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P51168

- SCNNB_HUMAN

UniProt

P51168 - SCNNB_HUMAN

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Protein

Amiloride-sensitive sodium channel subunit beta

Gene

SCNN1B

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. 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 beta
Alternative name(s):
Beta-NaCH
Epithelial Na(+) channel subunit beta
Short name:
Beta-ENaC
Short name:
ENaCB
Nonvoltage-gated sodium channel 1 subunit beta
SCNEB
Gene namesi
Name:SCNN1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:10600. SCNN1B.

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

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → S in PHA1B. 1 Publication
VAR_007127
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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti616 – 6161P → L in LIDDS. 3 Publications
VAR_007128
Natural varianti616 – 6161P → S in LIDDS. 1 Publication
VAR_007129
Natural varianti617 – 6171P → S in LIDDS. 1 Publication
VAR_026520
Natural varianti618 – 6181P → R in LIDDS. 1 Publication
VAR_026521
Natural varianti620 – 6201Y → H in LIDDS; constitutive channel activation. 1 Publication
VAR_026522
Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]: 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti82 – 821S → C in BESC1. 2 Publications
Corresponds to variant rs35731153 [ dbSNP | Ensembl ].
VAR_062401
Natural varianti267 – 2671P → L in BESC1; decreased channel activity. 1 Publication
VAR_062402
Natural varianti288 – 2881N → S in BESC1. 1 Publication
VAR_062403
Natural varianti294 – 2941G → S in BESC1; increased channel activity. 1 Publication
VAR_062404
Natural varianti348 – 3481V → M in BESC1. 1 Publication
VAR_062405
Natural varianti369 – 3691P → T in BESC1. 1 Publication
VAR_062406
Natural varianti539 – 5391E → K in BESC1; decreased channel activity. 1 Publication
VAR_062407

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi177200. phenotype.
211400. phenotype.
264350. phenotype.
Orphaneti171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBiPA306.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 640640Amiloride-sensitive sodium channel subunit betaPRO_0000181268Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi141 – 1411N-linked (GlcNAc...)Sequence Analysis
Glycosylationi199 – 1991N-linked (GlcNAc...)Sequence Analysis
Glycosylationi207 – 2071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi260 – 2601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi364 – 3641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi378 – 3781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi449 – 4491N-linked (GlcNAc...)Sequence Analysis
Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Phosphorylated on serine and threonine residues.By similarity
N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP51168.
PRIDEiP51168.

PTM databases

PhosphoSiteiP51168.

Expressioni

Tissue specificityi

Expressed in kidney (at protein level).1 Publication

Gene expression databases

BgeeiP51168.
CleanExiHS_SCNN1B.
ExpressionAtlasiP51168. baseline and differential.
GenevestigatoriP51168.

Organism-specific databases

HPAiHPA015612.

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). Interacts with BPIFA1; the interaction is direct.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NEDD4P469344EBI-2547187,EBI-726944

Protein-protein interaction databases

BioGridi112242. 17 interactions.
IntActiP51168. 3 interactions.
MINTiMINT-198733.
STRINGi9606.ENSP00000345751.

Structurei

3D structure databases

ProteinModelPortaliP51168.
SMRiP51168. Positions 50-535.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5151CytoplasmicBy similarityAdd
BLAST
Topological domaini76 – 514439ExtracellularBy similarityAdd
BLAST
Topological domaini546 – 64095CytoplasmicBy similarityAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei52 – 7524HelicalBy similarityAdd
BLAST
Transmembranei515 – 54531HelicalBy similarityAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294559.
GeneTreeiENSGT00760000119120.
HOGENOMiHOG000236286.
HOVERGENiHBG058435.
InParanoidiP51168.
KOiK04825.
OMAiDTQYKMT.
OrthoDBiEOG7T1R9N.
PhylomeDBiP51168.
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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

