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P37088

- SCNNA_HUMAN

UniProt

P37088 - SCNNA_HUMAN

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Protein
Amiloride-sensitive sodium channel subunit alpha
Gene
SCNN1A, SCNN1
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. WW domain binding Source: BHF-UCL
  2. ligand-gated sodium channel activity Source: Ensembl
  3. protein binding Source: UniProtKB
Complete GO annotation...

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 alpha
Alternative name(s):
Alpha-NaCH
Epithelial Na(+) channel subunit alpha
Short name:
Alpha-ENaC
Short name:
ENaCA
Nonvoltage-gated sodium channel 1 subunit alpha
SCNEA
Gene namesi
Name:SCNN1A
Synonyms:SCNN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:10599. SCNN1A.

Subcellular locationi

Apical cell membrane; Multi-pass membrane protein. Cell projectioncilium
Note: In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8686Cytoplasmic By similarity
Add
BLAST
Transmembranei87 – 11024Helical; By similarity
Add
BLAST
Topological domaini111 – 543433Extracellular By similarity
Add
BLAST
Transmembranei544 – 57431Helical; By similarity
Add
BLAST
Topological domaini575 – 66995Cytoplasmic By similarity
Add
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. ciliary membrane Source: UniProtKB
  3. cortical actin cytoskeleton Source: Ensembl
  4. cytosol Source: Ensembl
  5. external side of plasma membrane Source: Ensembl
  6. extracellular vesicular exosome Source: UniProt
  7. integral component of plasma membrane Source: UniProtKB
  8. motile cilium Source: UniProtKB
  9. plasma membrane Source: Reactome
  10. sodium channel complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, 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.
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 (1 Publication).3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti327 – 3271G → C in PHA1B; results in a significant reduction of channel function as compared to wild-type; significantly lowers both Li+ and Na+ ion currents. 2 Publications
VAR_026518
Natural varianti562 – 5621S → L in PHA1B. 1 Publication
VAR_015834
Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021]: 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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611F → L in BESC2; hypoactive mutation resulting in reduction of protein expression and a significant decrease of amiloride-sensitive sodium currents. 1 Publication
Corresponds to variant rs61758859 [ dbSNP | Ensembl ].
VAR_060793
Natural varianti114 – 1141V → I in BESC2; hyperactive mutation resulting in a significant increase of amiloride-sensitive sodium currents. 1 Publication
Corresponds to variant rs61759861 [ dbSNP | Ensembl ].
VAR_060794
Natural varianti493 – 4931W → R Functional polymorphism resulting in a 4-fold increase of amiloride-sensitive sodium currents; found in BESC2 patients at higher frequency than in controls; associated with an incresed risk for ischemic cerebrovascular events. 3 Publications
Corresponds to variant rs5742912 [ dbSNP | Ensembl ].
VAR_015833

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi264350. phenotype.
613021. phenotype.
Orphaneti171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
PharmGKBiPA305.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 669669Amiloride-sensitive sodium channel subunit alpha
PRO_0000181261Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi232 – 2321N-linked (GlcNAc...) Reviewed prediction
Glycosylationi293 – 2931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi312 – 3121N-linked (GlcNAc...) Reviewed prediction
Glycosylationi397 – 3971N-linked (GlcNAc...) Reviewed prediction
Glycosylationi511 – 5111N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation By similarity.
ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation.

Keywords - PTMi

Glycoprotein, Ubl conjugation

Proteomic databases

PaxDbiP37088.
PRIDEiP37088.

PTM databases

PhosphoSiteiP37088.

Expressioni

Tissue specificityi

Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart.2 Publications

Inductioni

By aldosterone.1 Publication

Gene expression databases

ArrayExpressiP37088.
BgeeiP37088.
CleanExiHS_SCNN1A.
GenevestigatoriP37088.

Organism-specific databases

HPAiHPA012743.
HPA012939.

