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UniProtKB - P51170 (SCNNG_HUMAN)

Entry version 199 (10 Feb 2021)
Sequence version 4 (30 May 2006)
Previous versions | rss
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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 <a href="http://www.uniprot.org/help/function%5Fsection">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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51170

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...SIGNORi		P51170

Protein family/group databases

Transport Classification Database

More...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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:10602, SCNN1G

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600761, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51170

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000166828.2

<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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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 variants 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
<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 variants 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

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		6340

MalaCards human disease database

More...MalaCardsi		SCNN1G
MIMi613071, phenotype
618114, phenotype

Open Targets

More...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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51170, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1628484

Drug and drug target database

More...DrugBanki		DB00594, Amiloride
DB14509, Lithium carbonate
DB00384, Triamterene

DrugCentral

More...DrugCentrali		P51170

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		741

Genetic variation 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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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%5Fprocessing%5Fsection">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

More...EPDi		P51170

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51170

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

More...PaxDbi		P51170

PeptideAtlas

More...PeptideAtlasi		P51170

PRoteomics IDEntifications database

More...PRIDEi		P51170

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56297

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P51170, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51170

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

More...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 adult mammalian kidney and 111 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51170, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51170, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000166828, Tissue enhanced (kidney, salivary gland)

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112244, 17 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...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

More...CORUMi		P51170

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P51170

Protein interaction database and analysis system

More...IntActi		P51170, 5 interactors

Molecular INTeraction database

More...MINTi		P51170

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000300061

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51170, 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

More...SMRi		P51170

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...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

Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4294, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160352

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020415_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51170

Identification of Orthologs from Complete Genome Data

More...OMAi		YCYYKLH

Database of Orthologous Groups

More...OrthoDBi		686369at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51170

TreeFam database of animal gene trees

More...TreeFami		TF330663

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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%5Flength">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X87160 mRNA Translation: CAA60633.1
L36592 mRNA Translation: AAA75460.1
AF356502 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

More...CCDSi		CCDS10608.1

Protein sequence database of the Protein Information Resource

More...PIRi		I38204
I64847

NCBI Reference Sequences

More...RefSeqi		NP_001030.2, NM_001039.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000300061; ENSP00000300061; ENSG00000166828

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6340

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6340

UCSC genome browser

More...UCSCi		uc002dlm.2, human

<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 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

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 microscopy3.90C78-524[»]
6WTHelectron microscopy3.06C1-649[»]
SMRiP51170
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112244, 17 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, 5 interactors
MINTiP51170
STRINGi9606.ENSP00000300061

Chemistry databases

ChEMBLiCHEMBL1628484
DrugBankiDB00594, Amiloride
DB14509, Lithium carbonate
DB00384, Triamterene
DrugCentraliP51170
GuidetoPHARMACOLOGYi741

Protein family/group databases

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

PTM databases

GlyGeniP51170, 2 sites
iPTMnetiP51170
PhosphoSitePlusiP51170

Genetic variation databases

BioMutaiSCNN1G
DMDMi108885072

Proteomic databases

EPDiP51170
MassIVEiP51170
PaxDbiP51170
PeptideAtlasiP51170
PRIDEiP51170
ProteomicsDBi56297

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25924, 378 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6340
DisGeNETi6340

GeneCards: human genes, protein and diseases

More...GeneCardsi		SCNN1G
HGNCiHGNC:10602, SCNN1G
HPAiENSG00000166828, Tissue enhanced (kidney, salivary gland)
MalaCardsiSCNN1G
MIMi600761, gene
613071, phenotype
618114, phenotype
neXtProtiNX_P51170
OpenTargetsiENSG00000166828
Orphaneti171876, Generalized pseudohypoaldosteronism type 1
60033, Idiopathic bronchiectasis
526, Liddle syndrome
PharmGKBiPA307
VEuPathDBiHostDB:ENSG00000166828.2

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4294, Eukaryota
GeneTreeiENSGT00940000160352
HOGENOMiCLU_020415_0_0_1
InParanoidiP51170
OMAiYCYYKLH
OrthoDBi686369at2759
PhylomeDBiP51170
TreeFamiTF330663

Enzyme and pathway databases

PathwayCommonsiP51170
ReactomeiR-HSA-2672351, Stimuli-sensing channels
SIGNORiP51170

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6340, 3 hits in 874 CRISPR screens

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

More...ChiTaRSi		SCNN1G, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SCNN1G

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

More...GenomeRNAii		6340
PharosiP51170, Tclin

Protein Ontology

More...PROi		PR:P51170
RNActiP51170, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000166828, Expressed in adult mammalian kidney and 111 other tissues
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

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 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%5Fand%5Fisoforms">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: February 10, 2021
This is version 199 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

3D-structure, Reference proteome

Documents

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