Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SCNN1D contributors: mct - updated : 06-06-2012
HGNC name sodium channel, nonvoltage-gated 1, delta
HGNC id 10601
Location 1p36.33      Physical location : 1.217.488 - 1.227.409
Synonym name
  • epithelial Na(+) channel subunit delta
  • sodium channel, voltage-gated, type I, delta polypeptide
  • Synonym symbol(s) ASCD, ENaCd, ENaCdelta, SCNED, dNaCh, MGC149710, MGC149711
    DNA
    TYPE functioning gene
    STRUCTURE 11.60 kb     18 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ22639 1p36.33 hypothetical protein FLJ22639 LOC284591 1p36.33 hypothetical protein LOC284591 LOC388773 1 similar to chromosome 14 open reading frame 24 LOC388579 1 similar to beta-tubulin 4Q LOC388580 1 hypothetical gene supported by AF148950 FLJ20584 1p36.33 hypothetical protein FLJ20584 LOC390987 1 similar to F12M16.16 FLJ36119 1p36.33 hypothetical protein FLJ36119 TNFRSF18 1p36.3 tumor necrosis factor receptor superfamily, member 18 TNFRSF4 1p36 tumor necrosis factor receptor superfamily, member 4 Cab45 1p36.33 calcium binding protein Cab45 precursor B3GALT6 1p36.33 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 LOC388581 1 similar to RIKEN cDNA 1110035L05 UBE2J2 1p36.33 ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast) SCNN1D 1p36.33 sodium channel, nonvoltage-gated 1, delta CENTB5 1p36 centaurin, beta 5 FLJ90811 1p36.33 hypothetical protein FLJ90811 LOC388774 1 similar to hypothetical protein FLJ20542 1p36.33 hypothetical protein FLJ20542 TAS1R3 1p36.33 taste receptor, type 1, member 3 DVL1 1p36.33 dishevelled, dsh homolog 1 (Drosophila) MGC3047 1p36.33 hypothetical protein MGC3047 AKIP 1p36.33 aurora-A kinase interacting protein LOC388775 1 similar to testis-specific protein NYD-TSP1 MRPL20 1p36.3-36.2 mitochondrial ribosomal protein L20 LOC391207 1 LOC391207 LOC388582 1 LOC388582 WARP 1p36.33 von Willebrand factor A domain-related protein FLJ37183 1p36.33 FLJ37183 protein TOB3 1p36.33 FLJ37183 protein FLJ10709 1p36.33 hypothetical protein FLJ10709 TLR5 1q33.3 toll-like receptor 5 LOC339453 1p36.33 hypothetical LOC339453 HSPC182 1p36.33 HSPC182 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 splicing 3063 - 802 - 2006 16930535
  • delta1-subunit
  • delta(1) and delta(2) , differing in the N-terminal sequence
  • 14 splicing 2503 70.1 638 - 2006 16930535
  • lacking an internal exon in the CDS compared to variant 1
  • - - - - - expressed with the original delta-subunit (delta1-subunit) at the same level in the brain 2006 16930535
  • delta(1) and delta(2) differing in the N-terminal sequence
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly Homo sapiens
    Endocrinepancreas   highly
    Nervousbrain     Homo sapiens
    Reproductivefemale systembreastmammary gland moderately
     male systemtestis  predominantly
    Urinarykidneytubulecollecting duct highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    Nervousneuron 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
  • a C terminal cluster of positively charged AA
  • a conserved proline-rich amino-acid sequence (PPxY motif) inhibiting Na+ reabsorption by interacting with NEDD4
  • conjugated GlycoP
    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
  • multi-pass membrane protein
  • basic FUNCTION
  • epithelial amiloride-sensitive sodium channel, non-voltage gated, controling the reabsorption of sodium in kidney, colon, lung and sweat glands
  • also playing a role in taste perception
  • candidate molecule for pH sensing in the gastrointestinal system
  • alters proteolytic channel activation and enhances base-line channel activity
  • undergoes dynamin-independent endocytosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text Na+ transport
    PATHWAY
    metabolism
    signaling sensory transduction/taste
    a component
  • component of a heterotetramer including two SCNN1D, one SCNN1B and one SCNN1G
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COMMD1 associate with SCNN1D and downregulate its activity
  • CNKSR3 physically interacts with SCNN1A, B, D, NEDD4L, and SGK1 and stimulates SCNN1A, SCNN1B, SCNN1D function in a PDZ domain-dependent, aldosterone-induced manner
  • cell & other
    REGULATION
    inhibited by the diuretic amiloride
    Other regulated by COMMD1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestive  
    therapeutic target for gastro-oesophageal reflux disease
    ANIMAL & CELL MODELS