LOCUS       NM_001038               3149 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit alpha (SCNN1A),
            transcript variant 1, mRNA.
ACCESSION   NM_001038
VERSION     NM_001038.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3149)
  AUTHORS   Di,X., Hao,Y., Duan,Z., Ma,Y., Cao,Y., Tan,Z., Song,C. and Lin,X.
  TITLE     Activation of SGK1/ENaC Signaling Pathway Improves the Level of
            Decidualization in Unexplained Recurrent Spontaneous Abortion
  JOURNAL   Reprod Sci 30 (11), 3273-3284 (2023)
   PUBMED   37280474
  REMARK    GeneRIF: Activation of SGK1/ENaC Signaling Pathway Improves the
            Level of Decidualization in Unexplained Recurrent Spontaneous
            Abortion.
REFERENCE   2  (bases 1 to 3149)
  AUTHORS   Sun,H., Zhou,Y., Jiang,S., Zhao,D., Li,H., Lu,Y., Ma,B. and Zhou,B.
  TITLE     Association between low-sodium salt intervention and long-term
            blood pressure changes is modified by ENaC genetic variation: a
            gene-diet interaction analysis in a randomized controlled trial
  JOURNAL   Food Funct 14 (21), 9782-9791 (2023)
   PUBMED   37843257
  REMARK    GeneRIF: Association between low-sodium salt intervention and
            long-term blood pressure changes is modified by ENaC genetic
            variation: a gene-diet interaction analysis in a randomized
            controlled trial.
            Erratum:[Food Funct. 2024 Jan 22;15(2):1050. doi:
            10.1039/d3fo90103c.. PMID: 38126716]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3149)
  AUTHORS   Efthymiadou,A., Gautschi,I., van Bemmelen,M.X., Sertedaki,A.,
            Giannakopoulos,A., Chrousos,G., Schild,L. and Chrysis,D.
  TITLE     A mild and transient form of autosomal recessive
            pseudohypoaldosteronism type 1 caused by a novel mutation in the
            SCNN1A gene
  JOURNAL   Am J Physiol Endocrinol Metab 325 (1), E1-E9 (2023)
   PUBMED   37134141
  REMARK    GeneRIF: A mild and transient form of autosomal recessive
            pseudohypoaldosteronism type 1 caused by a novel mutation in the
            SCNN1A gene.
REFERENCE   4  (bases 1 to 3149)
  AUTHORS   Blobner,B.M., Kirabo,A., Kashlan,O.B., Sheng,S., Arnett,D.K.,
            Becker,L.C., Boerwinkle,E., Carlson,J.C., Gao,Y., Gibbs,R.A.,
            He,J., Irvin,M.R., Kardia,S.L.R., Kelly,T.N., Kooperberg,C.,
            McGarvey,S.T., Menon,V.K., Montasser,M.E., Naseri,T., Redline,S.,
            Reiner,A.P., Reupena,M.S., Smith,J.A., Sun,X., Vaidya,D.,
            Viaud-Martinez,K.A., Weeks,D.E., Yanek,L.R., Zhu,X., Minster,R.L.
            and Kleyman,T.R.
  CONSRTM   NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium*
  TITLE     Rare Variants in Genes Encoding Subunits of the Epithelial Na+
            Channel Are Associated With Blood Pressure and Kidney Function
  JOURNAL   Hypertension 79 (11), 2573-2582 (2022)
   PUBMED   36193739
  REMARK    GeneRIF: Rare Variants in Genes Encoding Subunits of the Epithelial
            Na[+] Channel Are Associated With Blood Pressure and Kidney
            Function.
REFERENCE   5  (bases 1 to 3149)
  AUTHORS   Gao,F., Wang,D., Liu,X., Wu,Y.H., Wang,H.T. and Sun,S.L.
  TITLE     Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in
            pancreatic cancer via accelerating cellular growth and metastasis
  JOURNAL   Arch Biochem Biophys 727, 109323 (2022)
   PUBMED   35714697
  REMARK    GeneRIF: Sodium channel 1 subunit alpha SCNN1A exerts oncogenic
            function in pancreatic cancer via accelerating cellular growth and
            metastasis.
