LOCUS       NM_001130413            3050 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit delta (SCNN1D),
            transcript variant 1, mRNA.
ACCESSION   NM_001130413
VERSION     NM_001130413.4
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 3050)
  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   2  (bases 1 to 3050)
  AUTHORS   Shabbir,W., Topcagic,N., Aufy,M. and Oz,M.
  TITLE     CRISPR/Cas9 Mediated Knock Down of delta-ENaC Blunted the
            TNF-Induced Activation of ENaC in A549 Cells
  JOURNAL   Int J Mol Sci 22 (4), 1858 (2021)
   PUBMED   33673381
  REMARK    GeneRIF: CRISPR/Cas9 Mediated Knock Down of delta-ENaC Blunted the
            TNF-Induced Activation of ENaC in A549 Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3050)
  AUTHORS   Zhao,R., Ali,G., Chang,J., Komatsu,S., Tsukasaki,Y., Nie,H.G.,
            Chang,Y., Zhang,M., Liu,Y., Jain,K., Jung,B.G., Samten,B.,
            Jiang,D., Liang,J., Ikebe,M., Matthay,M.A. and Ji,H.L.
  TITLE     Proliferative regulation of alveolar epithelial type 2 progenitor
            cells by human Scnn1d gene
  JOURNAL   Theranostics 9 (26), 8155-8170 (2019)
   PUBMED   31754387
  REMARK    GeneRIF: Proliferative regulation of alveolar epithelial type 2
            progenitor cells by human Scnn1d gene.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3050)
  AUTHORS   Agrawal,P.B., Wang,R., Li,H.L., Schmitz-Abe,K., Simone-Roach,C.,
            Chen,J., Shi,J., Louie,T., Sheng,S., Towne,M.C., Brainson,C.F.,
            Matthay,M.A., Kim,C.F., Bamshad,M., Emond,M.J., Gerard,N.P.,
            Kleyman,T.R. and Gerard,C.
  TITLE     The Epithelial Sodium Channel Is a Modifier of the Long-Term
            Nonprogressive Phenotype Associated with F508del CFTR Mutations
  JOURNAL   Am J Respir Cell Mol Biol 57 (6), 711-720 (2017)
   PUBMED   28708422
  REMARK    GeneRIF: The Epithelial Sodium Channel Is a Modifier of the
            Long-Term Nonprogressive Phenotype Associated with F508del CFTR
            Mutations
REFERENCE   5  (bases 1 to 3050)
  AUTHORS   Rauh,R., Hoerner,C. and Korbmacher,C.
  TITLE     deltabetagamma-ENaC is inhibited by CFTR but stimulated by cAMP in
            Xenopus laevis oocytes
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 312 (2), L277-L287 (2017)
   PUBMED   27941075
  REMARK    GeneRIF: deltabetagamma-ENaC is inhibited by CFTR but activated by
            cyclic AMP.
REFERENCE   6  (bases 1 to 3050)
  AUTHORS   Ji,H.L. and Benos,D.J.
  TITLE     Degenerin sites mediate proton activation of
            deltabetagamma-epithelial sodium channel
  JOURNAL   J Biol Chem 279 (26), 26939-26947 (2004)
   PUBMED   15084585
  REMARK    GeneRIF: delta ENaC is a proton sensor
REFERENCE   7  (bases 1 to 3050)
  AUTHORS   Yamamura,H., Ugawa,S., Ueda,T., Nagao,M. and Shimada,S.
  TITLE     Protons activate the delta-subunit of the epithelial Na+ channel in
            humans
  JOURNAL   J Biol Chem 279 (13), 12529-12534 (2004)
   PUBMED   14726523
  REMARK    GeneRIF: ENaCdelta activity is regulated by protons, and may
            contribute to the pH sensation and/or pH regulation in the human
            brain
REFERENCE   8  (bases 1 to 3050)
  AUTHORS   Biasio,W., Chang,T., McIntosh,C.J. and McDonald,F.J.
  TITLE     Identification of Murr1 as a regulator of the human delta
            epithelial sodium channel
  JOURNAL   J Biol Chem 279 (7), 5429-5434 (2004)
   PUBMED   14645214
  REMARK    GeneRIF: delta ENaC is regulated by Murr1
REFERENCE   9  (bases 1 to 3050)
  AUTHORS   Waldmann,R., Bassilana,F., Voilley,N., Lazdunski,M. and Mattei,M.
  TITLE     Assignment of the human amiloride-sensitive Na+ channel delta
            isoform to chromosome 1p36.3-p36.2
  JOURNAL   Genomics 34 (2), 262-263 (1996)
   PUBMED   8661065
REFERENCE   10 (bases 1 to 3050)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX424308.2, BC040882.1, AK093239.1, BC125074.1 and BU729671.1.
            
            On May 17, 2019 this sequence version replaced NM_001130413.3.