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).6 Publications

Protein-protein interaction databases

BioGridi112241. 20 interactions.
MINTiMINT-198663.
STRINGi9606.ENSP00000228916.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi644 – 6474

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M3ONMR-P638-648[»]
ProteinModelPortaliP37088.
SMRiP37088. Positions 279-566.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG288544.
HOGENOMiHOG000236286.
HOVERGENiHBG058435.
InParanoidiP37088.
KOiK04824.
OMAiSRQNNYT.
OrthoDBiEOG7T1R9N.
PhylomeDBiP37088.
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 (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P37088-1) [UniParc]FASTAAdd to Basket

Also known as: Alpha ENAC1

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

MEGNKLEEQD SSPPQSTPGL MKGNKREEQG LGPEPAAPQQ PTAEEEALIE    50
FHRSYRELFE FFCNNTTIHG AIRLVCSQHN RMKTAFWAVL WLCTFGMMYW 100
QFGLLFGEYF SYPVSLNINL NSDKLVFPAV TICTLNPYRY PEIKEELEEL 150
DRITEQTLFD LYKYSSFTTL VAGSRSRRDL RGTLPHPLQR LRVPPPPHGA 200
RRARSVASSL RDNNPQVDWK DWKIGFQLCN QNKSDCFYQT YSSGVDAVRE 250
WYRFHYINIL SRLPETLPSL EEDTLGNFIF ACRFNQVSCN QANYSHFHHP 300
MYGNCYTFND KNNSNLWMSS MPGINNGLSL MLRAEQNDFI PLLSTVTGAR 350
VMVHGQDEPA FMDDGGFNLR PGVETSISMR KETLDRLGGD YGDCTKNGSD 400
VPVENLYPSK YTQQVCIHSC FQESMIKECG CAYIFYPRPQ NVEYCDYRKH 450
SSWGYCYYKL QVDFSSDHLG CFTKCRKPCS VTSYQLSAGY SRWPSVTSQE 500
WVFQMLSRQN NYTVNNKRNG VAKVNIFFKE LNYKTNSESP SVTMVTLLSN 550
LGSQWSLWFG SSVLSVVEMA ELVFDLLVIM FLMLLRRFRS RYWSPGRGGR 600
GAQEVASTLA SSPPSHFCPH PMSLSLSQPG PAPSPALTAP PPAYATLGPR 650
PSPGGSAGAS SSTCPLGGP 669
Length:669
Mass (Da):75,704
Last modified:October 1, 1994 - v1
Checksum:i2CCF342E7DF32E72
GO
Isoform 2 (identifier: P37088-2) [UniParc]FASTAAdd to Basket

Also known as: Alpha ENAC2

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

Show »
Length:728
Mass (Da):81,856
Checksum:i206613374DFB1800
GO
Isoform 3 (identifier: P37088-3) [UniParc]FASTAAdd to Basket

Also known as: Alpha ENACx

The sequence of this isoform differs from the canonical sequence as follows:
     229-245: CNQNKSDCFYQTYSSGV → ELLSLPPPDVWKLLYFG
     246-669: Missing.

Note: Does not give rise to amiloride-sensitive ion current. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:245
Mass (Da):28,328
Checksum:iFFDC0622FFA37329
GO
Isoform 4 (identifier: P37088-4) [UniParc]FASTAAdd to Basket

Also known as: Alpha ENAC-19

The sequence of this isoform differs from the canonical sequence as follows:
     327-345: Missing.

Note: Amiloride-sensitive ion current is nearly abolished.

Show »
Length:650
Mass (Da):73,603
Checksum:i5866D42CCAF6F8B4
GO
Isoform 5 (identifier: P37088-5) [UniParc]FASTAAdd to Basket

Also known as: Alpha ENAC+22

The sequence of this isoform differs from the canonical sequence as follows:
     454-454: G → GQVRSLTPVIPALWEAEAGGSRG

Note: Does not give rise to amiloride-sensitive ion current.

