P51168 (SCNNB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

SCNN1B

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	640 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
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. Ref.11 Ref.12 Ref.13
Subcellular location	Apical cell membrane; Multi-pass membrane protein. Note: Apical membrane of epithelial cells.
Post-translational modification	Phosphorylated on serine and threonine residues By similarity.
Involvement in disease	Defects in SCNN1B are a cause of autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350]. PHA1 is a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal recessive form that is severe, and the dominant form which is milder and due to defects in mineralocorticoid receptor. AR-PHA1 is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatraemia, hyperkalaemia, metabolic acidosis, failure to thrive and weight loss. Note=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.19 Defects in SCNN1B are a cause of Liddle syndrome (LIDDS) [MIM:177200]. It is an 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. Ref.16 Ref.17 Ref.18 Ref.21 Ref.22 Ref.27 Defects in SCNN1B are the cause of bronchiectasis with or without elevated sweat chloride type 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. Ref.26 Ref.29 Ref.30
Sequence similarities	Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Sensory transduction Sodium transport Taste Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ionic channel Sodium channel
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	excretion Traceable author statement. Source: ProtInc sensory perception of taste Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	apical plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	WW domain binding Inferred from physical interaction. Source: BHF-UCL ligand-gated sodium channel activity Traceable author statement. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 640	640	Amiloride-sensitive sodium channel subunit beta		PRO_0000181268
Regions
	Topological domain	1 – 51	51	Cytoplasmic By similarity
	Transmembrane	52 – 75	24	Helical; By similarity
	Topological domain	76 – 514	439	Extracellular By similarity
	Transmembrane	515 – 545	31	Helical; By similarity
	Topological domain	546 – 640	95	Cytoplasmic By similarity
Amino acid modifications
	Glycosylation	135	1	N-linked (GlcNAc...) Potential
	Glycosylation	141	1	N-linked (GlcNAc...) Potential
	Glycosylation	199	1	N-linked (GlcNAc...) Potential
	Glycosylation	207	1	N-linked (GlcNAc...) Potential
	Glycosylation	260	1	N-linked (GlcNAc...) Potential
	Glycosylation	364	1	N-linked (GlcNAc...) Potential
	Glycosylation	378	1	N-linked (GlcNAc...) Potential
	Glycosylation	449	1	N-linked (GlcNAc...) Potential
	Glycosylation	484	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1	1	M → MLLHINPAYLFKLLHGFPPW IMPTDGNLGDKNFQMGKPGH REGATM in isoform 2.		VSP_007724
	Natural variant	37	1	G → S in AR-PHA1. Ref.19		VAR_007127
	Natural variant	82	1	S → C in BESC1. Ref.26 Ref.29		VAR_062401
	Natural variant	267	1	P → L in BESC1; decreased channel activity. Ref.26		VAR_062402
	Natural variant	288	1	N → S in BESC1. Ref.29		VAR_062403
	Natural variant	294	1	G → S in BESC1; increased channel activity. Ref.26		VAR_062404
	Natural variant	311	1	A → V in a colorectal cancer sample; somatic mutation. Ref.28		VAR_036480
	Natural variant	314	1	A → V in a breast cancer sample; somatic mutation. Ref.28		VAR_036481
	Natural variant	336	1	A → P. Ref.2 Ref.23		VAR_015836
	Natural variant	348	1	V → M in BESC1. Ref.30		VAR_062405
	Natural variant	369	1	P → T in BESC1. Ref.29		VAR_062406
	Natural variant	387	1	L → V in a breast cancer sample; somatic mutation. Ref.28		VAR_036482
	Natural variant	434	1	V → M. Ref.20		VAR_015837
	Natural variant	442	1	G → V. Ref.20 Ref.30 Corresponds to variant rs1799980 [ dbSNP | Ensembl ].		VAR_014891
	Natural variant	539	1	E → K in BESC1; decreased channel activity. Ref.26		VAR_062407
	Natural variant	563	1	R → Q Associated with hypertension in South African Black. Ref.24		VAR_026519
	Natural variant	589	1	G → S. Ref.20		VAR_015838
	Natural variant	594	1	T → M. Ref.20 Corresponds to variant rs1799979 [ dbSNP | Ensembl ].		VAR_014892
	Natural variant	597	1	R → H. Ref.20		VAR_015839
	Natural variant	616	1	P → L in LIDDS. Ref.16 Ref.17 Ref.22		VAR_007128
	Natural variant	616	1	P → S in LIDDS. Ref.22		VAR_007129
	Natural variant	617	1	P → S in LIDDS. Ref.21		VAR_026520
	Natural variant	618	1	P → R in LIDDS. Ref.27		VAR_026521
	Natural variant	620	1	Y → H in LIDDS; constitutive channel activation. Ref.18		VAR_026522
	Natural variant	624	1	R → C. Ref.20		VAR_015840
	Natural variant	632	1	E → G. Ref.20		VAR_015841
Experimental info
	Sequence conflict	41	1	I → T in AAH36352. Ref.6
	Sequence conflict	314	1	A → G in CAA60632. Ref.1
	Sequence conflict	498	1	Y → F in AAA75459. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2000. Version 2. Checksum: 5249867F0A960E0C	FASTA	640	72,659
	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
	Isoform 2 [UniParc]. Checksum: ED75B0423B2C083B	FASTA	685	77,703
	10 20 30 40 50 60 MLLHINPAYL FKLLHGFPPW IMPTDGNLGD KNFQMGKPGH REGATMHVKK YLLKGLHRLQ 70 80 90 100 110 120 KGPGYTYKEL LVWYCDNTNT HGPKRIICEG PKKKAMWFLL TLLFAALVCW QWGIFIRTYL 130 140 150 160 170 180 SWEVSVSLSV GFKTMDFPAV TICNASPFKY SKIKHLLKDL DELMEAVLER ILAPELSHAN 190 200 210 220 230 240 ATRNLNFSIW NHTPLVLIDE RNPHHPMVLD LFGDNHNGLT SSSASEKICN AHGCKMAMRL 250 260 270 280 290 300 CSLNRTQCTF RNFTSATQAL TEWYILQATN IFAQVPQQEL VEMSYPGEQM ILACLFGAEP 310 320 330 340 350 360 CNYRNFTSIF YPHYGNCYIF NWGMTEKALP SANPGTEFGL KLILDIGQED YVPFLASTAG 370 380 390 400 410 420 VRLMLHEQRS YPFIRDEGIY AMSGTETSIG VLVDKLQRMG EPYSPCTVNG SEVPVQNFYS 430 440 450 460 470 480 DYNTTYSIQA CLRSCFQDHM IRNCNCGHYL YPLPRGEKYC NNRDFPDWAH CYSDLQMSVA 490 500 510 520 530 540 QRETCIGMCK ESCNDTQYKM TISMADWPSE ASEDWIFHVL SQERDQSTNI TLSRKGIVKL 550 560 570 580 590 600 NIYFQEFNYR TIEESAANNI VWLLSNLGGQ FGFWMGGSVL CLIEFGEIII DFVWITIIKL 610 620 630 640 650 660 VALAKSLRQR RAQASYAGPP PTVAELVEAH TNFGFQPDTA PRSPNTGPYP SEQALPIPGT 670 680 PPPNYDSLRL QPLDVIESDS EGDAI

