Details for: SCNN1A

Gene ID: 6337

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: SCNN1A

Ensembl ID: ENSG00000111319

Description: sodium channel epithelial 1 subunit alpha

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • respiratory hillock cell CL4030023
    CSI 24.67
    rCSI 44%
    PRS 79.26
  • small intestine goblet cell CL1000495
    CSI 21.04
    rCSI 46.07%
    PRS 74.07
  • duct epithelial cell CL0000068
    CSI 17.73
    rCSI 25.94%
    PRS 71.64
  • colon epithelial cell CL0011108
    CSI 17.36
    rCSI 18.19%
    PRS 63.39
  • colon goblet cell CL0009039
    CSI 15.1
    rCSI 35.89%
    PRS 74.59
  • intestine goblet cell CL0019031
    CSI 14.37
    rCSI 12.76%
    PRS 64.46
  • ciliated epithelial cell CL0000067
    CSI 13.15
    rCSI 11.57%
    PRS 54.69
  • stem cell CL0000034
    CSI 12.18
    rCSI 11.75%
    PRS 57.98
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 11.2
    rCSI 28.96%
    PRS 61.72
  • conjunctival epithelial cell CL1000432
    CSI 10.96
    rCSI 16.74%
    PRS 67.56
  • fallopian tube secretory epithelial cell CL4030006
    CSI 10.85
    rCSI 10.45%
    PRS 66.44
  • nasal mucosa goblet cell CL0002480
    CSI 10.81
    rCSI 12.54%
    PRS 73.61
  • ionocyte CL0005006
    CSI 10.74
    rCSI 11.51%
    PRS 66.86
  • lung neuroendocrine cell CL1000223
    CSI 7.77
    rCSI 11.5%
    PRS 72
  • pulmonary ionocyte CL0017000
    CSI 7.53
    rCSI 9.16%
    PRS 74.23
  • epithelial cell CL0000066
    CSI 7.13
    rCSI 10.96%
    PRS 60.53
  • kidney connecting tubule epithelial cell CL1000768
    CSI 6.5
    rCSI 16.48%
    PRS 56.28
  • epithelial cell of proximal tubule CL0002306
    CSI 6.3
    rCSI 15.37%
    PRS 59.76
  • ciliated cell CL0000064
    CSI 5.75
    rCSI 9.31%
    PRS 62.81
  • paneth cell of epithelium of small intestine CL1000343
    CSI 5.48
    rCSI 15.37%
    PRS 76.83
  • mammary gland epithelial cell CL0002327
    CSI 5.36
    rCSI 18.8%
    PRS 78.16
  • enterocyte of epithelium of large intestine CL0002071
    CSI 5.06
    rCSI 26.57%
    PRS 74.92
  • podocyte CL0000653
    CSI 4.96
    rCSI 22.06%
    PRS 66.8
  • bronchial goblet cell CL1000312
    CSI 4.96
    rCSI 19.83%
    PRS 80.25
  • tracheal goblet cell CL1000329
    CSI 4.93
    rCSI 10.76%
    PRS 78.33
  • neuroendocrine cell CL0000165
    CSI 4.65
    rCSI 18%
    PRS 79.99
  • epithelial cell of lower respiratory tract CL0002632
    CSI 4.34
    rCSI 3.36%
    PRS 69.57
  • myoepithelial cell CL0000185
    CSI 4.31
    rCSI 10.9%
    PRS 74.15
  • renal interstitial pericyte CL1001318
    CSI 4.16
    rCSI 11.46%
    PRS 61.95
  • lung ciliated cell CL1000271
    CSI 4.16
    rCSI 4.81%
    PRS 57.38
  • brush cell of tracheobronchial tree CL0002075
    CSI 3.87
    rCSI 11.47%
    PRS 76.58
  • renal principal cell CL0005009
    CSI 3.79
    rCSI 9.84%
    PRS 69.74
  • goblet cell CL0000160
    CSI 3.77
    rCSI 3.56%
    PRS 65.84
  • luminal cell of prostate epithelium CL0002340
    CSI 3.7
    rCSI 19.89%
    PRS 77.39
  • stratified epithelial cell CL0000079
    CSI 3.4
    rCSI 20.96%
    PRS 81.99
  • pulmonary alveolar type 2 cell CL0002063
    CSI 3.38
    rCSI 5.25%
    PRS 73.47
  • basal cell CL0000646
    CSI 3.35
    rCSI 4.48%
    PRS 66.7
  • acinar cell CL0000622
    CSI 3.29
    rCSI 4.82%
    PRS 78.06
  • corneal epithelial cell CL0000575
    CSI 3.28
    rCSI 9.39%
    PRS 77.4
  • respiratory goblet cell CL0002370
    CSI 3.25
    rCSI 35.39%
    PRS 79.6
  • glandular epithelial cell CL0000150
    CSI 3.21
    rCSI 8.46%
    PRS 83.21
  • lung secretory cell CL1000272
    CSI 3.21
    rCSI 7.95%
    PRS 65.48
  • club cell CL0000158
    CSI 3.18
    rCSI 4.65%