Show »
Length:691
Mass (Da):77,980
Checksum:i07B981FBE74AE30B
GO
Isoform 6 (identifier: P37088-6) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:692
Mass (Da):78,234
Checksum:i3AD7710E69D1BE54
GO

Sequence cautioni

The sequence AAH06526.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611F → L in BESC2; hypoactive mutation resulting in reduction of protein expression and a significant decrease of amiloride-sensitive sodium currents. 1 Publication
Corresponds to variant rs61758859 [ dbSNP | Ensembl ].
VAR_060793
Natural varianti114 – 1141V → I in BESC2; hyperactive mutation resulting in a significant increase of amiloride-sensitive sodium currents. 1 Publication
Corresponds to variant rs61759861 [ dbSNP | Ensembl ].
VAR_060794
Natural varianti181 – 1811R → W Functional polymorphism; significant increase of amiloride-sensitive sodium currents. 2 Publications
Corresponds to variant rs55797039 [ dbSNP | Ensembl ].
VAR_060795
Natural varianti327 – 3271G → C in PHA1B; results in a significant reduction of channel function as compared to wild-type; significantly lowers both Li+ and Na+ ion currents. 2 Publications
VAR_026518
Natural varianti334 – 3341A → T Functional polymorphism; significant decrease of amiloride-sensitive sodium currents. 2 Publications
Corresponds to variant rs11542844 [ dbSNP | Ensembl ].
VAR_060796
Natural varianti402 – 4021P → H.
Corresponds to variant rs13306616 [ dbSNP | Ensembl ].
VAR_052035
Natural varianti493 – 4931W → R Functional polymorphism resulting in a 4-fold increase of amiloride-sensitive sodium currents; found in BESC2 patients at higher frequency than in controls; associated with an incresed risk for ischemic cerebrovascular events. 3 Publications
Corresponds to variant rs5742912 [ dbSNP | Ensembl ].
VAR_015833
Natural varianti562 – 5621S → L in PHA1B. 1 Publication
VAR_015834
Natural varianti573 – 5731V → I.
Corresponds to variant rs59142484 [ dbSNP | Ensembl ].
VAR_060797
Natural varianti618 – 6181C → F.1 Publication
Corresponds to variant rs3741913 [ dbSNP | Ensembl ].
VAR_022142
Natural varianti663 – 6631T → A.7 Publications
Corresponds to variant rs2228576 [ dbSNP | Ensembl ].
VAR_015835

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MGMARGSLTRVPGVMGEGTQ GPELSLDPDPCSPQSTPGLM KGNKLEEQDPRPLQPIPGLM in isoform 2.
VSP_007719
Alternative sequencei1 – 11M → MSSIKGNKLEEQDPRPLQPI PGLM in isoform 6.
VSP_043667
Alternative sequencei229 – 24517CNQNK…YSSGV → ELLSLPPPDVWKLLYFG in isoform 3.
VSP_007720Add
BLAST
Alternative sequencei246 – 669424Missing in isoform 3.
VSP_007721Add
BLAST
Alternative sequencei327 – 34519Missing in isoform 4.
VSP_007722Add
BLAST
Alternative sequencei454 – 4541G → GQVRSLTPVIPALWEAEAGG SRG in isoform 5.
VSP_007723

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X76180 mRNA. Translation: CAA53773.1.
L29007 Genomic DNA. Translation: AAA21813.1.
Z92978
, Z92979, Z92980, Z92981 Genomic DNA. Translation: CAB07505.1.
AF060913
, AF060910, AF060911, AF060912 Genomic DNA. Translation: AAD28355.1.
DQ402522 mRNA. Translation: ABD72218.1.
AK304379 mRNA. Translation: BAG65217.1.
FJ515830 Genomic DNA. Translation: ACS13721.1.
AC005840 Genomic DNA. No translation available.
AC006057 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88804.1.
BC006526 mRNA. Translation: AAH06526.2. Different initiation.
BC062613 mRNA. Translation: AAH62613.1.
U81961 Genomic DNA. Translation: AAC31773.1.
U81961 Genomic DNA. Translation: AAC31774.1.
CCDSiCCDS53738.1. [P37088-2]
CCDS53739.1. [P37088-6]
CCDS8543.1. [P37088-1]
PIRiA49585.
RefSeqiNP_001029.1. NM_001038.5. [P37088-1]
NP_001153047.1. NM_001159575.1. [P37088-6]
NP_001153048.1. NM_001159576.1. [P37088-2]
UniGeneiHs.591047.