References

	« Hide 'large scale' referencesShow '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: 7490094] [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: 7762608] [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: 9813171] [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: 12107247] [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: 15489334] [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: 10493829] [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: 7954808] [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: 1939532] [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: 9169421] [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: 11244092] [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: 12167593] [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: 18634878] [Abstract] Cited for: GENOTYPE-PHENOTYPE RELATIONSHIPS IN AR-PHA1, LONG-TERM EFFECTS OF MUTATIONS ON AR-PHA1.
[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: 20064610] [Abstract] Cited for: INVOLVEMENT IN PSEUDOHYPOALDOSTERONISM TYPE 1.
[16]	"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: 7550319] [Abstract] Cited for: VARIANT LIDDS LEU-616.
[17]	"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: 8524790] [Abstract] Cited for: VARIANT LIDDS LEU-616.
[18]	"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: 8601645] [Abstract] Cited for: VARIANT LIDDS HIS-620, CHARACTERIZATION OF VARIANT LIDDS HIS-620.
[19]	"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: 8589714] [Abstract] Cited for: VARIANT AR-PHA1 SER-37.
[20]	"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: 9674649] [Abstract] Cited for: VARIANTS MET-434; VAL-442; SER-589; MET-594; HIS-597; CYS-624 AND GLY-632.
[21]	"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: 9626162] [Abstract] Cited for: VARIANT LIDDS SER-617.
[22]	"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: 9794716] [Abstract] Cited for: VARIANTS LIDDS LEU-616 AND SER-616.
[23]	"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: 10404817] [Abstract] Cited for: VARIANT PRO-336.
[24]	"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: 12714866] [Abstract] Cited for: VARIANT GLN-563, ASSOCIATION WITH HYPERTENSION.
[25]	"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: 15853823] [Abstract] Cited for: INVOLVEMENT IN PSEUDOHYPOALDOSTERONISM TYPE 1.
[26]	"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: 16207733] [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.
[27]	"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: 15483078] [Abstract] Cited for: VARIANT LIDDS ARG-618.
[28]	"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. , 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: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-311; VAL-314 AND VAL-387.
[29]	"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: 18507830] [Abstract] Cited for: VARIANTS BESC1 CYS-82; SER-288 AND THR-369.
[30]	"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: 19017867] [Abstract] Cited for: VARIANT BESC1 MET-348, VARIANT VAL-442.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00178024. IPI00332882.
PIR	I51915.
RefSeq	NP_000327.2. NM_000336.2.
UniGene	Hs.414614.
3D structure databases
ProteinModelPortal	P51168.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51168. 1 interaction.
MINT	MINT-198733.
STRING	P51168.
Protein family/group databases
TCDB	1.A.6.1.1. epithelial Na+ channel (ENaC) family.
PTM databases
PhosphoSite	P51168.
Polymorphism databases
DMDM	8928561.
Proteomic databases
PRIDE	P51168.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307331; ENSP00000302874; ENSG00000168447. ENST00000343070; ENSP00000345751; ENSG00000168447.
GeneID	6338.
KEGG	hsa:6338.
UCSC	uc002dln.1. human.
Organism-specific databases
CTD	6338.
GeneCards	GC16P023221.
H-InvDB	HIX0026943.
HGNC	HGNC:10600. SCNN1B.
HPA	HPA015612.
MIM	177200. phenotype. 211400. phenotype. 264350. phenotype. 600760. gene.
neXtProt	NX_P51168.
Orphanet	171876. Generalized pseudohypoaldosteronism type 1. 526. Liddle syndrome.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10939.
GeneTree	ENSGT00550000074208.
HOGENOM	HBG755261.
HOVERGEN	HBG058435.
InParanoid	P51168.
OMA	GEKYCNN.
OrthoDB	EOG4SJ5D8.
Gene expression databases
ArrayExpress	P51168.
Bgee	P51168.
CleanEx	HS_SCNN1B.
Genevestigator	P51168.
GermOnline	ENSG00000168447. Homo sapiens.
Family and domain databases
InterPro	IPR004724. EnaC. IPR001873. Na+channel_ASC. IPR020903. Na+channel_ASC_CS. [Graphical view]
KO	K04825.
PANTHER	PTHR11690. Na+channel_ASC. 1 hit.
Pfam	PF00858. ASC. 1 hit. [Graphical view]
PRINTS	PR01078. AMINACHANNEL.
TIGRFAMs	TIGR00859. ENaC. 1 hit.
PROSITE	PS01206. ASC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00594. Amiloride. DB00384. Triamterene.
NextBio	24612.
SOURCE	Search...

Entry information

Entry name

SCNNB_HUMAN

Accession

Primary (citable) accession number: P51168
Secondary accession number(s): C5HTZ2 , O60891, Q96KG2, Q9UJ32, Q9UMU5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	December 1, 2000
Last modified:	January 25, 2012
This is version 123 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.