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

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

GO - Cellular componenti

  1. external side of plasma membrane Source: Ensembl
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of plasma membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
  5. 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

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 gammaPRO_0000181276Add
BLAST

Amino acid modifications

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

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.2 Publications

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

BgeeiP51170.
ExpressionAtlasiP51170. baseline and differential.
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).By similarity

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP51170.
SMRiP51170. Positions 255-546.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5555CytoplasmicBy similarityAdd
BLAST
Topological domaini80 – 523444ExtracellularBy similarityAdd
BLAST
Topological domaini556 – 64994CytoplasmicBy similarityAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei56 – 7924HelicalBy similarityAdd
BLAST
Transmembranei524 – 55532HelicalBy similarityAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294559.
GeneTreeiENSGT00760000119120.
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

        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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti339 – 3391F → S in CAA60633. (PubMed:7490094)Curated
Sequence conflicti350 – 3501A → T in CAA60633. (PubMed:7490094)Curated
Sequence conflicti369 – 3691Y → S in CAA60633. (PubMed:7490094)Curated
Sequence conflicti375 – 3751D → G in CAA60633. (PubMed:7490094)Curated
Sequence conflicti458 – 4581S → R in CAA60633. (PubMed:7490094)Curated
Sequence conflicti461 – 4633EWT → DGH in AAC50758. (PubMed:8824247)Curated

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 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.
GeneTreei ENSGT00760000119120.
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

Bgeei P51170.
ExpressionAtlasi P51170. baseline and differential.
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: October 29, 2014
This is version 146 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