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

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411I → T in AAH36352. (PubMed:15489334)Curated
Sequence conflicti314 – 3141A → G in CAA60632. (PubMed:7490094)Curated
Sequence conflicti498 – 4981Y → F in AAA75459. (PubMed:7762608)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → S in PHA1B. 1 Publication
VAR_007127
Natural varianti82 – 821S → C in BESC1. 2 Publications
Corresponds to variant rs35731153 [ dbSNP | Ensembl ].
VAR_062401
Natural varianti267 – 2671P → L in BESC1; decreased channel activity. 1 Publication
VAR_062402
Natural varianti288 – 2881N → S in BESC1. 1 Publication
VAR_062403
Natural varianti294 – 2941G → S in BESC1; increased channel activity. 1 Publication
VAR_062404
Natural varianti311 – 3111A → V in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036480
Natural varianti314 – 3141A → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036481
Natural varianti336 – 3361A → P.2 Publications
VAR_015836
Natural varianti348 – 3481V → M in BESC1. 1 Publication
VAR_062405
Natural varianti369 – 3691P → T in BESC1. 1 Publication
VAR_062406
Natural varianti387 – 3871L → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036482
Natural varianti434 – 4341V → M.1 Publication
VAR_015837
Natural varianti442 – 4421G → V.2 Publications
Corresponds to variant rs1799980 [ dbSNP | Ensembl ].
VAR_014891
Natural varianti539 – 5391E → K in BESC1; decreased channel activity. 1 Publication
VAR_062407
Natural varianti563 – 5631R → Q Associated with hypertension in South African Black. 1 Publication
VAR_026519
Natural varianti589 – 5891G → S.1 Publication
Corresponds to variant rs61759926 [ dbSNP | Ensembl ].
VAR_015838
Natural varianti594 – 5941T → M.1 Publication
Corresponds to variant rs1799979 [ dbSNP | Ensembl ].
VAR_014892
Natural varianti597 – 5971R → H.1 Publication
VAR_015839
Natural varianti616 – 6161P → L in LIDDS. 3 Publications
VAR_007128
Natural varianti616 – 6161P → S in LIDDS. 1 Publication
VAR_007129
Natural varianti617 – 6171P → S in LIDDS. 1 Publication
VAR_026520
Natural varianti618 – 6181P → R in LIDDS. 1 Publication
VAR_026521
Natural varianti620 – 6201Y → H in LIDDS; constitutive channel activation. 1 Publication
VAR_026522
Natural varianti624 – 6241R → C.1 Publication
VAR_015840
Natural varianti632 – 6321E → G.1 Publication
VAR_015841

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MLLHINPAYLFKLLHGFPPW IMPTDGNLGDKNFQMGKPGH REGATM in isoform 2. 1 PublicationVSP_007724

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X87159 mRNA. Translation: CAA60632.1.
L36593 mRNA. Translation: AAA75459.1.
AJ005383
, AJ005384, AJ005385, AJ005386, AJ005387, AJ005388, AJ005389, AJ005390, AJ005391, AJ005392, AJ005393 Genomic DNA. Translation: CAA06508.2.
FJ515831 Genomic DNA. Translation: ACS13723.1.
BC036352 mRNA. Translation: AAH36352.2.
AC130452 Genomic DNA. No translation available.
AF260226 mRNA. Translation: AAK49394.1.
U16023 Genomic DNA. Translation: AAA67036.1.
CCDSiCCDS10609.1. [P51168-1]
PIRiI51915.
RefSeqiNP_000327.2. NM_000336.2. [P51168-1]
XP_005255524.1. XM_005255467.1. [P51168-2]
UniGeneiHs.414614.

