Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P51168 (SCNNB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 146. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SCNN1B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length640 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.17

Enzyme regulation

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

Subunit structure

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. Ref.11 Ref.12 Ref.13 Ref.16 Ref.17

Subcellular location

Apical cell membrane; Multi-pass membrane protein. Note: Apical membrane of epithelial cells. Ref.17

Post-translational modification

Phosphorylated on serine and threonine residues By similarity.

N-glycosylated. Ref.17

Involvement in disease

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.
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 (Ref.14). Ref.14 Ref.22

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. Ref.19 Ref.20 Ref.21 Ref.24 Ref.25 Ref.30

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.29 Ref.32 Ref.33

Sequence similarities

Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Sensory transduction
Sodium transport
Taste
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   LigandSodium
   Molecular functionIon channel
Sodium channel
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processexcretion

Traceable author statement PubMed 9118951. Source: ProtInc

ion transmembrane transport

Traceable author statement. Source: Reactome

multicellular organismal water homeostasis

Inferred from direct assay Ref.17. Source: UniProtKB

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

sensory perception of taste

Inferred from electronic annotation. Source: UniProtKB-KW

sodium ion homeostasis

Inferred from direct assay Ref.17. Source: UniProtKB

sodium ion transmembrane transport

Inferred from direct assay Ref.17. Source: UniProtKB

sodium ion transport

Traceable author statement PubMed 8521520. Source: ProtInc

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

external side of plasma membrane

Inferred from electronic annotation. Source: Ensembl

extracellular vesicular exosome

Inferred from direct assay PubMed 15326289. Source: UniProt

integral component of plasma membrane

Inferred from direct assay Ref.17. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

sodium channel complex

Inferred from direct assay Ref.17. Source: UniProtKB

   Molecular_functionWW domain binding

Inferred from physical interaction PubMed 10642508. Source: BHF-UCL

ligand-gated sodium channel activity

Traceable author statement PubMed 9118951. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NEDD4P469344EBI-2547187,EBI-726944

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P51168-1)

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.
Isoform 2 (identifier: P51168-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 640640Amiloride-sensitive sodium channel subunit beta
PRO_0000181268

Regions

Topological domain1 – 5151Cytoplasmic By similarity
Transmembrane52 – 7524Helical; By similarity
Topological domain76 – 514439Extracellular By similarity
Transmembrane515 – 54531Helical; By similarity
Topological domain546 – 64095Cytoplasmic By similarity

Amino acid modifications

Glycosylation1351N-linked (GlcNAc...) Potential
Glycosylation1411N-linked (GlcNAc...) Potential
Glycosylation1991N-linked (GlcNAc...) Potential
Glycosylation2071N-linked (GlcNAc...) Potential
Glycosylation2601N-linked (GlcNAc...) Potential
Glycosylation3641N-linked (GlcNAc...) Potential
Glycosylation3781N-linked (GlcNAc...) Potential
Glycosylation4491N-linked (GlcNAc...) Potential
Glycosylation4841N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11M → MLLHINPAYLFKLLHGFPPW IMPTDGNLGDKNFQMGKPGH REGATM in isoform 2.
VSP_007724
Natural variant371G → S in PHA1B. Ref.22
VAR_007127
Natural variant821S → C in BESC1. Ref.29 Ref.32
Corresponds to variant rs35731153 [ dbSNP | Ensembl ].
VAR_062401
Natural variant2671P → L in BESC1; decreased channel activity. Ref.29
VAR_062402
Natural variant2881N → S in BESC1. Ref.32
VAR_062403
Natural variant2941G → S in BESC1; increased channel activity. Ref.29
VAR_062404
Natural variant3111A → V in a colorectal cancer sample; somatic mutation. Ref.31
VAR_036480
Natural variant3141A → V in a breast cancer sample; somatic mutation. Ref.31
VAR_036481
Natural variant3361A → P. Ref.2 Ref.26
VAR_015836
Natural variant3481V → M in BESC1. Ref.33
VAR_062405
Natural variant3691P → T in BESC1. Ref.32
VAR_062406
Natural variant3871L → V in a breast cancer sample; somatic mutation. Ref.31
VAR_036482
Natural variant4341V → M. Ref.23
VAR_015837
Natural variant4421G → V. Ref.23 Ref.33
Corresponds to variant rs1799980 [ dbSNP | Ensembl ].
VAR_014891
Natural variant5391E → K in BESC1; decreased channel activity. Ref.29
VAR_062407
Natural variant5631R → Q Associated with hypertension in South African Black. Ref.27
VAR_026519
Natural variant5891G → S. Ref.23
Corresponds to variant rs61759926 [ dbSNP | Ensembl ].
VAR_015838
Natural variant5941T → M. Ref.23
Corresponds to variant rs1799979 [ dbSNP | Ensembl ].
VAR_014892
Natural variant5971R → H. Ref.23
VAR_015839
Natural variant6161P → L in LIDDS. Ref.19 Ref.20 Ref.25
VAR_007128
Natural variant6161P → S in LIDDS. Ref.25
VAR_007129
Natural variant6171P → S in LIDDS. Ref.24
VAR_026520
Natural variant6181P → R in LIDDS. Ref.30
VAR_026521
Natural variant6201Y → H in LIDDS; constitutive channel activation. Ref.21
VAR_026522
Natural variant6241R → C. Ref.23
VAR_015840
Natural variant6321E → G. Ref.23
VAR_015841