REFERENCE   6  (bases 1 to 3149)
  AUTHORS   Azad,A.K., Rauh,R., Vermeulen,F., Jaspers,M., Korbmacher,J.,
            Boissier,B., Bassinet,L., Fichou,Y., des Georges,M., Stanke,F., De
            Boeck,K., Dupont,L., Balascakova,M., Hjelte,L., Lebecque,P.,
            Radojkovic,D., Castellani,C., Schwartz,M., Stuhrmann,M.,
            Schwarz,M., Skalicka,V., de Monestrol,I., Girodon,E., Ferec,C.,
            Claustres,M., Tummler,B., Cassiman,J.J., Korbmacher,C. and
            Cuppens,H.
  TITLE     Mutations in the amiloride-sensitive epithelial sodium channel in
            patients with cystic fibrosis-like disease
  JOURNAL   Hum Mutat 30 (7), 1093-1103 (2009)
   PUBMED   19462466
  REMARK    GeneRIF: a more than three-fold significant increase in incidence
            of several rare ENaC polymorphisms was found in the patient group
            (30% vs. 9% in controls), indicating an involvement of ENaC in some
            patients by a polygenetic mechanism.
REFERENCE   7  (bases 1 to 3149)
  AUTHORS   Chang,S.S., Grunder,S., Hanukoglu,A., Rosler,A., Mathew,P.M.,
            Hanukoglu,I., Schild,L., Lu,Y., Shimkets,R.A., Nelson-Williams,C.,
            Rossier,B.C. and Lifton,R.P.
  TITLE     Mutations in subunits of the epithelial sodium channel cause salt
            wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
  JOURNAL   Nat Genet 12 (3), 248-253 (1996)
   PUBMED   8589714
REFERENCE   8  (bases 1 to 3149)
  AUTHORS   Meisler,M.H., Barrow,L.L., Canessa,C.M. and Rossier,B.C.
  TITLE     SCNN1, an epithelial cell sodium channel gene in the conserved
            linkage group on mouse chromosome 6 and human chromosome 12
  JOURNAL   Genomics 24 (1), 185-186 (1994)
   PUBMED   7896277
REFERENCE   9  (bases 1 to 3149)
  AUTHORS   McDonald,F.J., Snyder,P.M., McCray,P.B. Jr. and Welsh,M.J.
  TITLE     Cloning, expression, and tissue distribution of a human
            amiloride-sensitive Na+ channel
  JOURNAL   Am J Physiol 266 (6 Pt 1), L728-L734 (1994)
   PUBMED   8023962
REFERENCE   10 (bases 1 to 3149)
  AUTHORS   Voilley,N., Lingueglia,E., Champigny,G., Mattei,M.G., Waldmann,R.,
            Lazdunski,M. and Barbry,P.
  TITLE     The lung amiloride-sensitive Na+ channel: biophysical properties,
            pharmacology, ontogenesis, and molecular cloning
  JOURNAL   Proc Natl Acad Sci U S A 91 (1), 247-251 (1994)
   PUBMED   8278374
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB232484.1 and X76180.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001038.5.
            
            Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels
            control fluid and electrolyte transport across epithelia in many
            organs. These channels are heteromeric complexes consisting of 3
            subunits: alpha, beta, and gamma. This gene encodes the alpha
            subunit, and mutations in this gene have been associated with
            pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease
            resulting from target organ unresponsiveness to mineralocorticoids.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Apr 2009].