Genome annotation databases

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

Polymorphism databases

DMDMi8928561.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X87159 mRNA. Translation: CAA60632.1 .
L36593 mRNA. Translation: AAA75459.1 .
AJ005383
, AJ005384 , AJ005385 , AJ005386 , AJ005387 , AJ005388 , AJ005389 , AJ005390 , AJ005391 , AJ005392 , AJ005393 Genomic DNA. Translation: CAA06508.2 .
FJ515831 Genomic DNA. Translation: ACS13723.1 .
BC036352 mRNA. Translation: AAH36352.2 .
AC130452 Genomic DNA. No translation available.
AF260226 mRNA. Translation: AAK49394.1 .
U16023 Genomic DNA. Translation: AAA67036.1 .
CCDSi CCDS10609.1. [P51168-1 ]
PIRi I51915.
RefSeqi NP_000327.2. NM_000336.2. [P51168-1 ]
XP_005255524.1. XM_005255467.1. [P51168-2 ]
UniGenei Hs.414614.

3D structure databases

ProteinModelPortali P51168.
SMRi P51168. Positions 50-535.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112242. 17 interactions.
IntActi P51168. 3 interactions.
MINTi MINT-198733.
STRINGi 9606.ENSP00000345751.

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 P51168.

Polymorphism databases

DMDMi 8928561.

Proteomic databases

PaxDbi P51168.
PRIDEi P51168.

Protocols and materials databases

DNASUi 6338.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000307331 ; ENSP00000302874 ; ENSG00000168447 . [P51168-2 ]
ENST00000343070 ; ENSP00000345751 ; ENSG00000168447 . [P51168-1 ]
GeneIDi 6338.
KEGGi hsa:6338.
UCSCi uc002dln.3. human. [P51168-1 ]

Organism-specific databases

CTDi 6338.
GeneCardsi GC16P023221.
H-InvDB HIX0026943.
HGNCi HGNC:10600. SCNN1B.
HPAi HPA015612.
MIMi 177200. phenotype.
211400. phenotype.
264350. phenotype.
600760. gene.
neXtProti NX_P51168.
Orphaneti 171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBi PA306.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294559.
GeneTreei ENSGT00760000119120.
HOGENOMi HOG000236286.
HOVERGENi HBG058435.
InParanoidi P51168.
KOi K04825.
OMAi DTQYKMT.
OrthoDBi EOG7T1R9N.
PhylomeDBi P51168.
TreeFami TF330663.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GeneWikii SCNN1B.
GenomeRNAii 6338.
NextBioi 24612.
PROi P51168.
SOURCEi Search...

Gene expression databases

Bgeei P51168.
CleanExi HS_SCNN1B.
ExpressionAtlasi P51168. baseline and differential.
Genevestigatori P51168.