Experimental info

Sequence conflict411I → T in AAH36352. Ref.6
Sequence conflict3141A → G in CAA60632. Ref.1
Sequence conflict4981Y → F in AAA75459. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: 5249867F0A960E0C

FASTA64072,659
        10         20         30         40         50         60 
MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA MWFLLTLLFA 

        70         80         90        100        110        120 
ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA SPFKYSKIKH LLKDLDELME 

       130        140        150        160        170        180 
AVLERILAPE LSHANATRNL NFSIWNHTPL VLIDERNPHH PMVLDLFGDN HNGLTSSSAS 

       190        200        210        220        230        240 
EKICNAHGCK MAMRLCSLNR TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY 

       250        260        270        280        290        300 
PGEQMILACL FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD 

       310        320        330        340        350        360 
IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK LQRMGEPYSP 

       370        380        390        400        410        420 
CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN CGHYLYPLPR GEKYCNNRDF 

       430        440        450        460        470        480 
PDWAHCYSDL QMSVAQRETC IGMCKESCND TQYKMTISMA DWPSEASEDW IFHVLSQERD 

       490        500        510        520        530        540 
QSTNITLSRK GIVKLNIYFQ EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF 

       550        560        570        580        590        600 
GEIIIDFVWI TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN 

       610        620        630        640 
TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAI 

« Hide

Isoform 2 [UniParc].

Checksum: ED75B0423B2C083B
Show »

FASTA68577,703

References

« Hide 'large scale' references
[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]"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q."
Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D.
Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract]
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]"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.
[17]"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.
[18]"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.
[19]"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.
[20]"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.
[21]"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.
[22]"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.
[23]"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.
[24]"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.
[25]"Genetic analysis of the epithelial sodium channel in Liddle's syndrome."
Uehara Y., Sasaguri M., Kinoshita A., Tsuji E., Kiyose H., Taniguchi H., Noda K., Ideishi M., Inoue J., Tomita K., Arakawa K.
J. Hypertens. 16:1131-1135(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LIDDS LEU-616 AND SER-616.
[26]"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.
[27]"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.
[28]"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.
[29]"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.
[30]"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.
[31]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-311; VAL-314 AND VAL-387.
[32]"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.
[33]"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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X87159 mRNA. Translation: CAA60632.1.
L36593 mRNA. Translation: AAA75459.1.
AJ005383 expand/collapse EMBL AC list , 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.
PIRI51915.
RefSeqNP_000327.2. NM_000336.2.
XP_005255524.1. XM_005255467.1.
UniGeneHs.414614.

3D structure databases

ProteinModelPortalP51168.
SMRP51168. Positions 50-535.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112242. 17 interactions.
IntActP51168. 3 interactions.
MINTMINT-198733.
STRING9606.ENSP00000345751.

Chemistry

ChEMBLCHEMBL2107836.
DrugBankDB00594. Amiloride.
DB00384. Triamterene.

Protein family/group databases

TCDB1.A.6.1.1. the epithelial na(+) channel (enac) family.

PTM databases

PhosphoSiteP51168.

Polymorphism databases

DMDM8928561.

Proteomic databases

PaxDbP51168.
PRIDEP51168.

Protocols and materials databases

DNASU6338.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307331; ENSP00000302874; ENSG00000168447. [P51168-2]
ENST00000343070; ENSP00000345751; ENSG00000168447. [P51168-1]
GeneID6338.
KEGGhsa:6338.
UCSCuc002dln.3. human. [P51168-1]

Organism-specific databases

CTD6338.
GeneCardsGC16P023221.
H-InvDBHIX0026943.
HGNCHGNC:10600. SCNN1B.
HPAHPA015612.
MIM177200. phenotype.
211400. phenotype.
264350. phenotype.
600760. gene.
neXtProtNX_P51168.
Orphanet171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBPA306.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294559.
HOGENOMHOG000236286.
HOVERGENHBG058435.
InParanoidP51168.
KOK04825.
OMADTQYKMT.
OrthoDBEOG7T1R9N.
PhylomeDBP51168.
TreeFamTF330663.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP51168.
BgeeP51168.
CleanExHS_SCNN1B.
GenevestigatorP51168.

Family and domain databases

InterProIPR004724. EnaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERPTHR11690. PTHR11690. 1 hit.
PfamPF00858. ASC. 1 hit.
[Graphical view]
PRINTSPR01078. AMINACHANNEL.
TIGRFAMsTIGR00859. ENaC. 1 hit.
PROSITEPS01206. ASC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSCNN1B.
GenomeRNAi6338.
NextBio24612.
PROP51168.
SOURCESearch...

Entry information

Entry nameSCNNB_HUMAN
AccessionPrimary (citable) accession number: P51168
Secondary accession number(s): C5HTZ2 expand/collapse secondary AC list , O60891, Q96KG2, Q9UJ32, Q9UMU5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 1, 2000
Last modified: April 16, 2014
This is version 146 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM