LOCUS       NM_000336               2560 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit beta (SCNN1B),
            transcript variant 1, mRNA.
ACCESSION   NM_000336
VERSION     NM_000336.3
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 2560)
  AUTHORS   Liu,Y., Duan,Y., Bai,T. and Kong,D.
  TITLE     Hypermethylation of the sodium channel beta subunit gene promoter
            is associated with colorectal cancer
  JOURNAL   Hereditas 161 (1), 39 (2024)
   PUBMED   39415304
  REMARK    GeneRIF: Hypermethylation of the sodium channel beta subunit gene
            promoter is associated with colorectal cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2560)
  AUTHORS   Kliche,J., Simonetti,L., Krystkowiak,I., Kuss,H., Diallo,M.,
            Rask,E., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Proteome-scale characterisation of motif-based interactome rewiring
            by disease mutations
  JOURNAL   Mol Syst Biol 20 (9), 1025-1048 (2024)
   PUBMED   39009827
REFERENCE   3  (bases 1 to 2560)
  AUTHORS   Yan,Y., Zhang,Y., Zhang,J. and Ying,L.
  TITLE     SCNN1B regulates the proliferation, migration, and collagen
            deposition of human lung fibroblasts
  JOURNAL   In Vitro Cell Dev Biol Anim 59 (7), 479-485 (2023)
   PUBMED   37477776
  REMARK    GeneRIF: SCNN1B regulates the proliferation, migration, and
            collagen deposition of human lung fibroblasts.
REFERENCE   4  (bases 1 to 2560)
  AUTHORS   Mohammadifard,N., Moazeni,F., Azizian-Farsani,F., Gharipour,M.,
            Khosravi,E., Sadeghian,L., Mansouri,A., Shirani,S. and
            Sarrafzadegan,N.
  TITLE     Genetic variation in salt taste receptors impact salt intake and
            blood pressure
  JOURNAL   Sci Rep 13 (1), 4037 (2023)
   PUBMED   36899055
  REMARK    GeneRIF: Genetic variation in salt taste receptors impact salt
            intake and blood pressure.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2560)
  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
REFERENCE   6  (bases 1 to 2560)
  AUTHORS   Saxena,A., Hanukoglu,I., Strautnieks,S.S., Thompson,R.J.,
            Gardiner,R.M. and Hanukoglu,A.
  TITLE     Gene structure of the human amiloride-sensitive epithelial sodium
            channel beta subunit
  JOURNAL   Biochem Biophys Res Commun 252 (1), 208-213 (1998)
   PUBMED   9813171
REFERENCE   7  (bases 1 to 2560)
  AUTHORS   Waldmann,R., Champigny,G., Bassilana,F., Voilley,N. and
            Lazdunski,M.
  TITLE     Molecular cloning and functional expression of a novel
            amiloride-sensitive Na+ channel
  JOURNAL   J Biol Chem 270 (46), 27411-27414 (1995)
   PUBMED   7499195
REFERENCE   8  (bases 1 to 2560)
  AUTHORS   Hansson,J.H., Nelson-Williams,C., Suzuki,H., Schild,L.,
            Shimkets,R., Lu,Y., Canessa,C., Iwasaki,T., Rossier,B. and
            Lifton,R.P.
  TITLE     Hypertension caused by a truncated epithelial sodium channel gamma
            subunit: genetic heterogeneity of Liddle syndrome
  JOURNAL   Nat Genet 11 (1), 76-82 (1995)
   PUBMED   7550319
REFERENCE   9  (bases 1 to 2560)
  AUTHORS   Voilley,N., Bassilana,F., Mignon,C., Merscher,S., Mattei,M.G.,
            Carle,G.F., Lazdunski,M. and Barbry,P.
  TITLE     Cloning, chromosomal localization, and physical linkage of the beta
            and gamma subunits (SCNN1B and SCNN1G) of the human epithelial
            amiloride-sensitive sodium channel
  JOURNAL   Genomics 28 (3), 560-565 (1995)
   PUBMED   7490094
REFERENCE   10 (bases 1 to 2560)
  AUTHORS   McDonald,F.J., Price,M.P., Snyder,P.M. and Welsh,M.J.
