U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6339, updated on 13-May-2022

Summary

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. Predicted to be involved in sodium ion transmembrane transport. Located in actin cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 4.7), brain (RPKM 1.6) and 23 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SCNN1D in Genome Data Viewer
Location:
1p36.33
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1280436..1292025)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (709443..723551)
105.20220307 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 ubiquitin conjugating enzyme E2 J2 Neighboring gene CEB15 minisatellite repeat instability region Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 Neighboring gene microRNA 6726 Neighboring gene small nucleolar RNA, C/D box 167

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of sodium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

NEW Try the new Transcript table

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_001130413.4NP_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
    P51172
    UniProtKB/TrEMBL
    A6NNF7
    Related
    ENSP00000368411.5, ENST00000379116.10
    Conserved Domains (1) summary
    TIGR00859
    Location:219784
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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.