Genome annotation databases

EnsembliENST00000228916; ENSP00000228916; ENSG00000111319. [P37088-1]
ENST00000360168; ENSP00000353292; ENSG00000111319. [P37088-2]
ENST00000543768; ENSP00000438739; ENSG00000111319. [P37088-6]
GeneIDi6337.
KEGGihsa:6337.
UCSCiuc001qnv.3. human. [P37088-1]
uc001qnw.3. human. [P37088-2]
uc010sfb.2. human. [P37088-6]

Polymorphism databases

DMDMi585966.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X76180 mRNA. Translation: CAA53773.1 .
L29007 Genomic DNA. Translation: AAA21813.1 .
Z92978
, Z92979 , Z92980 , Z92981 Genomic DNA. Translation: CAB07505.1 .
AF060913
, AF060910 , AF060911 , AF060912 Genomic DNA. Translation: AAD28355.1 .
DQ402522 mRNA. Translation: ABD72218.1 .
AK304379 mRNA. Translation: BAG65217.1 .
FJ515830 Genomic DNA. Translation: ACS13721.1 .
AC005840 Genomic DNA. No translation available.
AC006057 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88804.1 .
BC006526 mRNA. Translation: AAH06526.2 . Different initiation.
BC062613 mRNA. Translation: AAH62613.1 .
U81961 Genomic DNA. Translation: AAC31773.1 .
U81961 Genomic DNA. Translation: AAC31774.1 .
CCDSi CCDS53738.1. [P37088-2 ]
CCDS53739.1. [P37088-6 ]
CCDS8543.1. [P37088-1 ]
PIRi A49585.
RefSeqi NP_001029.1. NM_001038.5. [P37088-1 ]
NP_001153047.1. NM_001159575.1. [P37088-6 ]
NP_001153048.1. NM_001159576.1. [P37088-2 ]
UniGenei Hs.591047.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2M3O NMR - P 638-648 [» ]
ProteinModelPortali P37088.
SMRi P37088. Positions 279-566.
ModBasei Search...

Protein-protein interaction databases

BioGridi 112241. 20 interactions.
MINTi MINT-198663.
STRINGi 9606.ENSP00000228916.

Chemistry

BindingDBi P37088.
ChEMBLi CHEMBL1791.
DrugBanki DB00594. Amiloride.
DB00384. Triamterene.

Protein family/group databases

TCDBi 1.A.6.1.1. the epithelial na(+) channel (enac) family.

PTM databases

PhosphoSitei P37088.

Polymorphism databases

DMDMi 585966.

Proteomic databases

PaxDbi P37088.
PRIDEi P37088.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000228916 ; ENSP00000228916 ; ENSG00000111319 . [P37088-1 ]
ENST00000360168 ; ENSP00000353292 ; ENSG00000111319 . [P37088-2 ]
ENST00000543768 ; ENSP00000438739 ; ENSG00000111319 . [P37088-6 ]
GeneIDi 6337.
KEGGi hsa:6337.
UCSCi uc001qnv.3. human. [P37088-1 ]
uc001qnw.3. human. [P37088-2 ]
uc010sfb.2. human. [P37088-6 ]

Organism-specific databases

CTDi 6337.
GeneCardsi GC12M006456.
HGNCi HGNC:10599. SCNN1A.
HPAi HPA012743.
HPA012939.
MIMi 264350. phenotype.
600228. gene.
613021. phenotype.
neXtProti NX_P37088.
Orphaneti 171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
PharmGKBi PA305.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG288544.
HOGENOMi HOG000236286.
HOVERGENi HBG058435.
InParanoidi P37088.
KOi K04824.
OMAi SRQNNYT.
OrthoDBi EOG7T1R9N.
PhylomeDBi P37088.
TreeFami TF330663.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi SCNN1A. human.
GeneWikii SCNN1A.
GenomeRNAii 6337.
NextBioi 24608.
PROi P37088.
SOURCEi Search...

Gene expression databases

ArrayExpressi P37088.
Bgeei P37088.
CleanExi HS_SCNN1A.
Genevestigatori P37088.

