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Protein

Amiloride-sensitive sodium channel subunit gamma

Gene

SCNN1G

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.1 Publication2 Publications

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by WNK1, WNK2, WNK3 and WNK4.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ion channel activity Source: CACAO
  • ligand-gated sodium channel activity Source: ProtInc
  • sodium channel activity Source: ProtInc
  • WW domain binding Source: BHF-UCL

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Sodium channel
Biological processIon transport, Sensory transduction, Sodium transport, Taste, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351 Stimuli-sensing channels

SIGNOR Signaling Network Open Resource

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SIGNORi
P51170

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.6.1.1 the epithelial na(+) channel (enac) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Amiloride-sensitive sodium channel subunit gamma
Alternative name(s):
Epithelial Na(+) channel subunit gamma
Short name:
ENaCG
Short name:
Gamma-ENaC
Gamma-NaCH
Nonvoltage-gated sodium channel 1 subunit gamma
SCNEG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCNN1G
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000166828.2

Human Gene Nomenclature Database

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HGNCi
HGNC:10602 SCNN1G

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600761 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51170

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 55CytoplasmicBy similarityAdd BLAST55
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei56 – 76Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini77 – 541ExtracellularBy similarityAdd BLAST465
Transmembranei542 – 562Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini563 – 649CytoplasmicBy similarityAdd BLAST87

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Liddle syndrome 2 (LIDLS2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
See also OMIM:618114
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081180573 – 649Missing in LIDLS2; increased sodium channel activity. 1 PublicationAdd BLAST77
Bronchiectasis with or without elevated sweat chloride 3 (BESC3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.
See also OMIM:613071

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6340

MalaCards human disease database

More...
MalaCardsi
SCNN1G
MIMi613071 phenotype
618114 phenotype

Open Targets

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OpenTargetsi
ENSG00000166828

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
171876 Generalized pseudohypoaldosteronism type 1
60033 Idiopathic bronchiectasis
526 Liddle syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA307

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2107836

Drug and drug target database

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DrugBanki
DB00594 Amiloride
DB00384 Triamterene

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
741

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SCNN1G

Domain mapping of disease mutations (DMDM)

More...
DMDMi
108885072

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001812761 – 649Amiloride-sensitive sodium channel subunit gammaAdd BLAST649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi209N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.By similarity
Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.By similarity
ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51170

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51170

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P51170

PeptideAtlas

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PeptideAtlasi
P51170

PRoteomics IDEntifications database

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PRIDEi
P51170

ProteomicsDB human proteome resource

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ProteomicsDBi
56297

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51170

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P51170

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in kidney (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166828 Expressed in 94 organ(s), highest expression level in adult mammalian kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51170 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51170 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA071194

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (PubMed:7762608). Interacts with NEDD4; via the WW domains (PubMed:11244092, PubMed:12167593). Interacts with NEDD4L; via the WW domains (PubMed:11244092). Interacts with WWP1; via the WW domains (PubMed:9169421). Interacts with WWP2; via the WW domains (PubMed:9169421, PubMed:12167593). Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
SCNN1AP370883EBI-2547354,EBI-7845444

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112244, 14 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2188 Amiloride-sensitive sodium channel complex, alpha-beta-gamma
CPX-312 Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma
CPX-313 Amiloride-sensitive sodium channel complex, delta-beta-gamma

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P51170

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P51170

Protein interaction database and analysis system

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IntActi
P51170, 3 interactors

Molecular INTeraction database

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MINTi
P51170

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000300061

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P51170

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4294 Eukaryota
ENOG410ZNFK LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160352

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058435

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51170

KEGG Orthology (KO)

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KOi
K04827

Identification of Orthologs from Complete Genome Data

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OMAi
AQWPSVV

Database of Orthologous Groups

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OrthoDBi
1599898at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P51170

TreeFam database of animal gene trees

More...
TreeFami
TF330663

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001873 ENaC
IPR004724 ENaC_chordates
IPR020903 ENaC_CS

The PANTHER Classification System

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PANTHERi
PTHR11690 PTHR11690, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00858 ASC, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01078 AMINACHANNEL