            
            Transcript Variant: This variant (1, also known as alpha-ENaC1)
            represents the predominant transcript, and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X76180.1, SRR11853564.6196.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228916.7/ ENSP00000228916.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-398               DB232484.1         177-574
            399-3149            X76180.1           385-3135
FEATURES             Location/Qualifiers
     source          1..3149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3149
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="sodium channel epithelial 1 subunit alpha"
                     /db_xref="GeneID:6337"
                     /db_xref="HGNC:HGNC:10599"
                     /db_xref="MIM:600228"
     exon            1..59
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            60..529
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..2123
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="isoform 1 is encoded by transcript variant 1; nasal
                     epithelial sodium channel alpha subunit;
                     amiloride-sensitive sodium channel subunit alpha 2; sodium
                     channel epithelial 1 alpha subunit; alpha ENaC-2; ENaC
                     subunit alpha; epithelial sodium channel subunit alpha;
                     amiloride-sensitive epithelial sodium channel alpha
                     subunit; alpha-ENaC; alpha-NaCH; epithelial Na(+) channel
                     subunit alpha; nonvoltage-gated sodium channel 1 subunit
                     alpha; sodium channel, nonvoltage-gated 1 alpha; sodium
                     channel, non voltage gated 1 alpha subunit; sodium
                     channel, non-voltage-gated 1 alpha"
                     /codon_start=1
                     /product="epithelial sodium channel subunit alpha isoform
                     1"
                     /protein_id="NP_001029.1"
                     /db_xref="CCDS:CCDS8543.1"
                     /db_xref="GeneID:6337"
                     /db_xref="HGNC:HGNC:10599"
                     /db_xref="MIM:600228"
                     /translation="MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAE
                     EEALIEFHRSYRELFEFFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQF
                     GLLFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFD
                     LYKYSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVD
                     WKDWKIGFQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLG
                     NFIFACRFNQVSCNQANYSHFHHPMYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRA
                     EQNDFIPLLSTVTGARVMVHGQDEPAFMDDGGFNLRPGVETSISMRKETLDRLGGDYG
                     DCTKNGSDVPVENLYPSKYTQQVCIHSCFQESMIKECGCAYIFYPRPQNVEYCDYRKH
                     SSWGYCYYKLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGYSRWPSVTSQEWVFQMLSR
                     QNNYTVNNKRNGVAKVNIFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFGSSVLSV
                     VEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGRGAQEVASTLASSPPSHFCPHPMSL
                     SLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP"
     exon            530..797
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..988
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1092
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1256
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1355
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1473
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1552
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1610
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1666
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1742
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1743..3149
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3129..3134
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="hexamer: AATAAA"
     polyA_site      3149
