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    SCNN1D sodium channel epithelial 1 subunit delta [ Homo sapiens (human) ]

    Gene ID: 6339, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SCNN1Dprovided by HGNC
    Official Full Name
    sodium channel epithelial 1 subunit deltaprovided by HGNC
    Primary source
    HGNC:HGNC:10601
    See related
    Ensembl:ENSG00000162572 MIM:601328; AllianceGenome:HGNC:10601
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ENaCd; SCNED; dNaCh; ENaCdelta
    Summary
    Predicted to enable ligand-gated sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and plasma membrane. Part of sodium channel complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 4.7), brain (RPKM 1.6) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SCNN1D in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1280436..1292025)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (709443..723551)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1215816..1227405)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene C1q and TNF related 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1182045-1182826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1182827-1183607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14 Neighboring gene ubiquitin conjugating enzyme E2 J2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:1199775-1200974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1207366-1207874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1207875-1208381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1208382-1208889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 49 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1210080-1210718 Neighboring gene long intergenic non-protein coding RNA 1786 Neighboring gene MPRA-validated peak7 silencer Neighboring gene CEB15 minisatellite repeat instability region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1223369-1223916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1223917-1224463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1224736-1225308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1227773-1228318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1232563-1233499 Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 Neighboring gene microRNA 6726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1237151-1237752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1237753-1238352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1238353-1238953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1238954-1239553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1239554-1240154 Neighboring gene small nucleolar RNA, C/D box 167

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. 8-(4-chlorophenylthio)-guanosine-3',5'-cyclic monophosphate-Na stimulates human alveolar fluid clearance by releasing external Na+ self-inhibition of epithelial Na+ channels. Han DY, et al. Am J Respir Cell Mol Biol, 2011 Nov. PMID 21562313, Free PMC Article
    2. Capsazepine is a novel activator of the delta subunit of the human epithelial Na+ channel. Yamamura H, et al. J Biol Chem, 2004 Oct 22. PMID 15308635
    3. Degenerin sites mediate proton activation of deltabetagamma-epithelial sodium channel. Ji HL, et al. J Biol Chem, 2004 Jun 25. PMID 15084585
    4. A novel spliced variant of the epithelial Na+ channel delta-subunit in the human brain. Yamamura H, et al. Biochem Biophys Res Commun, 2006 Oct 13. PMID 16930535
    5. Cloning and functional expression of a new epithelial sodium channel delta subunit isoform differentially expressed in neurons of the human and monkey telencephalon. Giraldez T, et al. J Neurochem, 2007 Aug. PMID 17472699

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rare Variants in Genes Encoding Subunits of the Epithelial Na[+] Channel Are Associated With Blood Pressure and Kidney Function.
      Title: Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.
    2. CRISPR/Cas9 Mediated Knock Down of delta-ENaC Blunted the TNF-Induced Activation of ENaC in A549 Cells.
      Title: CRISPR/Cas9 Mediated Knock Down of δ-ENaC Blunted the TNF-Induced Activation of ENaC in A549 Cells.
    3. Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene.
      Title: Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene.
    4. The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations
      Title: The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
    5. deltabetagamma-ENaC is inhibited by CFTR but activated by cyclic AMP.
      Title: δβγ-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.
    6. delta-ENaC expression is low in NCI-H441, Calu-3, and ATI cells and does not contribute to transepithelial sodium absorption
      Title: Expression and function of the epithelial sodium channel δ-subunit in human respiratory epithelial cells in vitro.
    7. study characterized a new variant, delta2 ENaC, in lung epithelial cells; heterologous delta2betagamma ENaC exhibited a number of divergent features from the delta1betagamma counterpart in biophysics and pharmacology, regulation, and the lifespan of proteins
      Title: Characterization of a novel splice variant of δ ENaC subunit in human lungs.
    8. delta-ENaC undergoes dynamin-independent endocytosis as opposed to alphabetagamma-channels.
      Title: Differential N termini in epithelial Na+ channel δ-subunit isoforms modulate channel trafficking to the membrane.
    9. These results suggest that COMMD1 downregulates deltaENaC activity by reducing deltaENaC surface expression through promoting internalization of surface deltaENaC to an intracellular recycling pool, possibly via enhanced ubiquitination.
      Title: COMMD1 regulates the delta epithelial sodium channel (δENaC) through trafficking and ubiquitination.
    10. Identify the specific domains of epithelial sodium channels that are responsible for the differences in the response to flow of alphabetagamma and deltabetagamma channels.
      Title: Second transmembrane domain modulates epithelial sodium channel gating in response to shear stress.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149710, MGC149711

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ligand-gated sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to acidic pH IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to aldosterone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to vasopressin NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular sodium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of blood pressure NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sensory perception of salty taste NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sensory perception of sour taste NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sodium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sodium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of sodium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of sodium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    amiloride-sensitive sodium channel subunit delta
    Names
    delta-ENaC
    delta-NaCH
    epithelial Na(+) channel subunit delta
    nonvoltage-gated sodium channel 1 subunit delta
    sodium channel epithelial 1 delta subunit
    sodium channel, non-voltage-gated 1, delta subunit
    sodium channel, nonvoltage-gated 1, delta
    sodium channel, voltage-gated, type I, delta polypeptide

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001130413.4 → NP_001123885.2  amiloride-sensitive sodium channel subunit delta

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AK093239, BC040882, BC125074, BU729671, BX424308
      Consensus CDS
      CCDS44037.2
      UniProtKB/Swiss-Prot
      A6NNF7, A9Z1X6, B1PS44, B3KSD7, P51172, Q08AQ3, Q09HT0, Q5T7L3, Q8NA24
      Related
      ENSP00000368411.5, ENST00000379116.10
      Conserved Domains (1) summary
      TIGR00859
      Location:219 → 784
      ENaC; sodium channel transporter

    RNA

    1. NR_037668.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, which results in frame-shift and a premature stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and will not make a functional protein.
      Source sequence(s)
      AA622685, AK093239, BC040882, BC125074, BX424308
      Related
      ENST00000400928.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1280436..1292025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      709443..723551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002978.2: Suppressed sequence

      Description
      NM_002978.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51172.3 GenPept UniProtKB/Swiss-Prot:P51172

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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