Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P51170 (SCNNG_HUMAN)

(max 400 entries)x

Your basket is currently empty. i

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Amiloride-sensitive sodium channel subunit gamma

Gene

SCNN1G

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Enzyme regulationi

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

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • excretion Source: ProtInc
  • multicellular organismal water homeostasis Source: UniProtKB
  • response to stimulus Source: UniProtKB-KW
  • sensory perception of taste Source: UniProtKB-KW
  • sodium ion homeostasis Source: UniProtKB
  • sodium ion transmembrane transport Source: UniProtKB
  • sodium ion transport Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels
SIGNORiP51170

Protein family/group databases

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

Names & Taxonomyi

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
Gene namesi
Name:SCNN1G
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000166828.2
HGNCiHGNC:10602 SCNN1G
MIMi600761 gene
neXtProtiNX_P51170

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
Topological domaini1 – 55CytoplasmicBy similarityAdd BLAST55
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

Pathology & Biotechi

Involvement in diseasei

Liddle syndrome (LIDLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
See also OMIM:177200
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

Organism-specific databases

DisGeNETi6340
MalaCardsiSCNN1G
MIMi177200 phenotype
613071 phenotype
OpenTargetsiENSG00000166828
Orphaneti171876 Generalized pseudohypoaldosteronism type 1
60033 Idiopathic bronchiectasis
526 Liddle syndrome
PharmGKBiPA307

Chemistry databases

ChEMBLiCHEMBL2107836
DrugBankiDB00594 Amiloride
DB00384 Triamterene
GuidetoPHARMACOLOGYi741

Polymorphism and mutation databases

BioMutaiSCNN1G
DMDMi108885072

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001812761 – 649Amiloride-sensitive sodium channel subunit gammaAdd BLAST649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi209N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1

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

EPDiP51170
PaxDbiP51170
PeptideAtlasiP51170
PRIDEiP51170
ProteomicsDBi56297

PTM databases

iPTMnetiP51170
PhosphoSitePlusiP51170

Expressioni

Tissue specificityi

Expressed in kidney (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000166828
ExpressionAtlasiP51170 baseline and differential
GenevisibleiP51170 HS

Organism-specific databases

HPAiHPA071194

Interactioni

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

Binary interactionsi

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

GO - Molecular functioni

  • WW domain binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

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, 4 interactors
MINTiP51170
STRINGi9606.ENSP00000300061

Structurei

3D structure databases

ProteinModelPortaliP51170
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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

eggNOGiKOG4294 Eukaryota
ENOG410ZNFK LUCA
GeneTreeiENSGT00760000119120
HOVERGENiHBG058435
InParanoidiP51170
KOiK04827
OMAiNWMYCYY
OrthoDBiEOG091G0KW6
PhylomeDBiP51170
TreeFamiTF330663

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

Sequencei

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
Checksum:iF67ED45F03A9BF3F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Publication1
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_015844614A → S2 Publications1

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSCNNG_HUMAN
AccessioniPrimary (citable) accession number: P51170
Secondary accession number(s): P78437
, Q6PCC2, Q93023, Q93024, Q93025, Q93026, Q93027, Q96TD2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2006
Last modified: July 18, 2018
This is version 180 of the entry and version 4 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health