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            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 :: AK131558.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379116.10/ ENSP00000368411.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                BX424308.2         387-445
            60-690              BC040882.1         24-654
            691-1308            AK093239.1         321-938
            1309-2679           BC125074.1         708-2078
            2680-3050           BU729671.1         18-388              c
FEATURES             Location/Qualifiers
     source          1..3050
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..3050
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /note="sodium channel epithelial 1 subunit delta"
                     /db_xref="GeneID:6339"
                     /db_xref="HGNC:HGNC:10601"
                     /db_xref="MIM:601328"
     exon            1..231
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..2635
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /note="amiloride-sensitive sodium channel subunit delta;
                     sodium channel, voltage-gated, type I, delta polypeptide;
                     delta-ENaC; delta-NaCH; epithelial Na(+) channel subunit
                     delta; nonvoltage-gated sodium channel 1 subunit delta;
                     sodium channel, nonvoltage-gated 1, delta; sodium channel,
                     non-voltage-gated 1, delta subunit; sodium channel
                     epithelial 1 delta subunit"
                     /codon_start=1
                     /product="epithelial sodium channel subunit delta"
                     /protein_id="NP_001123885.2"
                     /db_xref="CCDS:CCDS44037.2"
                     /db_xref="GeneID:6339"
                     /db_xref="HGNC:HGNC:10601"
                     /db_xref="MIM:601328"
                     /translation="MRAVLSQKTTPLPRYLWPGHLSGPRRLTWSWCSDHRTPTCRELG
                     SPHPTPCTGPARGWPRRGGGPCGFTSAGHVLCGYPLCLLSGPIQGCGTGLGDSSMAFL
                     SRTSPVAAASFQSRQEARGSILLQSCQLPPQWLSTEAWTGEWKQPHGGALTSRSPGPV
                     APQRPCHLKGWQHRPTQHNAACKQGQAAAQTPPRPGPPSAPPPPPKEGHQEGLVELPA
                     SFRELLTFFCTNATIHGAIRLVCSRGNRLKTTSWGLLSLGALVALCWQLGLLFERHWH
                     RPVLMAVSVHSERKLLPLVTLCDGNPRRPSPVLRHLELLDEFARENIDSLYNVNLSKG
                     RAALSATVPRHEPPFHLDREIRLQRLSHSGSRVRVGFRLCNSTGGDCFYRGYTSGVAA
                     VQDWYHFHYVDILALLPAAWEDSHGSQDGHFVLSCSYDGLDCQARQFRTFHHPTYGSC
                     YTVDGVWTAQRPGITHGVGLVLRVEQQPHLPLLSTLAGIRVMVHGRNHTPFLGHHSFS
                     VRPGTEATISIREDEVHRLGSPYGHCTAGGEGVEVELLHNTSYTRQACLVSCFQQLMV
                     ETCSCGYYLHPLPAGAEYCSSARHPAWGHCFYRLYQDLETHRLPCTSRCPRPCRESAF
                     KLSTGTSRWPSAKSAGWTLATLGEQGLPHQSHRQRSSLAKINIVYQELNYRSVEEAPV
                     YSVPQLLSAMGSLCSLWFGASVLSLLELLELLLDASALTLVLGGRRLRRAWFSWPRAS
                     PASGASSIKPEASQMPPPAGGTSDDPEPSGPHLPRVMLPGVLAGVSAEESWAGPQPLE
                     TLDT"
     exon            232..303
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            304..503
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            504..577
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            578..690
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            691..784
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            785..1137
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1345
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1536
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1625
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1789
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..1888
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            1889..2006
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            2007..2085
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            2086..2143
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            2144..2202
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2278
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..3050