    PRS 61.99
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 3.07
    rCSI 8.01%
    PRS 66.71
  • secretory cell CL0000151
    CSI 3.07
    rCSI 3.2%
    PRS 66.78
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 3.02
    rCSI 6.88%
    PRS 62.53
  • renal alpha-intercalated cell CL0005011
    CSI 2.97
    rCSI 3.97%
    PRS 75.25
  • enteroendocrine cell CL0000164
    CSI 2.92
    rCSI 3.99%
    PRS 67.83
  • pancreatic ductal cell CL0002079
    CSI 2.88
    rCSI 5.61%
    PRS 69.8
  • squamous epithelial cell CL0000076
    CSI 2.72
    rCSI 6.45%
    PRS 69.73
  • transit amplifying cell of colon CL0009011
    CSI 2.53
    rCSI 2.97%
    PRS 68.72
  • respiratory basal cell CL0002633
    CSI 2.38
    rCSI 2.47%
    PRS 72.55
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.37
    rCSI 3.36%
    PRS 63.12
  • choroid plexus epithelial cell CL0000706
    CSI 2.21
    rCSI 3.62%
    PRS 55.88
  • renal beta-intercalated cell CL0002201
    CSI 2.08
    rCSI 4.95%
    PRS 67.26
  • epithelial cell of lung CL0000082
    CSI 2.04
    rCSI 1.69%
    PRS 66.35
  • colonocyte CL1000347
    CSI 1.99
    rCSI 2.85%
    PRS 69.44
  • kidney collecting duct intercalated cell CL1001432
    CSI 1.83
    rCSI 13.09%
    PRS 66.36
  • acinar cell of salivary gland CL0002623
    CSI 1.83
    rCSI 42.63%
    PRS 83.5
  • basal cell of epidermis CL0002187
    CSI 1.83
    rCSI 3.24%
    PRS 39.09
  • multi-ciliated epithelial cell CL0005012
    CSI 1.82
    rCSI 1.81%
    PRS 60.28
  • pulmonary alveolar type 1 cell CL0002062
    CSI 1.79
    rCSI 10.3%
    PRS 64.79
  • deuterosomal cell CL4033044
    CSI 1.78
    rCSI 6.01%
    PRS 68.94
  • intrahepatic cholangiocyte CL0002538
    CSI 1.74
    rCSI 4.17%
    PRS 75.29
  • mucus secreting cell CL0000319
    CSI 1.71
    rCSI 2.71%
    PRS 77.18
  • basal-myoepithelial cell of mammary gland CL0002324
    CSI 1.64
    rCSI 3.11%
    PRS 83.18
  • mucous neck cell CL0000651
    CSI 1.63
    rCSI 2.35%
    PRS 76.44
  • respiratory suprabasal cell CL4033048
    CSI 1.62
    rCSI 2.08%
    PRS 71.17
  • BEST4+ enteroycte CL4030026
    CSI 1.46
    rCSI 1.82%
    PRS 68.4
  • foveolar cell of stomach CL0002179
    CSI 1.41
    rCSI 3%
    PRS 76.41
  • intestinal tuft cell CL0019032
    CSI 1.33
    rCSI 2.03%
    PRS 70.94
  • ependymal cell CL0000065
    CSI 1.27
    rCSI 2.57%
    PRS 45.38
  • airway submucosal gland duct basal cell CL4033024
    CSI 1.18
    rCSI 7.56%
    PRS 75.5
  • luminal epithelial cell of mammary gland CL0002326
    CSI 1.03
    rCSI 1.86%
    PRS 80.71
  • paneth cell CL0000510
    CSI 1.01
    rCSI 1.48%
    PRS 81.12
  • kidney loop of Henle thick ascending limb epithelial cell CL1001106
    CSI 0.91
    rCSI 7.9%
    PRS 63.2
  • tracheobronchial serous cell CL0019001
    CSI 0.91
    rCSI 3.92%
    PRS 77.96
  • type L enteroendocrine cell CL0002279
    CSI 0.89
    rCSI 1.67%
    PRS 79.46
  • serous secreting cell of bronchus submucosal gland CL4033005
    CSI 0.87
    rCSI 4.97%
    PRS 83.59
  • parietal epithelial cell CL1000452
    CSI 0.77
    rCSI 2.05%
    PRS 57.59
  • tracheobronchial goblet cell CL0019003
    CSI 0.72
    rCSI 11.53%
    PRS 85.13
  • transit amplifying cell CL0009010
    CSI 0.66
    rCSI 1.01%
    PRS 78.91
  • intestinal crypt stem cell of colon CL0009043
    CSI 0.59
    rCSI 4.47%
    PRS 80.87
  • lung goblet cell CL1000143
    CSI 0.54
    rCSI 6.08%
    PRS 84.13
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 0.53
    rCSI 5.58%
    PRS 64.54
  • basal cell of epithelium of trachea CL1000348
    CSI 0.49
    rCSI 3.43%
    PRS 78.55
  • paneth cell of colon CL0009009
    CSI 0.29
    rCSI 2.82%
    PRS 81.28

