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P51170

- SCNNG_HUMAN

UniProt

P51170 - SCNNG_HUMAN

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Protein
Amiloride-sensitive sodium channel subunit gamma
Gene
SCNN1G
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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 Publication

Enzyme regulationi

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

GO - Molecular functioni

  1. WW domain binding Source: BHF-UCL
  2. ligand-gated sodium channel activity Source: ProtInc
  3. protein binding Source: UniProtKB
  4. sodium channel activity Source: ProtInc

GO - Biological processi

  1. excretion Source: ProtInc
  2. ion transmembrane transport Source: Reactome
  3. multicellular organismal water homeostasis Source: UniProtKB
  4. response to stimulus Source: UniProtKB-KW
  5. sensory perception of taste Source: UniProtKB-KW
  6. sodium ion homeostasis Source: UniProtKB
  7. sodium ion transmembrane transport Source: UniProtKB
  8. sodium ion transport Source: ProtInc
  9. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel

Keywords - Biological processi

Ion transport, Sensory transduction, Sodium transport, Taste, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:10602. SCNN1G.

Subcellular locationi

Apical cell membrane; Multi-pass membrane protein
Note: Apical membrane of epithelial cells.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5555Cytoplasmic By similarity
Add
BLAST
Transmembranei56 – 7924Helical; By similarity
Add
BLAST
Topological domaini80 – 523444Extracellular By similarity
Add
BLAST
Transmembranei524 – 55532Helical; By similarity
Add
BLAST
Topological domaini556 – 64994Cytoplasmic By similarity
Add
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB-SubCell
  2. external side of plasma membrane Source: Ensembl
  3. extracellular vesicular exosome Source: UniProt
  4. integral component of plasma membrane Source: UniProtKB
  5. plasma membrane Source: Reactome
  6. sodium channel complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Liddle syndrome (LIDDS) [MIM:177200]: Autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Bronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM:613071]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Organism-specific databases

MIMi177200. phenotype.
613071. phenotype.
Orphaneti171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBiPA307.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 649649Amiloride-sensitive sodium channel subunit gamma
PRO_0000181276Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi209 – 2091N-linked (GlcNAc...) Reviewed prediction
Glycosylationi248 – 2481N-linked (GlcNAc...) Reviewed prediction
Glycosylationi271 – 2711N-linked (GlcNAc...) Reviewed prediction
Glycosylationi291 – 2911N-linked (GlcNAc...) Reviewed prediction
Glycosylationi497 – 4971N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Phosphorylated on serine and threonine residues 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.

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiP51170.
PRIDEiP51170.

PTM databases

PhosphoSiteiP51170.

Expressioni

Tissue specificityi

Expressed in kidney (at protein level).1 Publication

Gene expression databases

ArrayExpressiP51170.
BgeeiP51170.
GenevestigatoriP51170.

Interactioni

Subunit structurei

Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. Interacts with the full length immature form of PCSK9 (pro-PCSK9) By similarity.5 Publications

Protein-protein interaction databases

BioGridi112244. 12 interactions.
IntActiP51170. 1 interaction.
MINTiMINT-198604.

Structurei

3D structure databases

ProteinModelPortaliP51170.
SMRiP51170. Positions 255-546.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294559.
HOVERGENiHBG058435.
InParanoidiP51170.
KOiK04827.
OMAiNWMYCYY.
OrthoDBiEOG7T1R9N.
PhylomeDBiP51170.
TreeFamiTF330663.

Family and domain databases

InterProiIPR004724. EnaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERiPTHR11690. PTHR11690. 1 hit.
PfamiPF00858. ASC. 1 hit.
[Graphical view]
PRINTSiPR01078. AMINACHANNEL.
TIGRFAMsiTIGR00859. ENaC. 1 hit.
PROSITEiPS01206. ASC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P51170-1 [UniParc]FASTAAdd to Basket