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00859 ENaC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01206 ASC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P51170-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPGEKIKAK IKKNLPVTGP QAPTIKELMR WYCLNTNTHG CRRIVVSRGR
60 70 80 90 100
LRRLLWIGFT LTAVALILWQ CALLVFSFYT VSVSIKVHFR KLDFPAVTIC
110 120 130 140 150
NINPYKYSTV RHLLADLEQE TREALKSLYG FPESRKRREA ESWNSVSEGK
160 170 180 190 200
QPRFSHRIPL LIFDQDEKGK ARDFFTGRKR KVGGSIIHKA SNVMHIESKQ
210 220 230 240 250
VVGFQLCSND TSDCATYTFS SGINAIQEWY KLHYMNIMAQ VPLEKKINMS
260 270 280 290 300
YSAEELLVTC FFDGVSCDAR NFTLFHHPMH GNCYTFNNRE NETILSTSMG
310 320 330 340 350
GSEYGLQVIL YINEEEYNPF LVSSTGAKVI IHRQDEYPFV EDVGTEIETA
360 370 380 390 400
MVTSIGMHLT ESFKLSEPYS QCTEDGSDVP IRNIYNAAYS LQICLHSCFQ
410 420 430 440 450
TKMVEKCGCA QYSQPLPPAA NYCNYQQHPN WMYCYYQLHR AFVQEELGCQ
460 470 480 490 500
SVCKEACSFK EWTLTTSLAQ WPSVVSEKWL LPVLTWDQGR QVNKKLNKTD
510 520 530 540 550
LAKLLIFYKD LNQRSIMESP ANSIEMLLSN FGGQLGLWMS CSVVCVIEII
560 570 580 590 600
EVFFIDFFSI IARRQWQKAK EWWAWKQAPP CPEAPRSPQG QDNPALDIDD
610 620 630 640
DLPTFNSALH LPPALGTQVP GTPPPKYNTL RLERAFSNQL TDTQMLDEL
Length:649
Mass (Da):74,270
Last modified:May 30, 2006 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF67ED45F03A9BF3F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti339F → S in CAA60633 (PubMed:7490094).Curated1
Sequence conflicti350A → T in CAA60633 (PubMed:7490094).Curated1
Sequence conflicti369Y → S in CAA60633 (PubMed:7490094).Curated1
Sequence conflicti375D → G in CAA60633 (PubMed:7490094).Curated1
Sequence conflicti458S → R in CAA60633 (PubMed:7490094).Curated1
Sequence conflicti461 – 463EWT → DGH in AAC50758 (PubMed:8824247).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01489349G → C1 PublicationCorresponds to variant dbSNP:rs5733Ensembl.1
Natural variantiVAR_03648358G → R in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1183385193Ensembl.1
Natural variantiVAR_015842178R → W2 Publications1
Natural variantiVAR_014894183G → S in a patient with bronchiectasis. 2 PublicationsCorresponds to variant dbSNP:rs5736EnsemblClinVar.1
Natural variantiVAR_034485197E → K in a patient with bronchiectasis. 1 PublicationCorresponds to variant dbSNP:rs5738EnsemblClinVar.1
Natural variantiVAR_015843502A → P4 Publications1
Natural variantiVAR_081180573 – 649Missing in LIDLS2; increased sodium channel activity. 1 PublicationAdd BLAST77
Natural variantiVAR_015844614A → S2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X87160 mRNA Translation: CAA60633.1
L36592 mRNA Translation: AAA75460.1
AF356502
, AF356493, AF356494, AF356495, AF356496, AF356497, AF356498, AF356499, AF356500, AF356501 Genomic DNA Translation: AAK50910.1
BC059391 mRNA Translation: AAH59391.1
BC069652 mRNA Translation: AAH69652.1
U48936 mRNA Translation: AAC50737.1
U53836 Genomic DNA Translation: AAC50744.1
U53837 Genomic DNA Translation: AAC50745.1
U53841 Genomic DNA Translation: AAC50749.1
U53844 Genomic DNA Translation: AAC50752.1
U53845 Genomic DNA Translation: AAC50753.1
U53846 Genomic DNA Translation: AAC50754.1
U53847 Genomic DNA Translation: AAC50755.1
U53850 Genomic DNA Translation: AAC50758.1
U53852 Genomic DNA Translation: AAC50760.1
U35630 Genomic DNA Translation: AAC50217.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS10608.1

Protein sequence database of the Protein Information Resource

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PIRi
I38204
I64847

NCBI Reference Sequences

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RefSeqi
NP_001030.2, NM_001039.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.371727

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000300061; ENSP00000300061; ENSG00000166828

