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

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: Enables 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 membrane. Part of sodium channel complex. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Dec 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables sodium channel activity	IDA Inferred from Direct Assay 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

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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)

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

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1280436..1292025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

709443..723551

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.