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3032..3037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /note="hexamer: AATAAA"
     polyA_site      3050
                     /gene="SCNN1D"
                     /gene_synonym="dNaCh; ENaCd; ENaCdelta; SCNED"
                     /note="major polyA site"
ORIGIN      
        1 cctgggcgac agcgagactc catctcaata aataaaaaaa aaaaagagtt gttatcagta
       61 gaagggaatg tctggttaca gtatggcgtt gtgcagatga aggtcttatc gcagatgaag
      121 ccaccaggtc acaagcctca gagagaatca actataaatg cttctcatca gactcaaggc
      181 ctgaggtgat gctgatgctg tgcctgaatt ccagcaggga ggaggcatga gggcagtgct
      241 gtcacagaag acaacaccgc tccctcgtta cctgtggccc ggccacctca gcggcccaag
      301 gaggctcacc tggtcatggt gcagtgacca caggaccccc acatgccggg agctgggttc
      361 gccccacccc accccctgca ccgggccagc gaggggatgg cccagaagag ggggaggacc
      421 atgtggattc accagtgctg gacatgtgct ctgtggctac cccctctgcc tactctctgg
      481 cccgatacag gggtgtggga caggcctggg tgactccagc atggctttcc tctccaggac
      541 gtcaccggtg gcagctgctt ccttccagag ccggcaggag gccagaggct ccatcctgct
      601 tcagagctgc cagctgcccc cgcaatggct gagcaccgaa gcatggacgg gagaatggaa
      661 gcagccacac gggggggctc tcacctccag atcgcctggg cctgtggctc cccagaggcc
      721 ctgccacctg aagggatggc agcacagacc cactcagcac aacgctgcct gcaaacaggg
      781 ccaggctgca gcccagacgc cccccaggcc ggggccacca tcagcaccac caccaccacc
      841 caaggagggg caccaggagg ggctggtgga gctgcccgcc tcgttccggg agctgctcac
      901 cttcttctgc accaatgcca ccatccacgg cgccatccgc ctggtctgct cccgcgggaa
      961 ccgcctcaag acgacgtcct gggggctgct gtccctggga gccctggtcg cgctctgctg
     1021 gcagctgggg ctcctctttg agcgtcactg gcaccgcccg gtcctcatgg ccgtctctgt
     1081 gcactcggag cgcaagctgc tcccgctggt caccctgtgt gacgggaacc cacgtcggcc
     1141 gagtccggtc ctccgccatc tggagctgct ggacgagttt gccagggaga acattgactc
     1201 cctgtacaac gtcaacctca gcaaaggcag agccgccctc tccgccactg tcccccgcca
     1261 cgagcccccc ttccacctgg accgggagat ccgtctgcag aggctgagcc actcgggcag
     1321 ccgggtcaga gtggggttca gactgtgcaa cagcacgggc ggcgactgct tttaccgagg
     1381 ctacacgtca ggcgtggcgg ctgtccagga ctggtaccac ttccactatg tggatatcct
     1441 ggccctgctg cccgcggcat gggaggacag ccacgggagc caggacggcc acttcgtcct
     1501 ctcctgcagt tacgatggcc tggactgcca ggcccgacag ttccggacct tccaccaccc
     1561 cacctacggc agctgctaca cggtcgatgg cgtctggaca gctcagcgcc ccggcatcac
     1621 ccacggagtc ggcctggtcc tcagggttga gcagcagcct cacctccctc tgctgtccac
     1681 gctggccggc atcagggtca tggttcacgg ccgtaaccac acgcccttcc tggggcacca
     1741 cagcttcagc gtccggccag ggacggaggc caccatcagc atccgagagg acgaggtgca
     1801 ccggctcggg agcccctacg gccactgcac cgccggcggg gaaggcgtgg aggtggagct
     1861 gctacacaac acctcctaca ccaggcaggc ctgcctggtg tcctgcttcc agcagctgat
     1921 ggtggagacc tgctcctgtg gctactacct ccaccctctg ccggcggggg ctgagtactg
     1981 cagctctgcc cggcaccctg cctggggaca ctgcttctac cgcctctacc aggacctgga
     2041 gacccaccgg ctcccctgta cctcccgctg ccccaggccc tgcagggagt ctgcattcaa
     2101 gctctccact gggacctcca ggtggccttc cgccaagtca gctggatgga ctctggccac
     2161 gctaggtgaa caggggctgc cgcatcagag ccacagacag aggagcagcc tggccaaaat
     2221 caacatcgtc taccaggagc tcaactaccg ctcagtggag gaggcgcccg tgtactcggt
     2281 gccgcagctg ctctcggcca tgggcagcct ctgcagcctg tggtttgggg cctccgtcct
     2341 ctccctcctg gagctcctgg agctgctgct cgatgcttct gccctcaccc tggtgctagg
     2401 cggccgccgg ctccgcaggg cgtggttctc ctggcccaga gccagccctg cctcaggggc
     2461 gtccagcatc aagccagagg ccagtcagat gcccccgcct gcaggcggca cgtcagatga
     2521 cccggagccc agcgggcctc atctcccacg ggtgatgctt ccaggggttc tggcgggagt
     2581 ctcagccgaa gagagctggg ctgggcccca gccccttgag actctggaca cctgaaccag
     2641 acctgccagg gctgtgcgat ctcttggcct ggtccttgca gctgtggcag cagcaggctc
     2701 cccagcggcc cagggtgggc cagaccagca gcccaggaag cagcacacgc ggccgtgggg
     2761 aggcaggcac cgggcatgtc ggcgcctctg gtcaaaccac ctacactgcc tggggtgggt
     2821 ctcaaggagg cccggggcgg aggggggttc ccgcgtgcac acgagtgcgg ctggacgtgc
     2881 cgacacgcgg tgatgtaccc atgctccgtg tgtctgtgtc tgcatgtcca cacgtctgat
     2941 gcacctgtgt acgtgtgtca agcctagcca cctcagctgc agggaggcag aaggcaaggc
     3001 aggccccacg gacacacttg ggctgctctg aaataaagct gttgactcca
//