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="major polyA site"
ORIGIN      
        1 gcttccatcc ctggccggcc agcgggcggg ctccccagcc aggccgctgc acctgtcagg
       61 ggaacaagct ggaggagcag gaccctagac ctctgcagcc cataccaggt ctcatggagg
      121 ggaacaagct ggaggagcag gactctagcc ctccacagtc cactccaggg ctcatgaagg
      181 ggaacaagcg tgaggagcag gggctgggcc ccgaacctgc ggcgccccag cagcccacgg
      241 cggaggagga ggccctgatc gagttccacc gctcctaccg agagctcttc gagttcttct
      301 gcaacaacac caccatccac ggcgccatcc gcctggtgtg ctcccagcac aaccgcatga
      361 agacggcctt ctgggcagtg ctgtggctct gcacctttgg catgatgtac tggcaattcg
      421 gcctgctttt cggagagtac ttcagctacc ccgtcagcct caacatcaac ctcaactcgg
      481 acaagctcgt cttccccgca gtgaccatct gcaccctcaa tccctacagg tacccggaaa
      541 ttaaagagga gctggaggag ctggaccgca tcacagagca gacgctcttt gacctgtaca
      601 aatacagctc cttcaccact ctcgtggccg gctcccgcag ccgtcgcgac ctgcggggga
      661 ctctgccgca ccccttgcag cgcctgaggg tcccgccccc gcctcacggg gcccgtcgag
      721 cccgtagcgt ggcctccagc ttgcgggaca acaaccccca ggtggactgg aaggactgga
      781 agatcggctt ccagctgtgc aaccagaaca aatcggactg cttctaccag acatactcat
      841 caggggtgga tgcggtgagg gagtggtacc gcttccacta catcaacatc ctgtcgaggc
      901 tgccagagac tctgccatcc ctggaggagg acacgctggg caacttcatc ttcgcctgcc
      961 gcttcaacca ggtctcctgc aaccaggcga attactctca cttccaccac ccgatgtatg
     1021 gaaactgcta tactttcaat gacaagaaca actccaacct ctggatgtct tccatgcctg
     1081 gaatcaacaa cggtctgtcc ctgatgctgc gcgcagagca gaatgacttc attcccctgc
     1141 tgtccacagt gactggggcc cgggtaatgg tgcacgggca ggatgaacct gcctttatgg
     1201 atgatggtgg ctttaacttg cggcctggcg tggagacctc catcagcatg aggaaggaaa
     1261 ccctggacag acttgggggc gattatggcg actgcaccaa gaatggcagt gatgttcctg
     1321 ttgagaacct ttacccttca aagtacacac agcaggtgtg tattcactcc tgcttccagg
     1381 agagcatgat caaggagtgt ggctgtgcct acatcttcta tccgcggccc cagaacgtgg
     1441 agtactgtga ctacagaaag cacagttcct gggggtactg ctactataag ctccaggttg
     1501 acttctcctc agaccacctg ggctgtttca ccaagtgccg gaagccatgc agcgtgacca
     1561 gctaccagct ctctgctggt tactcacgat ggccctcggt gacatcccag gaatgggtct
     1621 tccagatgct atcgcgacag aacaattaca ccgtcaacaa caagagaaat ggagtggcca
     1681 aagtcaacat cttcttcaag gagctgaact acaaaaccaa ttctgagtct ccctctgtca
     1741 cgatggtcac cctcctgtcc aacctgggca gccagtggag cctgtggttc ggctcctcgg
     1801 tgttgtctgt ggtggagatg gctgagctcg tctttgacct gctggtcatc atgttcctca
     1861 tgctgctccg aaggttccga agccgatact ggtctccagg ccgagggggc aggggtgctc
     1921 aggaggtagc ctccaccctg gcatcctccc ctccttccca cttctgcccc caccccatgt
     1981 ctctgtcctt gtcccagcca ggccctgctc cctctccagc cttgacagcc cctccccctg
     2041 cctatgccac cctgggcccc cgcccatctc cagggggctc tgcaggggcc agttcctcca
     2101 cctgtcctct gggggggccc tgagagggaa ggagaggttt ctcacaccaa ggcagatgct
     2161 cctctggtgg gagggtgctg gccctggcaa gattgaagga tgtgcagggc ttcctctcag
     2221 agccgcccaa actgccgttg atgtgtggag gggaagcaag atgggtaagg gctcaggaag
     2281 ttgctccaag aacagtagct gatgaagctg cccagaagtg ccttggctcc agccctgtac
     2341 cccttggtac tgcctctgaa cactctggtt tccccaccca actgcggcta agtctctttt
     2401 tcccttggat cagccaagcg aaacttggag ctttgacaag gaactttcct aagaaaccgc
     2461 tgataaccag gacaaaacac aaccaagggt acacgcaggc atgcacgggt ttcctgccca
     2521 gcgacggctt aagccagccc ccgactggcc tggccacact gctctccagt agcacagatg
     2581 tctgctcctc ctcttgaact tgggtgggaa accccaccca aaagccccct ttgttactta
     2641 ggcaattccc cttccctgac tcccgagggc tagggctaga gcagacccgg gtaagtaaag
     2701 gcagacccag ggctcctcta gcctcatacc cgtgccctca cagagccatg ccccggcacc
     2761 tctgccctgt gtctttcata cctctacatg tctgcttgag atatttcctc agcctgaaag
     2821 tttccccaac catctgccag agaactccta tgcatccctt agaaccctgc tcagacacca
     2881 ttacttttgt gaacgcttct gccacatctt gtcttcccca aaattgatca ctccgccttc
     2941 tcctgggctc ccgtagcaca ctataacatc tgctggagtg ttgctgttgc accatacttt
     3001 cttgtacatt tgtgtctccc ttcccaacta gactgtaagt gccttgcggt cagggactga
     3061 atcttgcccg tttatgtatg ctccatgtct agcccatcat cctgcttgga gcaagtaggc
     3121 aggagctcaa taaatgtttg ttgcatgaa
//