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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  • Node Color (Target Cell CSI, relative to current network):
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    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [SCNN1A](/details-gene/6337) encodes the alpha subunit of the amiloride-sensitive epithelial sodium channel (ENaC), a crucial component of ion transport machinery. This channel is primarily responsible for sodium ion import across the apical membrane of epithelial cells, playing a central role in maintaining electrolyte balance, fluid homeostasis, and blood pressure regulation. Its expression is particularly prominent in various secretory and absorptive epithelial tissues. **Overall**, [SCNN1A](/details-gene/6337) is a defining marker for specialized epithelial cells in the respiratory system, such as the [respiratory hillock cell](/details-cell/CL4030023), and the gastrointestinal tract, including the [small intestine goblet cell](/details-cell/CL1000495), highlighting its fundamental role in mucosal surface function. Mutations in this gene are associated with disorders of sodium balance and blood pressure, including pseudohypoaldosteronism type 1 ([264350](https://omim.org/entry/264350)) and Liddle syndrome ([600228](https://omim.org/entry/600228)). ## Cellular Roles and Expression Landscape The expression profile of [SCNN1A](/details-gene/6337) underscores its specialized function in ion-transporting epithelial tissues across multiple organ systems. The highest significance is observed in cells responsible for regulating fluid and electrolyte transport at mucosal interfaces. * **Respiratory Epithelium:** [SCNN1A](/details-gene/6337) shows exceptionally high significance in the [respiratory hillock cell](/details-cell/CL4030023) (CSI: 24.67), a progenitor-like cell in the airway, as well as in mature cell types like the [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 13.15) and [nasal mucosa goblet cell](/details-cell/CL0002480) (CSI: 10.81). Its presence in specialized [ionocyte](/details-cell/CL0005006)s and [pulmonary ionocyte](/details-cell/CL0017000)s further solidifies its role as a key regulator of airway surface liquid volume, a process critical for mucociliary clearance [Link](https://doi.org/10.1073/pnas.91.1.247). * **Gastrointestinal and Glandular Epithelium:** The gene is a major marker for intestinal secretory cells, including the [small intestine goblet cell](/details-cell/CL1000495) (CSI: 21.04) and [colon goblet cell](/details-cell/CL0009039) (CSI: 15.10). High expression is also noted in the [duct epithelial cell](/details-cell/CL0000068) (CSI: 17.73) and [colon epithelial cell](/details-cell/CL0011108) (CSI: 17.36), consistent with a function in sodium absorption and fluid secretion in the gut and exocrine glands. * **Renal and Reproductive Tracts:** In the kidney, [SCNN1A](/details-gene/6337) is significantly expressed in the [kidney loop of Henle thin ascending limb epithelial cell](/details-cell/CL1001107) (CSI: 11.20), where it contributes to sodium reabsorption, a process vital for blood pressure control and systemic electrolyte homeostasis. Its expression in [fallopian tube secretory epithelial cell](/details-cell/CL4030006) (CSI: 10.85) suggests a potential role in regulating the luminal environment of the female reproductive tract. The consistent and high significance of [SCNN1A](/details-gene/6337) across these diverse epithelial cell types establishes it as a fundamental component of transepithelial sodium transport. ## Pathways and Molecular Function The molecular functions attributed to [SCNN1A](/details-gene/6337) align perfectly with its cellular expression profile as a key component of the ENaC complex. * **Core Molecular Function:** Annotation analysis confirms its primary role in [sodium ion import across plasma membrane](/details-ontology/GO:0098719) and [sodium ion transmembrane transport](/details-ontology/GO:0035725) as part of a [ligand-gated sodium channel activity](/details-ontology/GO:0015280). It localizes to the [apical plasma membrane](/details-ontology/GO:0016324) where it forms the pore of the [sodium channel complex](/details-ontology/GO:0034706). These functions are encompassed by Reactome pathways such as [Ion channel transport](/details-pathway/R-HSA-983712) and [Transport of small