Database of genes from NCBI RefSeq genomes

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GeneIDi
6340

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6340

UCSC genome browser

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UCSCi
uc002dlm.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X87160 mRNA Translation: CAA60633.1
L36592 mRNA Translation: AAA75460.1
AF356502
, AF356493, AF356494, AF356495, AF356496, AF356497, AF356498, AF356499, AF356500, AF356501 Genomic DNA Translation: AAK50910.1
BC059391 mRNA Translation: AAH59391.1
BC069652 mRNA Translation: AAH69652.1
U48936 mRNA Translation: AAC50737.1
U53836 Genomic DNA Translation: AAC50744.1
U53837 Genomic DNA Translation: AAC50745.1
U53841 Genomic DNA Translation: AAC50749.1
U53844 Genomic DNA Translation: AAC50752.1
U53845 Genomic DNA Translation: AAC50753.1
U53846 Genomic DNA Translation: AAC50754.1
U53847 Genomic DNA Translation: AAC50755.1
U53850 Genomic DNA Translation: AAC50758.1
U53852 Genomic DNA Translation: AAC50760.1
U35630 Genomic DNA Translation: AAC50217.1
CCDSiCCDS10608.1
PIRiI38204
I64847
RefSeqiNP_001030.2, NM_001039.3
UniGeneiHs.371727

3D structure databases

ProteinModelPortaliP51170
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112244, 14 interactors
ComplexPortaliCPX-2188 Amiloride-sensitive sodium channel complex, alpha-beta-gamma
CPX-312 Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma
CPX-313 Amiloride-sensitive sodium channel complex, delta-beta-gamma
CORUMiP51170
ELMiP51170
IntActiP51170, 3 interactors
MINTiP51170
STRINGi9606.ENSP00000300061

Chemistry databases

ChEMBLiCHEMBL2107836
DrugBankiDB00594 Amiloride
DB00384 Triamterene
GuidetoPHARMACOLOGYi741

Protein family/group databases

TCDBi1.A.6.1.1 the epithelial na(+) channel (enac) family

PTM databases

iPTMnetiP51170
PhosphoSitePlusiP51170

Polymorphism and mutation databases

BioMutaiSCNN1G
DMDMi108885072

Proteomic databases

EPDiP51170
jPOSTiP51170
PaxDbiP51170
PeptideAtlasiP51170
PRIDEiP51170
ProteomicsDBi56297

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300061; ENSP00000300061; ENSG00000166828
GeneIDi6340
KEGGihsa:6340
UCSCiuc002dlm.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6340
DisGeNETi6340
EuPathDBiHostDB:ENSG00000166828.2

GeneCards: human genes, protein and diseases

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GeneCardsi
SCNN1G
HGNCiHGNC:10602 SCNN1G
HPAiHPA071194
MalaCardsiSCNN1G
MIMi600761 gene
613071 phenotype
618114 phenotype
neXtProtiNX_P51170
OpenTargetsiENSG00000166828
Orphaneti171876 Generalized pseudohypoaldosteronism type 1
60033 Idiopathic bronchiectasis
526 Liddle syndrome
PharmGKBiPA307

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4294 Eukaryota
ENOG410ZNFK LUCA
GeneTreeiENSGT00940000160352
HOVERGENiHBG058435
InParanoidiP51170
KOiK04827
OMAiAQWPSVV
OrthoDBi1599898at2759
PhylomeDBiP51170
TreeFamiTF330663

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels
SIGNORiP51170

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SCNN1G

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6340

Protein Ontology

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PROi
PR:P51170

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166828 Expressed in 94 organ(s), highest expression level in adult mammalian kidney
ExpressionAtlasiP51170 baseline and differential
GenevisibleiP51170 HS

Family and domain databases

InterProiView protein in InterPro
IPR001873 ENaC
IPR004724 ENaC_chordates
IPR020903 ENaC_CS
PANTHERiPTHR11690 PTHR11690, 1 hit
PfamiView protein in Pfam
PF00858 ASC, 1 hit
PRINTSiPR01078 AMINACHANNEL
TIGRFAMsiTIGR00859 ENaC, 1 hit
PROSITEiView protein in PROSITE
PS01206 ASC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCNNG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51170
Secondary accession number(s): P78437
, Q6PCC2, Q93023, Q93024, Q93025, Q93026, Q93027, Q96TD2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2006
Last modified: January 16, 2019
This is version 185 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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