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SCNN1D sodium channel, non-voltage-gated 1, delta subunit [ Homo sapiens (human) ]

Gene ID: 6339, updated on 20-Aug-2014
Official Symbol
SCNN1Dprovided by HGNC
Official Full Name
sodium channel, non-voltage-gated 1, delta subunitprovided by HGNC
Primary source
HGNC:10601
Locus tag
RP5-902P8.9
See related
Ensembl:ENSG00000162572; HPRD:03209; MIM:601328; Vega:OTTHUMG00000002081
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
See SCNN1D in Epigenomics, MapViewer
Location:
1p36.3-p36.2
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (1280436..1292029)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1215816..1227409)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2, J2 Neighboring gene uncharacterized LOC101928895 Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 Neighboring gene microRNA 6726 Neighboring gene pseudouridylate synthase-like 1 Neighboring gene cleavage and polyadenylation specific factor 3-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC149710, MGC149711

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligand-gated sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
sodium ion transport TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
amiloride-sensitive sodium channel subunit delta
Names
amiloride-sensitive sodium channel subunit delta
delta-ENaC
delta-NaCH
epithelial Na(+) channel subunit delta
sodium channel, nonvoltage-gated 1, delta
nonvoltage-gated sodium channel 1 subunit delta
sodium channel, voltage-gated, type I, delta polypeptide

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_001130413.3NP_001123885.2  amiloride-sensitive sodium channel subunit delta

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AA622685, AK093239, BC040882, BC125074, BU729671, BX424308
    Consensus CDS
    CCDS44037.2
    UniProtKB/TrEMBL
    A6NNF7
    UniProtKB/Swiss-Prot
    P51172
    Related
    ENSP00000368411, OTTHUMP00000242838, ENST00000379116, OTTHUMT00000407296
    Conserved Domains (1) summary
    TIGR00859
    Location:219784
    Blast Score: 1964
    ENaC; sodium channel transporter

RNA

  1. NR_037668.2 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    1280436..1292029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    487469..498615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    1202865..1213108
    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.