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0SCNND_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameSCNN1D
DescriptionAmiloride-sensitive sodium channel delta-subunit (epithelial na+ channel delta subunit) (delta enac) (nonvoltage-gated sodium channel 1 delta subunit) (scned) (delta nach).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0015280 amiloride-sensitive sodium channel activity (TAS)
0006814 sodium ion transport (TAS)

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Domain Architecture (Details)
InterPro domains unassigned to SynO:
The apical membrane of many tight epithelia contains sodium channels thatare primarily characterised by their high affinity to the diuretic blockeramiloride . These channels mediate the first step of active sodiumreabsorption essential for the maintenance of body salt and waterhomeostasis . In vertebrates.he channels control reabsorption ofsodium in kidney.olon.ung and sweat glands; they also play a role intaste perception.Members of the epithelial Na+ channel (ENaC) family fall into foursubfamilies.ermed alpha.eta.amma and delta . The proteins exhibitthe same apparent topology.ach with two transmembrane (TM) spanningsegments.eparated by a large extracellular loop. In most ENaC proteinsstudied to date.he extracellular domains are highly conserved and containnumerous cysteine residues.ith flanking C-terminal amphipathic TM regions.ostulated to contribute to the formation of the hydrophilic pores of theoligomeric channel protein complexes. It is thought that the well-conservedextracellular domains serve as receptors to control the activities of thechannels.Vertebrate ENaC proteins are similar to degenerins of Caenorhabditis elegans: deg-1.el-1.ec-4.ec-10 and unc-8. These proteins can be mutated to cause neuronal degradation.nd are also thought to form sodium channels.Structurally.he proteins that belong to this family consist of about 510to 920 amino acid residues. They are made of an intracellular N-terminusregion followed by a transmembrane domain. large extracellular loop.second transmembrane segment and a C-terminal intracellular tail .
  IPR001873:Na+ channel, amiloride-sensitive
The epithelial Na+ channel (ENaC) proteins consist of sodium channels from animals and has no recognizable homologues in other eukaryotes or bacteria. The vertebrate ENaC proteins from epithelial cells cluster tightly together on the phylogenetic tree: voltage-insensitive ENaC homologues are also found in the brain. Eleven sequenced Caenorhabditis elegans proteins.ncluding the degenerins ().re distantly related to the vertebrate proteins as well as to each other. At least some of the proteins in this group form part of a mechano-transducing complex for touch sensitivity. Others include the acid-sensing ion channels.SIC1-3 that are homo- or hetero-oligomeric neuronal H+-gated channels that mediate pain sensation in response to tissue acidosis. Mammalian ENaC is important for the maintenance of Na+ balance and the regulation of blood pressure. Three homologous ENaC subunits.. and g.ave been shown to assemble to form the highly Na+-selective channel.
  IPR004724:Epithelial sodium channel
IPR001873:ASC 
Evalue:-208.200653076172 
Location:63-550
SequencesProtein: SCNND_HUMAN (638 aa)
mRNA: NM_002978
Local Annotation
Synapse Ontology
Na channel plays an important role in the course of action potential.
sdb:0287 Na channel  (Evidence:keywords)
KO assignmentK04826
  Level 3 annotation:
    sodium channel, nonvoltage-gated 1, delta
  Level 2 annotation:
    Ion channels
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 41 residues, 1207438-1207558Exon2: 39 residues, 1209220-1209333Exon3: 119 residues, 1211168-1211521Exon4: 71 residues, 1212010-1212218Exon5: 65 residues, 1212351-1212542Exon6: 31 residues, 1212750-1212839Exon7: 56 residues, 1212915-1213079Exon8: 35 residues, 1213181-1213280Exon9: 41 residues, 1215513-1215631Exon10: 28 residues, 1215719-1215798Exon11: 21 residues, 1215879-1215937Exon12: 21 residues, 1216137-1216196Exon13: 27 residues, 1216307-1216383Exon14: 260 residues, 1216496-1217272Exon15: 2 residues, -Jump to SCNND_HUMAN  
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Loci Cluster (Details)Loci: 2469 938741-939776 ~-1K 23(G1P2)(+)Loci: 2470 945365-981355 ~-36K 24(AGRN)(+)Loci: 2471 1207438-1217272 ~-10K 59(SCNN1D)(+)Loci: 2472 1540746-1555847 ~-15K 98(MIB2)(+)Loci: 2473 1940702-1952050 ~-11K 141(GABRD)(+)Loci: 2474 1971768-2106692 ~-135K 142(PRKCZ)(+)Loci: 2468 885829-890958 ~-5K 15(KLHL17)(+)Link out to UCSC