molecules](/details-pathway/R-HSA-382551). * **Physiological Regulation and Response:** The gene is integral to several homeostatic processes, including the [regulation of blood pressure](/details-ontology/GO:0008217) and [multicellular organismal-level water homeostasis](/details-ontology/GO:0050891). This is mediated through its responsiveness to hormonal signals, as evidenced by its involvement in the [cellular response to aldosterone](/details-ontology/GO:1904045) and [cellular response to vasopressin](/details-ontology/GO:1904117). This regulation is critical for its function in the kidney collecting ducts [Link](https://doi.org/10.1210/mend.15.4.0620). * **Sensory Perception:** [SCNN1A](/details-gene/6337) also plays a specialized role in chemosensation, participating in the [sensory perception of salty taste](/details-ontology/GO:0050914) and [sour taste](/details-ontology/GO:0050915). This is further supported by its annotation in the Reactome pathway [Sensory perception of salty taste](/details-pathway/R-HSA-9730628). ## Research Directions Given the well-established role of [SCNN1A](/details-gene/6337) in ion transport, future research should focus on its cell-type-specific regulation in disease contexts, particularly where fluid balance is pathologically altered. ### Proposed Hypotheses 1. **Role in Cystic Fibrosis (CF) Pathophysiology:** The documented upregulation of ENaC in CF airway epithelium ([Link](https://doi.org/10.1016/j.jcf.2007.07.012)) suggests that increased [SCNN1A](/details-gene/6337) activity in [respiratory hillock cell](/details-cell/CL4030023)s and other airway epithelial cells is a primary driver of airway surface liquid dehydration and mucus stasis. We hypothesize that cell-type-specific inhibition of [SCNN1A](/details-gene/6337) could reverse this dehydration phenotype without disrupting essential ion transport in other tissues. 2. **Regulation of Goblet Cell Mucin Release:** The high significance of [SCNN1A](/details-gene/6337) in both respiratory and intestinal goblet cells (e.g., [small intestine goblet cell](/details-cell/CL1000495)) suggests its function extends beyond simple ion absorption. We hypothesize that [SCNN1A](/details-gene/6337)-mediated sodium influx creates localized osmotic gradients across the apical membrane that are necessary for the proper hydration and exocytosis of mucin granules, and that its dysregulation could contribute to diseases characterized by altered mucus properties, such as asthma or inflammatory bowel disease. ### Key Experimental Approach To test the hypothesis regarding [SCNN1A](/details-gene/6337)'s role in CF, an effective approach would be to use primary human bronchial epithelial cells from CF patients (homozygous for the F508del mutation) cultured at an air-liquid interface to form differentiated, mucociliary epithelia. These cultures could be treated with antisense oligonucleotides (ASOs) designed to specifically knock down [SCNN1A](/details-gene/6337) expression. The direct functional consequences would be measured by quantifying airway surface liquid height via confocal microscopy, assessing ciliary beat frequency with high-speed video imaging, and measuring mucus transport rates. A successful outcome, demonstrating increased fluid height and improved clearance upon [SCNN1A](/details-gene/6337) knockdown, would provide strong preclinical evidence for this therapeutic strategy. ### Therapeutic Potential [SCNN1A](/details-gene/6337) is a validated and highly druggable therapeutic target. As a cell surface ion channel, it is accessible to both small molecule inhibitors and potentially biologic-based therapies. * **Strategy:** The therapeutic strategy is **inhibition**. Its overactivity is implicated in pathology, such as sodium retention in Liddle syndrome and airway dehydration in cystic fibrosis. Amiloride and its analogs are known inhibitors that function as diuretics in the context of hypertension. * **Applications:** Beyond its established use in hypertension, [SCNN1A](/details-gene/6337) is a prime target for respiratory diseases. Targeted delivery via inhalation could maximize therapeutic benefit in the lungs while minimizing systemic side effects like hyperkalemia that result from inhibiting its function in the kidney. Developing more potent and durable inhaled ENaC inhibitors remains a key goal for treating cystic fibrosis and potentially other muco-obstructive lung diseases.