  TITLE     Cloning and expression of the beta- and gamma-subunits of the human
            epithelial sodium channel
  JOURNAL   Am J Physiol 268 (5 Pt 1), C1157-C1163 (1995)
   PUBMED   7762608
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU105979.1, BC036352.1 and
            L36593.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000336.2.
            
            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 beta
            subunit, and mutations in this gene have been associated with
            pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome.
            [provided by RefSeq, Apr 2009].
            
            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 :: MH503766.1, BC036352.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343070.7/ ENSP00000345751.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AU105979.1         33-41
            10-265              BC036352.1         1-256
            266-422             L36593.1           122-278
            423-2560            BC036352.1         414-2551
FEATURES             Location/Qualifiers
     source          1..2560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..2560
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="sodium channel epithelial 1 subunit beta"
                     /db_xref="GeneID:6338"
                     /db_xref="HGNC:HGNC:10600"
                     /db_xref="MIM:600760"
     exon            1..136
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            137..455
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..2067
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium channel epithelial 1 beta subunit; nasal epithelial
                     sodium channel beta subunit; amiloride-sensitive sodium
                     channel subunit beta 1; epithelial sodium channel beta-2
                     subunit; epithelial sodium channel beta-3 subunit;
                     epithelial Na(+) channel subunit beta; ENaC subunit beta;
                     epithelial sodium channel subunit beta; nonvoltage-gated
                     sodium channel 1 subunit beta; sodium channel,
                     non-voltage-gated 1, beta subunit; mutant sodium channel
                     epithelial 1 beta subunit"
                     /codon_start=1
                     /product="epithelial sodium channel subunit beta isoform
                     1"
                     /protein_id="NP_000327.2"
                     /db_xref="CCDS:CCDS10609.1"
                     /db_xref="GeneID:6338"
                     /db_xref="HGNC:HGNC:10600"
                     /db_xref="MIM:600760"
                     /translation="MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICE
                     GPKKKAMWFLLTLLFAALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASP
                     FKYSKIKHLLKDLDELMEAVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHH
                     PMVLDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEW
                     YILQATNIFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFN
                     WGMTEKALPSANPGTEFGLKLILDIGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGI
                     YAMSGTETSIGVLVDKLQRMGEPYSPCTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQ
                     DHMIRNCNCGHYLYPLPRGEKYCNNRDFPDWAHCYSDLQMSVAQRETCIGMCKESCND
                     TQYKMTISMADWPSEASEDWIFHVLSQERDQSTNITLSRKGIVKLNIYFQEFNYRTIE
                     ESAANNIVWLLSNLGGQFGFWMGGSVLCLIEFGEIIIDFVWITIIKLVALAKSLRQRR
                     AQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPNTGPYPSEQALPIPGTPPPNYDSLR
                     LQPLDVIESDSEGDAI"
     exon            456..729
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            730..920
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1024
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1188
