Corresponding disease
BESC2 bronchiectasis with or without elevated sweat chloride 2
PHA1B pseudohypoaldosteronism, type 1 B
Location 12p13.31      Physical location : 6.456.010 - 6.486.523
Synonym name
  • sodium channel epithelial, alpha subunit
  • epithelial Na(+) channel subunit alpha
  • amiloride-sensitive epithelial sodium channel alpha subunit
  • nasal epithelial sodium channel alpha subunit
  • Synonym symbol(s) SCNL, ENACA, SCNN1, SCNEA, ENaCalpha, Alpha-NaCH, ENaCa, FLJ21883, ENAC
    DNA
    TYPE functioning gene
    STRUCTURE 28.70 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU
    text structure eight alu sequences
    MAPPING cloned Y linked   status confirmed
    Map pter - D12S372 - D12S314 - [D12S93 - CD4 - SCNN1A ,D12S374 - D12S356 ] - D12S77 - D12S89 ,D12S96 - cen
    Authors Strautnieks (96)
    Physical map
    CD9 12p13.31 CD9 antigen (p24) FLJ10665 12p13.32 hypothetical protein FLJ10665 TNFRSF1A 12p13.2 tumor necrosis factor receptor superfamily, member 1A SCNN1A 12p13.3 sodium channel, nonvoltage-gated 1 alpha LTBR 12p13.31 lymphotoxin beta receptor (TNFR superfamily, member 3) LOC390283 12 hypothetical gene supported by X15940; NM_000993 LOC390284 12 similar to signal recognition particle 14kDa (homologous Alu RNA binding protein); signal recognition particle 14kD (homologous Alu RNA-binding protein); signal recognition particle 14kD (homologous Alu RNA binding protein) TNFRSF7 12p13 tumor necrosis factor receptor superfamily, member 7 TAPBP-R 12p13.31 TAP binding protein related VAMP1 12p13.31-p13.2 vesicle-associated membrane protein 1 (synaptobrevin 1) PKP2P1 12p13 vesicle-associated membrane protein 1 (synaptobrevin 1) MRPL51 12p13.3-p13.1 mitochondrial ribosomal protein L51 CNAP1 12p13.3 chromosome condensation-related SMC-associated protein 1 GAPD 12p13.31 glyceraldehyde-3-phosphate dehydrogenase HOM-TES-103 12p13.3 HOM-TES-103 tumor antigen-like NOL1 12p13.31 nucleolar protein 1, 120kDa CHD4 12p13 chromodomain helicase DNA binding protein 4 GPR92 12p13.32 G protein-coupled receptor 92 ACRBP 12p13.32 acrosin binding protein ING4 12p13.32 inhibitor of growth family, member 4 ZNF384 12p12 zinc finger protein 384
    RNA
    TRANSCRIPTS type messenger
    text a splice variant with an Alu cassette in 3'UTR
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3497 - 728 - -
    13 - 3345 - 669 - Azad (2009)
    - - 3216 - 692 - Azad (2009)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain   moderately
    Reproductivemale systemprostate   
    Respiratorylung   highly Homo sapiens
    urinarykidneynephrondistal convoluted tubule  
    Urinarykidneytubulecollecting duct highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryalveolar cell type II Homo sapiens
    Respiratoryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • (at least) two membrane spanning segments, several glycosylation and a nucleotide binding sites
  • a N terminal cluster of negatively charged AA forming a cytoslic domain reactive at the plasma
  • a C terminal cluster of positively charged AA forming a cytosolic domain reactive at the plasma, including a PPxY motif of interaction with the WW motif of NEDD4
  • mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • degenerin/ENaC superfamily of non-voltage-gated, highly amiloride-sensitive cation channels
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text luminal membrane of the collecting tubule of kidney, (NHE4-PEN), apical membrane
    basic FUNCTION
  • controlling the reabsorption of sodium in kidney, colon, lung and sweat glands
  • playing a role in taste perception
  • assembly and targeting of an active chanel to the surface of the cell
  • plays a key role in salt homoeostasis and in regulating blood pressure (Wiemuth 2007)
  • multi-ubiquitinated at the cell surface (Wiemuth 2007)
  • plays an important role in fluid absorption in the endolymphatic sac and its function may be altered during inflammatory conditions (Kim 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a heterotetramer including two SCNN1A, one SCNN1B and one SCNN1G
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEDD4
  • SCNN1A and CFTR physically associate in mammalian cells (limiting proteolytic cleavage of SCNN1A is a mechanism by which CFTR down-regulates Na+ absorption)
  • cell & other
    REGULATION
    inhibited by NEDD4L (major inactivating enzyme for SCNN1A in urinary tubular cells) (Araki 2009)
    Other regulated by aldosterone
    regulated by CFTR (CFTR stabilizes SCNN1A at the plasma membrane, suggesting that CFTR regulates its stability)(Lu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) PHA1B , BESC2
    Susceptibility HTA and proteinuria
    Variant & Polymorphism SNP A(2139)G, A to G
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS