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Entry version 197 (11 Dec 2019)
Sequence version 2 (01 Dec 2000)
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Protein

Amiloride-sensitive sodium channel subunit beta

Gene

SCNN1B

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 Publication1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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

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
P51168

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 beta
Alternative name(s):
Beta-NaCH
Epithelial Na(+) channel subunit beta
Short name:
Beta-ENaC
Short name:
ENaCB
Nonvoltage-gated sodium channel 1 subunit beta
SCNEB
<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:SCNN1B
<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:ENSG00000168447.10

Human Gene Nomenclature Database

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HGNCi
HGNC:10600 SCNN1B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600760 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51168

<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 & Seán O’Donoghue; 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 – 50CytoplasmicBy similarityAdd BLAST50
<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>Transmembranei51 – 71Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini72 – 532ExtracellularBy similarityAdd BLAST461
Transmembranei533 – 553Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini554 – 640CytoplasmicBy similarityAdd BLAST87

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, 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

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878).1 Publication
Disease descriptionA rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
Related information in OMIM
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_00712737G → S in PHA1B. 1 PublicationCorresponds to variant dbSNP:rs137852706EnsemblClinVar.1
Liddle syndrome 1 (LIDLS1)6 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007128616P → L in LIDLS1. 3 PublicationsCorresponds to variant dbSNP:rs387906402EnsemblClinVar.1
Natural variantiVAR_007129616P → S in LIDLS1. 1 Publication1
Natural variantiVAR_026520617P → S in LIDLS1. 1 PublicationCorresponds to variant dbSNP:rs137852708EnsemblClinVar.1
Natural variantiVAR_026521618P → R in LIDLS1. 1 PublicationCorresponds to variant dbSNP:rs137852705Ensembl.1
Natural variantiVAR_026522620Y → H in LIDLS1; constitutive channel activation. 1 PublicationCorresponds to variant dbSNP:rs137852707EnsemblClinVar.1
Bronchiectasis with or without elevated sweat chloride 1 (BESC1)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06240182S → C in BESC1. 2 PublicationsCorresponds to variant dbSNP:rs35731153EnsemblClinVar.1
Natural variantiVAR_062402267P → L in BESC1; decreased channel activity. 1 PublicationCorresponds to variant dbSNP:rs137852709EnsemblClinVar.1
Natural variantiVAR_062403288N → S in BESC1. 1 PublicationCorresponds to variant dbSNP:rs137852712EnsemblClinVar.1
Natural variantiVAR_062404294G → S in BESC1; increased channel activity. 1 PublicationCorresponds to variant dbSNP:rs72654338EnsemblClinVar.1
Natural variantiVAR_062405348V → M in BESC1. 1 PublicationCorresponds to variant dbSNP:rs61759921Ensembl.1
Natural variantiVAR_062406369P → T in BESC1. 1 PublicationCorresponds to variant dbSNP:rs137852711EnsemblClinVar.1
Natural variantiVAR_062407539E → K in BESC1; decreased channel activity. 1 PublicationCorresponds to variant dbSNP:rs137852710EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6338

MalaCards human disease database

More...
MalaCardsi
SCNN1B
MIMi177200 phenotype
211400 phenotype
264350 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168447

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

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PharmGKBi
PA306

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P51168 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2107836

Drug and drug target database

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DrugBanki
DB00594 Amiloride
DB14509 Lithium carbonate
DB00384 Triamterene

DrugCentral

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DrugCentrali
P51168

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
739

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SCNN1B

Domain mapping of disease mutations (DMDM)

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DMDMi
8928561

<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_00001812681 – 640Amiloride-sensitive sodium channel subunit betaAdd BLAST640

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>Glycosylationi260N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei633PhosphoserineBy similarity1
Modified residuei635PhosphoserineBy similarity1

<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
N-glycosylated. N-glycosylation is required for interaction with BPIFA1.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51168

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P51168

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

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PaxDbi
P51168

PeptideAtlas

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PeptideAtlasi
P51168

PRoteomics IDEntifications database

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PRIDEi
P51168

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56295 [P51168-1]
56296 [P51168-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51168

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

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PhosphoSitePlusi
P51168

<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

Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168447 Expressed in 130 organ(s), highest expression level in ectocervix

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51168 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51168 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA015612

<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:7499195, PubMed:16423824).

Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:12167593).

Interacts with NEDD4L (via WW domains) (PubMed:11244092).

Interacts with WWP1 (via WW domains) (PubMed:9169421).

Interacts with WWP2 (via WW domains) (PubMed:9169421, PubMed:12167593).

Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).

Interacts (N-glycosylated) with BPIFA1; the interaction is direct and inhibits the proteolytic processing of SCNN1A and SCNN1G and the activation of ENaC (PubMed:24124190, PubMed:24043776).

8 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
P469344EBI-2547187,EBI-726944

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112242, 19 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
P51168

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P51168

Protein interaction database and analysis system

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IntActi
P51168, 4 interactors

Molecular INTeraction database

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MINTi
P51168

STRING: functional protein association networks

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STRINGi
9606.ENSP00000345751

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
P51168 protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P51168

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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

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eggNOGi
KOG4294 Eukaryota
ENOG410ZNFK LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160893

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000236286

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51168

KEGG Orthology (KO)

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KOi
K04825

Identification of Orthologs from Complete Genome Data

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OMAi
SLVFWQW

Database of Orthologous Groups

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OrthoDBi
686369at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P51168

TreeFam database of animal gene trees

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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

More...
PANTHERi
PTHR11690 PTHR11690, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00858 ASC, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01078 AMINACHANNEL

TIGRFAMs; a protein family database

More...
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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51168-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA
60 70 80 90 100
MWFLLTLLFA ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA
110 120 130 140 150
SPFKYSKIKH LLKDLDELME AVLERILAPE LSHANATRNL NFSIWNHTPL
160 170 180 190 200
VLIDERNPHH PMVLDLFGDN HNGLTSSSAS EKICNAHGCK MAMRLCSLNR
210 220 230 240 250
TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY PGEQMILACL
260 270 280 290 300
FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD
310 320 330 340 350
IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK
360 370 380 390 400
LQRMGEPYSP CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN
410 420 430 440 450
CGHYLYPLPR GEKYCNNRDF PDWAHCYSDL QMSVAQRETC IGMCKESCND
460 470 480 490 500
TQYKMTISMA DWPSEASEDW IFHVLSQERD QSTNITLSRK GIVKLNIYFQ
510 520 530 540 550
EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF GEIIIDFVWI
560 570 580 590 600
TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN
610 620 630 640
TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAI
Length:640
Mass (Da):72,659
Last modified:December 1, 2000 - v2
<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:i5249867F0A960E0C
GO
Isoform 2 (identifier: P51168-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLLHINPAYLFKLLHGFPPWIMPTDGNLGDKNFQMGKPGHREGATM

Show »
Length:685
Mass (Da):77,703
Checksum:iED75B0423B2C083B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRM4H3BRM4_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1B
613Annotation score:

Annotation score:2 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>
H3BQ95H3BQ95_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1B
604Annotation score:

Annotation score:1 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>
H3BUQ8H3BUQ8_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1B
296Annotation score:

Annotation score:1 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>
A0A087WZI2A0A087WZI2_HUMAN
Amiloride-sensitive sodium channel ...
SCNN1B
188Annotation score:

Annotation score:1 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 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 conflicti41I → T in AAH36352 (PubMed:15489334).Curated1
Sequence conflicti314A → G in CAA60632 (PubMed:7490094).Curated1
Sequence conflicti498Y → F in AAA75459 (PubMed:7762608).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00712737G → S in PHA1B. 1 PublicationCorresponds to variant dbSNP:rs137852706EnsemblClinVar.1
Natural variantiVAR_06240182S → C in BESC1. 2 PublicationsCorresponds to variant dbSNP:rs35731153EnsemblClinVar.1
Natural variantiVAR_062402267P → L in BESC1; decreased channel activity. 1 PublicationCorresponds to variant dbSNP:rs137852709EnsemblClinVar.1
Natural variantiVAR_062403288N → S in BESC1. 1 PublicationCorresponds to variant dbSNP:rs137852712EnsemblClinVar.1
Natural variantiVAR_062404294G → S in BESC1; increased channel activity. 1 PublicationCorresponds to variant dbSNP:rs72654338EnsemblClinVar.1
Natural variantiVAR_036480311A → V in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs777888930Ensembl.1
Natural variantiVAR_036481314A → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_015836336A → P2 Publications1
Natural variantiVAR_062405348V → M in BESC1. 1 PublicationCorresponds to variant dbSNP:rs61759921Ensembl.1
Natural variantiVAR_062406369P → T in BESC1. 1 PublicationCorresponds to variant dbSNP:rs137852711EnsemblClinVar.1
Natural variantiVAR_036482387L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_015837434V → M1 PublicationCorresponds to variant dbSNP:rs201330438Ensembl.1
Natural variantiVAR_014891442G → V2 PublicationsCorresponds to variant dbSNP:rs1799980EnsemblClinVar.1
Natural variantiVAR_062407539E → K in BESC1; decreased channel activity. 1 PublicationCorresponds to variant dbSNP:rs137852710EnsemblClinVar.1
Natural variantiVAR_026519563R → Q Associated with hypertension in South African Black. 1 PublicationCorresponds to variant dbSNP:rs149868979Ensembl.1
Natural variantiVAR_015838589G → S1 PublicationCorresponds to variant dbSNP:rs61759926EnsemblClinVar.1
Natural variantiVAR_014892594T → M1 PublicationCorresponds to variant dbSNP:rs1799979Ensembl.1
Natural variantiVAR_015839597R → H1 PublicationCorresponds to variant dbSNP:rs140945152Ensembl.1
Natural variantiVAR_007128616P → L in LIDLS1. 3 PublicationsCorresponds to variant dbSNP:rs387906402EnsemblClinVar.1
Natural variantiVAR_007129616P → S in LIDLS1. 1 Publication1
Natural variantiVAR_026520617P → S in LIDLS1. 1 PublicationCorresponds to variant dbSNP:rs137852708EnsemblClinVar.1
Natural variantiVAR_026521618P → R in LIDLS1. 1 PublicationCorresponds to variant dbSNP:rs137852705Ensembl.1
Natural variantiVAR_026522620Y → H in LIDLS1; constitutive channel activation. 1 PublicationCorresponds to variant dbSNP:rs137852707EnsemblClinVar.1
Natural variantiVAR_015840624R → C1 PublicationCorresponds to variant dbSNP:rs372132399Ensembl.1
Natural variantiVAR_015841632E → G1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0077241M → MLLHINPAYLFKLLHGFPPW IMPTDGNLGDKNFQMGKPGH REGATM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X87159 mRNA Translation: CAA60632.1
L36593 mRNA Translation: AAA75459.1
AJ005383 AJ005393 Genomic DNA Translation: CAA06508.2
FJ515831 Genomic DNA Translation: ACS13723.1
BC036352 mRNA Translation: AAH36352.2
AC130452 Genomic DNA No translation available.
AF260226 mRNA Translation: AAK49394.1
U16023 Genomic DNA Translation: AAA67036.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10609.1 [P51168-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I51915

NCBI Reference Sequences

More...
RefSeqi
NP_000327.2, NM_000336.2 [P51168-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000307331; ENSP00000302874; ENSG00000168447 [P51168-2]
ENST00000343070; ENSP00000345751; ENSG00000168447 [P51168-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6338

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6338

UCSC genome browser

More...
UCSCi
uc002dln.3 human [P51168-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
X87159 mRNA Translation: CAA60632.1
L36593 mRNA Translation: AAA75459.1
AJ005383 AJ005393 Genomic DNA Translation: CAA06508.2
FJ515831 Genomic DNA Translation: ACS13723.1
BC036352 mRNA Translation: AAH36352.2
AC130452 Genomic DNA No translation available.
AF260226 mRNA Translation: AAK49394.1
U16023 Genomic DNA Translation: AAA67036.1
CCDSiCCDS10609.1 [P51168-1]
PIRiI51915
RefSeqiNP_000327.2, NM_000336.2 [P51168-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6BQNelectron microscopy3.90B73-515[»]
SMRiP51168
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112242, 19 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
CORUMiP51168
ELMiP51168
IntActiP51168, 4 interactors
MINTiP51168
STRINGi9606.ENSP00000345751

Chemistry databases

ChEMBLiCHEMBL2107836
DrugBankiDB00594 Amiloride
DB14509 Lithium carbonate
DB00384 Triamterene
DrugCentraliP51168
GuidetoPHARMACOLOGYi739

Protein family/group databases

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

PTM databases

iPTMnetiP51168
PhosphoSitePlusiP51168

Polymorphism and mutation databases

BioMutaiSCNN1B
DMDMi8928561

Proteomic databases

EPDiP51168
MassIVEiP51168
PaxDbiP51168
PeptideAtlasiP51168
PRIDEiP51168
ProteomicsDBi56295 [P51168-1]
56296 [P51168-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6338

Genome annotation databases

EnsembliENST00000307331; ENSP00000302874; ENSG00000168447 [P51168-2]
ENST00000343070; ENSP00000345751; ENSG00000168447 [P51168-1]
GeneIDi6338
KEGGihsa:6338
UCSCiuc002dln.3 human [P51168-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6338
DisGeNETi6338
EuPathDBiHostDB:ENSG00000168447.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SCNN1B
HGNCiHGNC:10600 SCNN1B
HPAiHPA015612
MalaCardsiSCNN1B
MIMi177200 phenotype
211400 phenotype
264350 phenotype
600760 gene
neXtProtiNX_P51168
OpenTargetsiENSG00000168447
Orphaneti171876 Generalized pseudohypoaldosteronism type 1
60033 Idiopathic bronchiectasis
526 Liddle syndrome
PharmGKBiPA306

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4294 Eukaryota
ENOG410ZNFK LUCA
GeneTreeiENSGT00940000160893
HOGENOMiHOG000236286
InParanoidiP51168
KOiK04825
OMAiSLVFWQW
OrthoDBi686369at2759
PhylomeDBiP51168
TreeFamiTF330663

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels
SIGNORiP51168

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SCNN1B human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SCNN1B

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

More...
GenomeRNAii
6338
PharosiP51168 Tclin

Protein Ontology

More...
PROi
PR:P51168
RNActiP51168 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168447 Expressed in 130 organ(s), highest expression level in ectocervix
ExpressionAtlasiP51168 baseline and differential
GenevisibleiP51168 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

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 nameiSCNNB_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: P51168
Secondary accession number(s): C5HTZ2
, O60891, Q96KG2, Q9UJ32, Q9UMU5
<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: December 1, 2000
Last modified: December 11, 2019
This is version 197 of the entry and version 2 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

3D-structure, Reference proteome

Documents

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