Genular Protein ID: 3522339951

Symbol: SCNNA_HUMAN

Name: Amiloride-sensitive sodium channel subunit alpha

UniProtKB Accession Codes:

P37088 A5X2U9 B4E2Q5 C5HTZ0 O43271 Q6GSQ6 Q9UM64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 ELM 1 EMBL 20 EMDB 2 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 24 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8278374

Title: The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning.

PubMed ID: 8278374

DOI: 10.1073/pnas.91.1.247

PubMed ID: 8023962

Title: Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel.

PubMed ID: 8023962

DOI: 10.1152/ajplung.1994.266.6.l728

PubMed ID: 9654208

Title: Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel.

PubMed ID: 9654208

DOI: 10.1007/s004390050743

PubMed ID: 10447117

Title: Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene.

PubMed ID: 10447117

DOI: 10.1203/00006450-199908000-00014

PubMed ID: 17766193

Title: Upregulated expression of ENaC in human CF nasal epithelium.

PubMed ID: 17766193

DOI: 10.1016/j.jcf.2007.07.012

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9612219

Title: 5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins.

PubMed ID: 9612219

DOI: 10.1152/ajpcell.1998.274.5.c1312

PubMed ID: 11266509

Title: The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene.

PubMed ID: 11266509

DOI: 10.1210/mend.15.4.0620

PubMed ID: 1939532

Title: Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.

PubMed ID: 1939532

DOI: 10.1210/jcem-73-5-936

PubMed ID: 9575806

Title: Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel.

PubMed ID: 9575806

DOI: 10.1152/ajpcell.1998.274.4.c1081

PubMed ID: 9169421

Title: Identification of novel human WW domain-containing proteins by cloning of ligand targets.

PubMed ID: 9169421

DOI: 10.1074/jbc.272.23.14611

PubMed ID: 11244092

Title: The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel.

PubMed ID: 11244092

DOI: 10.1074/jbc.c000906200

PubMed ID: 12167593

Title: Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel.

PubMed ID: 12167593

DOI: 10.1152/ajprenal.00080.2002

PubMed ID: 18650438

Title: Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation.

PubMed ID: 18650438

DOI: 10.1074/jbc.m803931200

PubMed ID: 18634878

Title: Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

PubMed ID: 18634878

DOI: 10.1016/j.jsbmb.2008.06.013

PubMed ID: 22207244

Title: Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.

