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P51168

- SCNNB_HUMAN

UniProt

P51168 - SCNNB_HUMAN

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
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    • History
      Entry version 151 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    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

    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. 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

    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

    ArrayExpressiP51168.
    BgeeiP51168.
    CleanExiHS_SCNN1B.
    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.
    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

    MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA    50
    MWFLLTLLFA ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA 100
    SPFKYSKIKH LLKDLDELME AVLERILAPE LSHANATRNL NFSIWNHTPL 150
    VLIDERNPHH PMVLDLFGDN HNGLTSSSAS EKICNAHGCK MAMRLCSLNR 200
    TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY PGEQMILACL 250
    FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD 300
    IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK 350
    LQRMGEPYSP CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN 400
    CGHYLYPLPR GEKYCNNRDF PDWAHCYSDL QMSVAQRETC IGMCKESCND 450
    TQYKMTISMA DWPSEASEDW IFHVLSQERD QSTNITLSRK GIVKLNIYFQ 500
    EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF GEIIIDFVWI 550
    TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN 600
    TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAI 640
    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.
    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

    ArrayExpressi P51168.
    Bgeei P51168.
    CleanExi HS_SCNN1B.
    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

    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 1, 2014
    This is version 151 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