« Hide

MAPGEKIKAK IKKNLPVTGP QAPTIKELMR WYCLNTNTHG CRRIVVSRGR    50
LRRLLWIGFT LTAVALILWQ CALLVFSFYT VSVSIKVHFR KLDFPAVTIC 100
NINPYKYSTV RHLLADLEQE TREALKSLYG FPESRKRREA ESWNSVSEGK 150
QPRFSHRIPL LIFDQDEKGK ARDFFTGRKR KVGGSIIHKA SNVMHIESKQ 200
VVGFQLCSND TSDCATYTFS SGINAIQEWY KLHYMNIMAQ VPLEKKINMS 250
YSAEELLVTC FFDGVSCDAR NFTLFHHPMH GNCYTFNNRE NETILSTSMG 300
GSEYGLQVIL YINEEEYNPF LVSSTGAKVI IHRQDEYPFV EDVGTEIETA 350
MVTSIGMHLT ESFKLSEPYS QCTEDGSDVP IRNIYNAAYS LQICLHSCFQ 400
TKMVEKCGCA QYSQPLPPAA NYCNYQQHPN WMYCYYQLHR AFVQEELGCQ 450
SVCKEACSFK EWTLTTSLAQ WPSVVSEKWL LPVLTWDQGR QVNKKLNKTD 500
LAKLLIFYKD LNQRSIMESP ANSIEMLLSN FGGQLGLWMS CSVVCVIEII 550
EVFFIDFFSI IARRQWQKAK EWWAWKQAPP CPEAPRSPQG QDNPALDIDD 600
DLPTFNSALH LPPALGTQVP GTPPPKYNTL RLERAFSNQL TDTQMLDEL 649
Length:649
Mass (Da):74,270
Last modified:May 30, 2006 - v4
Checksum:iF67ED45F03A9BF3F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491G → C.1 Publication
Corresponds to variant rs5733 [ dbSNP | Ensembl ].
VAR_014893
Natural varianti58 – 581G → R in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036483
Natural varianti178 – 1781R → W.2 Publications
VAR_015842
Natural varianti183 – 1831G → S in a patient with bronchiectasis. 2 Publications
Corresponds to variant rs5736 [ dbSNP | Ensembl ].
VAR_014894
Natural varianti197 – 1971E → K in a patient with bronchiectasis. 1 Publication
Corresponds to variant rs5738 [ dbSNP | Ensembl ].
VAR_034485
Natural varianti502 – 5021A → P.4 Publications
VAR_015843
Natural varianti614 – 6141A → S.2 Publications
VAR_015844

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti339 – 3391F → S in CAA60633. 1 Publication
Sequence conflicti350 – 3501A → T in CAA60633. 1 Publication
Sequence conflicti369 – 3691Y → S in CAA60633. 1 Publication
Sequence conflicti375 – 3751D → G in CAA60633. 1 Publication
Sequence conflicti458 – 4581S → R in CAA60633. 1 Publication
Sequence conflicti461 – 4633EWT → DGH in AAC50758. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi108885072.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10608.1.
PIRi I38204.
I64847.
RefSeqi NP_001030.2. NM_001039.3.
UniGenei Hs.371727.

3D structure databases

ProteinModelPortali P51170.
SMRi P51170. Positions 255-546.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112244. 12 interactions.
IntActi P51170. 1 interaction.
MINTi MINT-198604.

Chemistry

ChEMBLi CHEMBL2107836.
DrugBanki DB00594. Amiloride.
DB00384. Triamterene.

Protein family/group databases

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

PTM databases

PhosphoSitei P51170.

Polymorphism databases

DMDMi 108885072.

Proteomic databases

PaxDbi P51170.
PRIDEi P51170.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300061 ; ENSP00000300061 ; ENSG00000166828 .
GeneIDi 6340.
KEGGi hsa:6340.
UCSCi uc002dlm.1. human.

Organism-specific databases

CTDi 6340.
GeneCardsi GC16P023101.
HGNCi HGNC:10602. SCNN1G.
MIMi 177200. phenotype.
600761. gene.
613071. phenotype.
neXtProti NX_P51170.
Orphaneti 171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBi PA307.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294559.
HOVERGENi HBG058435.
InParanoidi P51170.
KOi K04827.
OMAi NWMYCYY.
OrthoDBi EOG7T1R9N.
PhylomeDBi P51170.
TreeFami TF330663.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GeneWikii SCNN1G.
GenomeRNAii 6340.
NextBioi 24620.
PROi P51170.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51170.
Bgeei P51170.
Genevestigatori P51170.