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] (ISOFORM 1).
    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] (ISOFORM 1), VARIANT PRO-336.
    Tissue: Kidney.
  3. "Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit."
    Saxena A., Hanukoglu I., Strautnieks S.S., Thompson R.J., Gardiner R.M., Hanukoglu A.
    Biochem. Biophys. Res. Commun. 252:208-213(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Epithelium.
  4. "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].
  5. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "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] (ISOFORM 1).
    Tissue: Brain, Lung and Testis.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] OF 1-259.
  8. "Separate promoters of the human epithelial sodium channel beta subunit direct expression of alternate transcripts that encode N-terminal protein variants."
    Thomas C.P., Auerbach S.D., Loftus R.W., Li X., Itani O.A.
    Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-56 (ISOFORM 2).
    Tissue: Kidney.
  9. "Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel."
    Shimkets R.A., Warnock D.G., Bositis C.M., Nelson-Williams C., Hansson J.H., Schambelan M., Gill J.R., Ulick S., Milora R.V., Findling J.W., Canessa C.M., Rossier B.C., Lifton R.P.
    Cell 79:407-414(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 515-640.
  10. "Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects."
    Hanukoglu A.
    J. Clin. Endocrinol. Metab. 73:936-944(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEFINITION OF DIFFERENT FORMS OF PSEUDOHYPOALDOSTERONISM TYPE 1.
  11. "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.
  12. "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.
  13. "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.
  14. "Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes."
    Hanukoglu A., Edelheit O., Shriki Y., Gizewska M., Dascal N., Hanukoglu I.
    J. Steroid Biochem. Mol. Biol. 111:268-274(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENOTYPE-PHENOTYPE RELATIONSHIPS IN PHA1B, LONG-TERM EFFECTS OF MUTATIONS ON PHA1B.
  15. "Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC."
    Edelheit O., Hanukoglu I., Shriki Y., Tfilin M., Dascal N., Gillis D., Hanukoglu A.
    J. Steroid Biochem. Mol. Biol. 119:84-88(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PSEUDOHYPOALDOSTERONISM TYPE 1.
  16. "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.
  17. "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.
  18. "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: INTERACTION WITH BPIFA1, FUNCTION, SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT.
  19. "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.
  20. "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: VARIANT LIDDS LEU-616.
  21. "A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity."
    Hansson J.H., Schild L., Lu Y., Wilson T.A., Gautschi I., Shimkets R.A., Nelson-Williams C., Rossier B.C., Lifton R.P.
    Proc. Natl. Acad. Sci. U.S.A. 92:11495-11499(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LIDDS LEU-616.
  22. "Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene."
    Tamura H., Schild L., Enomoto N., Matsui N., Marumo F., Rossier B.C.
    J. Clin. Invest. 97:1780-1784(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LIDDS HIS-620, CHARACTERIZATION OF VARIANT LIDDS HIS-620.
  23. "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1."
    Chang S.S., Grunder S., Hanukoglu A., Roesler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C., Rossier B.C., Lifton R.P.
    Nat. Genet. 12:248-253(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PHA1B SER-37.
  24. "Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension."
    Persu A., Barbry P., Bassilana F., Houot A.-M., Mengual R., Lazdunski M., Corvol P., Jeunemaitre X.
    Hypertension 32:129-137(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MET-434; VAL-442; SER-589; MET-594; HIS-597; CYS-624 AND GLY-632.
  25. "A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel."
    Inoue J., Iwaoka T., Tokunaga H., Takamune K., Naomi S., Araki M., Takahama K., Yamaguchi K., Tomita K.
    J. Clin. Endocrinol. Metab. 83:2210-2213(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LIDDS SER-617.
  26. Cited for: VARIANTS LIDDS LEU-616 AND SER-616.
  27. "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: VARIANT PRO-336.
  28. "A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension."
    Rayner B.L., Owen E.P., King J.A., Soule S.G., Vreede H., Opie L.H., Marais D., Davidson J.S.
    J. Hypertens. 21:921-926(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-563, ASSOCIATION WITH HYPERTENSION.
  29. "Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism."
    Edelheit O., Hanukoglu I., Gizewska M., Kandemir N., Tenenbaum-Rakover Y., Yurdakoek M., Zajaczek S., Hanukoglu A.
    Clin. Endocrinol. (Oxf.) 62:547-553(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PSEUDOHYPOALDOSTERONISM TYPE 1.
  30. "Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome."
    Sheridan M.B., Fong P., Groman J.D., Conrad C., Flume P., Diaz R., Harris C., Knowles M., Cutting G.R.
    Hum. Mol. Genet. 14:3493-3498(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BESC1 CYS-82; LEU-267; SER-294 AND LYS-539, CHARACTERIZATION OF VARIANTS BESC1 LEU-267; SER-294 AND LYS-539.
  31. "Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit."
    Furuhashi M., Kitamura K., Adachi M., Miyoshi T., Wakida N., Ura N., Shikano Y., Shinshi Y., Sakamoto K., Hayashi M., Satoh N., Nishitani T., Tomita K., Shimamoto K.
    J. Clin. Endocrinol. Metab. 90:340-344(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LIDDS ARG-618.
  32. Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-311; VAL-314 AND VAL-387.
  33. "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 BESC1 CYS-82; SER-288 AND THR-369.
  34. "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: VARIANT BESC1 MET-348, VARIANT VAL-442.

Entry informationi

Entry nameiSCNNB_HUMAN
AccessioniPrimary (citable) accession number: P51168
Secondary accession number(s): C5HTZ2
, O60891, Q96KG2, Q9UJ32, Q9UMU5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 1, 2000
Last modified: October 29, 2014
This is version 152 of the entry and version 2 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