Human Gene SCNN1D (ENST00000379116.10) from GENCODE V44
  Description: Homo sapiens sodium channel epithelial 1 subunit delta (SCNN1D), transcript variant 2, non-coding RNA. (from RefSeq NR_037668)
Gencode Transcript: ENST00000379116.10
Gencode Gene: ENSG00000162572.21
Transcript (Including UTRs)
   Position: hg38 chr1:1,280,436-1,292,025 Size: 11,590 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr1:1,280,662-1,291,610 Size: 10,949 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:1,280,436-1,292,025)mRNA (may differ from genome)Protein (802 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCNND_HUMAN
DESCRIPTION: RecName: Full=Amiloride-sensitive sodium channel subunit delta; AltName: Full=Delta-NaCH; AltName: Full=Epithelial Na(+) channel subunit delta; Short=Delta-ENaC; Short=ENaCD; AltName: Full=Nonvoltage-gated sodium channel 1 subunit delta; AltName: Full=SCNED;
FUNCTION: Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
SUBUNIT: Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit.
INTERACTION: Q8N668:COMMD1; NbExp=3; IntAct=EBI-2547114, EBI-1550112;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SCNN1D
Diseases sorted by gene-association score: pseudohypoaldosteronism, type i (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.58 RPKM in Testis
Total median expression: 261.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.20226-0.253 Picture PostScript Text
3' UTR -193.20415-0.466 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004724 - EnaC
IPR001873 - Na+channel_ASC
IPR020903 - Na+channel_ASC_CS

Pfam Domains:
PF00858 - Amiloride-sensitive sodium channel

ModBase Predicted Comparative 3D Structure on P51172
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005272 sodium channel activity
GO:0005515 protein binding
GO:0015280 ligand-gated sodium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0035725 sodium ion transmembrane transport
GO:0050896 response to stimulus
GO:0050909 sensory perception of taste

Cellular Component:
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  DQ898177 - Homo sapiens sodium channel nonvoltage-gated 1 delta (SCNN1D) mRNA, 5' UTR.
AK131558 - Homo sapiens cDNA FLJ16802 fis, clone TESTI4005158, highly similar to Amiloride-sensitive sodium channel delta-subunit.
BC040882 - Homo sapiens, clone IMAGE:5730055, mRNA.
AK127357 - Homo sapiens cDNA FLJ45431 fis, clone BRHIP3039509, highly similar to Amiloride-sensitive sodium channel subunit delta.
BC071784 - Homo sapiens sodium channel, nonvoltage-gated 1, delta, mRNA (cDNA clone IMAGE:4609933).
AK093239 - Homo sapiens cDNA FLJ35920 fis, clone TESTI2010591, highly similar to AMILORIDE-SENSITIVE SODIUM CHANNEL DELTA-SUBUNIT.
AX748006 - Sequence 1531 from Patent EP1308459.
AK315288 - Homo sapiens cDNA, FLJ96303.
AK093372 - Homo sapiens cDNA FLJ36053 fis, clone TESTI2018276, highly similar to Amiloride-sensitive sodium channel subunit delta.
AX748083 - Sequence 1608 from Patent EP1308459.
BC036752 - Homo sapiens, Similar to sodium channel, nonvoltage-gated 1, delta, clone IMAGE:5163898, mRNA, partial cds.
BC125074 - Homo sapiens sodium channel, nonvoltage-gated 1, delta, mRNA (cDNA clone MGC:149710 IMAGE:40117641), complete cds.
BC125075 - Homo sapiens sodium channel, nonvoltage-gated 1, delta, mRNA (cDNA clone MGC:149711 IMAGE:40117643), complete cds.
DQ898176 - Homo sapiens clone 16HBE140L sodium channel nonvoltage-gated 1 delta (SCNN1D) mRNA, complete cds.
DQ898175 - Homo sapiens clone 16HBE140S sodium channel nonvoltage-gated 1 delta (SCNN1D) mRNA, complete cds.
KJ892097 - Synthetic construct Homo sapiens clone ccsbBroadEn_01491 SCNN1D gene, encodes complete protein.
EU489064 - Homo sapiens sodium channel nonvoltage-gated 1 delta (SCNN1D) mRNA, complete cds.
U38254 - Human amiloride sensitive sodium channel delta subunit (dNaCh) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P51172 (Reactome details) participates in the following event(s):

R-HSA-2682349 RAF1:SGK:TSC22D3:WPP ubiquitinates SCNN channels
R-HSA-2672334 SCNN channels transport extracellular Na+ to cytosol
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A9Z1X6, B1PS44, DNACH, ENST00000379116.1, ENST00000379116.2, ENST00000379116.3, ENST00000379116.4, ENST00000379116.5, ENST00000379116.6, ENST00000379116.7, ENST00000379116.8, ENST00000379116.9, NR_037668, P51172, Q08AQ3, Q09HT0, Q5T7L3, Q8NA24, SCNND_HUMAN, uc001adt.1, uc001adt.2, uc001adt.3
UCSC ID: ENST00000379116.10
RefSeq Accession: NM_001130413
Protein: P51172 (aka SCNND_HUMAN or SCAD_HUMAN)
CCDS: CCDS44037.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.