Family and domain databases

InterProi IPR004724. EnaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view ]
PANTHERi PTHR11690. PTHR11690. 1 hit.
Pfami PF00858. ASC. 1 hit.
[Graphical view ]
PRINTSi PR01078. AMINACHANNEL.
TIGRFAMsi TIGR00859. ENaC. 1 hit.
PROSITEi PS01206. ASC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel."
    Voilley N., Bassilana F., Mignon C., Merscher S., Mattei M.-G., Carle G.F., Lazdunski M., Barbry P.
    Genomics 28:560-565(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Lung.
  2. "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel."
    McDonald F.J., Snyder P.M., Price M.P., Welsh M.J.
    Am. J. Physiol. 268:C1157-C1163(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS TRP-178; PRO-502 AND SER-614.
    Tissue: Kidney.
  3. "Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes."
    Saxena A., Hanukoglu I., Saxena D., Thompson R.J., Gardiner R.M., Hanukoglu A.
    J. Clin. Endocrinol. Metab. 87:3344-3350(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-502.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  5. "Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel."
    Thomas C.P., Doggett N.A., Fisher R., Stokes J.B.
    J. Biol. Chem. 271:26062-26066(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-105; 218-269; 306-392; 433-463 AND 499-515, VARIANT PRO-502.
  6. "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome."
    Hansson J.H., Nelson-Williams C., Suzuki H., Schild L., Shimkets R.A., Lu Y., Canessa C.M., Iwasaki T., Rossier B.C., Lifton R.P.
    Nat. Genet. 11:76-82(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 524-649, INVOLVEMENT IN LIDDS.
  7. "Identification of novel human WW domain-containing proteins by cloning of ligand targets."
    Pirozzi G., McConnell S.J., Uveges A.J., Carter J.M., Sparks A.B., Kay B.K., Fowlkes D.M.
    J. Biol. Chem. 272:14611-14616(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH WWP1 AND WWP2.
  8. "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel."
    Harvey K.F., Dinudom A., Cook D.I., Kumar S.
    J. Biol. Chem. 276:8597-8601(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NEDD4 AND NEDD4L.
  9. "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel."
    McDonald F.J., Western A.H., McNeil J.D., Thomas B.C., Olson D.R., Snyder P.M.
    Am. J. Physiol. 283:F431-F436(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NEDD4 AND WWP2.
  10. "Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation."
    Carattino M.D., Hughey R.P., Kleyman T.R.
    J. Biol. Chem. 283:25290-25295(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING.
  11. "Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants."
    Mutesa L., Azad A.K., Verhaeghe C., Segers K., Vanbellinghen J.F., Ngendahayo L., Rusingiza E.K., Mutwa P.R., Rulisa S., Koulischer L., Cassiman J.J., Cuppens H., Bours V.
    Chest 135:1233-1242(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BESC3.
  12. "Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."
    Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A.
    Histochem. Cell Biol. 137:339-353(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  13. "Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9)."
    Sharotri V., Collier D.M., Olson D.R., Zhou R., Snyder P.M.
    J. Biol. Chem. 287:19266-19274(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PCSK9.
  14. "Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures."
    Hobbs C.A., Blanchard M.G., Alijevic O., Tan C.D., Kellenberger S., Bencharit S., Cao R., Kesimer M., Walton W.G., Henderson A.G., Redinbo M.R., Stutts M.J., Tarran R.
    Am. J. Physiol. 305:L990-L1001(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
  15. "ENaC modulators and renal disease."
    Alvarez de la Rosa D., Navarro-Gonzalez J.F., Giraldez T.
    Curr. Mol. Pharmacol. 6:35-43(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  16. "Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?"
    Arai K., Zachman K., Shibasaki T., Chrousos G.P.
    J. Clin. Endocrinol. Metab. 84:2434-2437(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TRP-178; PRO-502 AND SER-614.
  17. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
    Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
    Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CYS-49 AND SER-183.
  18. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-58.
  19. "Could a defective epithelial sodium channel lead to bronchiectasis."
    Fajac I., Viel M., Sublemontier S., Hubert D., Bienvenu T.
    Respir. Res. 9:46-46(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SER-183 AND LYS-197, INVOLVEMENT IN BESC3.

Entry informationi

Entry nameiSCNNG_HUMAN
AccessioniPrimary (citable) accession number: P51170
Secondary accession number(s): P78437
, Q6PCC2, Q93023, Q93024, Q93025, Q93026, Q93027, Q96TD2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2006
Last modified: September 3, 2014
This is version 144 of the entry and version 4 of the sequence. [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

External Data

Dasty 3

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