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. "The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning."
    Voilley N., Lingueglia E., Champigny G., Mattei M.-G., Waldmann R., Lazdunski M., Barbry P.
    Proc. Natl. Acad. Sci. U.S.A. 91:247-251(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Lung.
  2. "Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel."
    McDonald F.J., Snyder P.M., McCray P.B. Jr., Welsh M.J.
    Am. J. Physiol. 266:L728-L734(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Kidney.
  3. "Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel."
    Ludwig M., Bolkenius U., Wickert L., Marynen P., Bidlingmaier F.
    Hum. Genet. 102:576-581(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene."
    Chow Y.H., Wang Y., Plumb J., O'Brodovich H., Hu J.
    Pediatr. Res. 46:208-214(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "Upregulated expression of ENaC in human CF nasal epithelium."
    Bangel N., Dahlhoff C., Sobczak K., Weber W.M., Kusche-Vihrog K.
    J. Cyst. Fibros. 7:197-205(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-663.
    Tissue: Nasal epithelium.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    Tissue: Trachea.
  7. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  8. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "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), VARIANT ALA-663.
    Tissue: Colon and Lung.
  11. "5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins."
    Thomas C.P., Auerbach S.D., Stokes J.B., Volk K.A.
    Am. J. Physiol. 274:C1312-C1323(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50, ALTERNATIVE SPLICING (ISOFORMS 1 AND 2).
    Tissue: Kidney.
  12. "The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene."
    Mick V.E., Itani O.A., Loftus R.W., Husted R.F., Schmidt T.J., Thomas C.P.
    Mol. Endocrinol. 15:575-588(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50 (ISOFORMS 1 AND 2), INDUCTION.
    Tissue: Placenta.
  13. "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.
  14. "Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel."
    Tucker J.K., Tamba K., Lee Y.-J., Shen L.-L., Warnock D.G., Oh Y.
    Am. J. Physiol. 274:C1081-C1089(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 3; 4 AND 5), TISSUE SPECIFICITY.
  15. "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.
  16. "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.
  17. "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.
  18. "Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation."
    Carattino M.D., Hughey R.P., Kleyman T.R.
    J. Biol. Chem. 283:25290-25295(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING.
  19. "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, VARIANT PHA1B CYS-327, CHARACTERIZATION OF VARIANT PHA1B CYS-327.
  20. "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: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  21. "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.
  22. "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: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
  23. "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.
  24. "Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension."
    Ambrosius W.T., Bloem L.J., Zhou L., Rebhun J.F., Snyder P.M., Wagner M.A., Guo C., Pratt J.H.
    Hypertension 34:631-637(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-334; PHE-618 AND ALA-663.
  25. "Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel."
    Snyder P.M., Olson D.R., Thomas B.C.
    J. Biol. Chem. 277:5-8(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NEDD4 AND NEDD4L.
  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 ALA-663.
  27. "Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel."
    Schaedel C., Marthinsen L., Kristoffersson A.-C., Kornfalt R., Nilsson K.O., Orlenius B., Holmberg L.
    J. Pediatr. 135:739-745(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PHA1B LEU-562, VARIANT ARG-493.
  28. "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: VARIANT ALA-663.
  29. "Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study."
    Hsieh K., Lalouschek W., Schillinger M., Endler G., Reisinger M., Janisiw M., Lang W., Cheng S., Wagner O., Mannhalter C.
    Clin. Chem. 51:952-956(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-663, ASSOCIATION OF VARIANT ARG-493 WITH RISK FOR ISCHEMIC CEREBROVASCULAR EVENTS.
  30. "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: VARIANT PHA1B CYS-327.
  31. "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: VARIANT TRP-181.
  32. Cited for: VARIANTS BESC2 LEU-61 AND ILE-114, VARIANTS TRP-181; THR-334; ARG-493 AND ALA-663, CHARACTERIZATION OF VARIANTS BESC2 LEU-61 AND ILE-114, CHARACTERIZATION OF VARIANTS TRP-181; THR-334 AND ARG-493.

Entry informationi

Entry nameiSCNNA_HUMAN
AccessioniPrimary (citable) accession number: P37088
Secondary accession number(s): A5X2U9
, B4E2Q5, C5HTZ0, O43271, Q6GSQ6, Q9UM64
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 1, 1994
Last modified: September 3, 2014
This is version 151 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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