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1296
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1414
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1490
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1548
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..1610
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1686
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     exon            1687..2560
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2540..2545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="hexamer: AATAAA"
     polyA_site      2560
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="major polyA site"
ORIGIN      
        1 agtcggtctc gccgcgctcg ccgggtgtcc cagtgtcacc aacactcggc cgccgccgcc
       61 agcttggcgc gcaccgccgc ctccgccacc gccgacagcg cgcatcctcc gtgtccccgc
      121 tccgccgccc gagcaggtgc cactatgcac gtgaagaagt acctgctgaa gggcctgcat
      181 cggctgcaga agggccccgg ctacacgtac aaggagctgc tggtgtggta ctgcgacaac
      241 accaacaccc acggccccaa gcgcatcatc tgtgaggggc ccaagaagaa agccatgtgg
      301 ttcctgctca ccctgctctt cgccgccctc gtctgctggc agtggggcat cttcatcagg
      361 acctacttga gctgggaggt cagcgtctcc ctctccgtag gcttcaagac catggacttc
      421 cctgccgtca ccatctgcaa tgctagcccc ttcaagtatt ccaaaatcaa gcatttgctg
      481 aaggacctgg atgagctgat ggaagctgtc ctggagagaa tcctggctcc tgagctaagc
      541 catgccaatg ccaccaggaa cctgaacttc tccatctgga accacacacc cctggtcctt
      601 attgatgaac ggaaccccca ccaccccatg gtccttgatc tctttggaga caaccacaat
      661 ggcttaacaa gcagctcagc atcagaaaag atctgtaatg cccacgggtg caaaatggcc
      721 atgagactat gtagcctcaa caggacccag tgtaccttcc ggaacttcac cagtgctacc
      781 caggcattga cagagtggta catcctgcag gccaccaaca tctttgcaca ggtgccacag
      841 caggagctag tagagatgag ctaccccggc gagcagatga tcctggcctg cctattcgga
      901 gctgagccct gcaactaccg gaacttcacg tccatcttct accctcacta tggcaactgt
      961 tacatcttca actggggcat gacagagaag gcacttcctt cggccaaccc tggaactgaa
     1021 ttcggcctga agttgatcct ggacataggc caggaagact acgtcccctt ccttgcgtcc
     1081 acggccgggg tcaggctgat gcttcacgag cagaggtcat accccttcat cagagatgag
     1141 ggcatctacg ccatgtcggg gacagagacg tccatcgggg tactcgtgga caagcttcag
     1201 cgcatggggg agccctacag cccgtgcacc gtgaatggtt ctgaggtccc cgtccaaaac
     1261 ttctacagtg actacaacac gacctactcc atccaggcct gtcttcgctc ctgcttccaa
     1321 gaccacatga tccgtaactg caactgtggc cactacctgt acccactgcc ccgtggggag
     1381 aaatactgca acaaccggga cttcccagac tgggcccatt gctactcaga tctacagatg
     1441 agcgtggcgc agagagagac ctgcattggc atgtgcaagg agtcctgcaa tgacacccag
     1501 tacaagatga ccatctccat ggctgactgg ccttctgagg cctccgagga ctggattttc
     1561 cacgtcttgt ctcaggagcg ggaccaaagc accaatatca ccctgagcag gaagggaatt
     1621 gtcaagctca acatctactt ccaagaattt aactatcgca ccattgaaga atcagcagcc
     1681 aataacatcg tctggctgct ctcgaatctg ggtggccagt ttggcttctg gatggggggc
     1741 tctgtgctgt gcctcatcga gtttggggag atcatcatcg actttgtgtg gatcaccatc
     1801 atcaagctgg tggccttggc caagagccta cggcagcggc gagcccaagc cagctacgct
     1861 ggcccaccgc ccaccgtggc cgagctggtg gaggcccaca ccaactttgg cttccagcct
     1921 gacacggccc cccgcagccc caacactggg ccctacccca gtgagcaggc cctgcccatc
     1981 ccaggcaccc cgccccccaa ctatgactcc ctgcgtctgc agccgctgga cgtcatcgag
     2041 tctgacagtg agggtgatgc catctaaccc tgcccctgcc caccccgggc ggctgaaact
     2101 cactgagcag ccaagactgt tgcccgaggc ctcactgtat ggtgccctct ccaaagggtc
     2161 gggagggtag ctctccaggc cagagcttgt gtccttcaac agagaggcca gcggcaactg
     2221 gtccgttact ggccaagggc tctgtagaat cacggtgctg gtacaggatg caggaataaa
     2281 ttgtatcttc acctggttcc taccctcgtc cctacctgtc ctgatcctgg tcctgaagac
     2341 ccctcggaac accctctcct ggtggcaggc cacttccctc ccagtgccag tctccatcca
     2401 ccccagagag gaacaggcgg gtgggccatg tggttttctc cttcctggcc ttggctggcc
     2461 tctggggcag gggtggtgga gagatggaag ggcatcaggt gtagggaccc tgccaagtgg
     2521 cacctgattt actctagaaa ataaaagtag aaaatactga
//