PubMed ID: 22207244

DOI: 10.1007/s00418-011-0904-1

PubMed ID: 22493497

Title: Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).

PubMed ID: 22493497

DOI: 10.1074/jbc.m112.363382

PubMed ID: 24124190

Title: Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures.

PubMed ID: 24124190

DOI: 10.1152/ajplung.00103.2013

PubMed ID: 23665454

Title: Structure and dynamics of human Nedd4-1 WW3 in complex with the alphaENaC PY motif.

PubMed ID: 23665454

DOI: 10.1016/j.bbapap.2013.04.031

PubMed ID: 23547933

Title: ENaC modulators and renal disease.

PubMed ID: 23547933

DOI: 10.2174/1874467211306010005

PubMed ID: 26772908

Title: Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

PubMed ID: 26772908

DOI: 10.1016/j.gene.2015.12.061

PubMed ID: 28130590

Title: Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.

PubMed ID: 28130590

DOI: 10.1007/s00418-016-1535-3

PubMed ID: 10523338

Title: Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension.

PubMed ID: 10523338

DOI: 10.1161/01.hyp.34.4.631

PubMed ID: 11696533

Title: Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel.

PubMed ID: 11696533

DOI: 10.1074/jbc.c100623200

PubMed ID: 28710092

Title: A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome.

PubMed ID: 28710092

DOI: 10.1681/asn.2016111163

PubMed ID: 10404817

Title: Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?

PubMed ID: 10404817

DOI: 10.1210/jcem.84.7.5857

PubMed ID: 10586178

Title: Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.

PubMed ID: 10586178

DOI: 10.1016/s0022-3476(99)70094-6

PubMed ID: 12107247

Title: Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.

PubMed ID: 12107247

DOI: 10.1210/jcem.87.7.8674

PubMed ID: 15734793

Title: Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study.

PubMed ID: 15734793

DOI: 10.1373/clinchem.2004.046276

PubMed ID: 15853823

Title: Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

PubMed ID: 15853823

DOI: 10.1111/j.1365-2265.2005.02255.x

PubMed ID: 16207733

Title: Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

PubMed ID: 16207733

DOI: 10.1093/hmg/ddi374

PubMed ID: 19462466

Title: Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

PubMed ID: 19462466

DOI: 10.1002/humu.21011

Sequence Information:

  • Length: 669
  • Mass: 75704
  • Checksum: 2CCF342E7DF32E72
  • Sequence:
    • MEGNKLEEQD SSPPQSTPGL MKGNKREEQG LGPEPAAPQQ PTAEEEALIE FHRSYRELFE 
FFCNNTTIHG AIRLVCSQHN RMKTAFWAVL WLCTFGMMYW QFGLLFGEYF SYPVSLNINL 
NSDKLVFPAV TICTLNPYRY PEIKEELEEL DRITEQTLFD LYKYSSFTTL VAGSRSRRDL 
RGTLPHPLQR LRVPPPPHGA RRARSVASSL RDNNPQVDWK DWKIGFQLCN QNKSDCFYQT 
YSSGVDAVRE WYRFHYINIL SRLPETLPSL EEDTLGNFIF ACRFNQVSCN QANYSHFHHP 
MYGNCYTFND KNNSNLWMSS MPGINNGLSL MLRAEQNDFI PLLSTVTGAR VMVHGQDEPA 
FMDDGGFNLR PGVETSISMR KETLDRLGGD YGDCTKNGSD VPVENLYPSK YTQQVCIHSC 
FQESMIKECG CAYIFYPRPQ NVEYCDYRKH SSWGYCYYKL QVDFSSDHLG CFTKCRKPCS 
VTSYQLSAGY SRWPSVTSQE WVFQMLSRQN NYTVNNKRNG VAKVNIFFKE LNYKTNSESP 
SVTMVTLLSN LGSQWSLWFG SSVLSVVEMA ELVFDLLVIM FLMLLRRFRS RYWSPGRGGR 
GAQEVASTLA SSPPSHFCPH PMSLSLSQPG PAPSPALTAP PPAYATLGPR PSPGGSAGAS 
SSTCPLGGP