LOCUS       NP_035454                699 aa            linear   ROD 16-FEB-2025
DEFINITION  epithelial sodium channel subunit alpha isoform 1 [Mus musculus].
ACCESSION   NP_035454 XP_987354
VERSION     NP_035454.3
DBSOURCE    REFSEQ: accession NM_011324.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 699)
  AUTHORS   Su,S., Wahl,A., Rugis,J., Suresh,V., Yule,D.I. and Sneyd,J.
  TITLE     A mathematical model of ENaC and Slc26a6 regulation by CFTR in
            salivary gland ducts
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 326 (5), G555-G566 (2024)
   PUBMED   38349781
  REMARK    GeneRIF: A mathematical model of ENaC and Slc26a6 regulation by
            CFTR in salivary gland ducts.
REFERENCE   2  (residues 1 to 699)
  AUTHORS   Kim,H.K., Choi,S.H., Kim,D.H. and Jeong,Y.T.
  TITLE     Comprehensive mapping of Epithelial Na+ channel alpha expression in
            the mouse brain
  JOURNAL   Brain Struct Funct 229 (3), 681-694 (2024)
   PUBMED   38305875
  REMARK    GeneRIF: Comprehensive mapping of Epithelial Na[+] channel alpha
            expression in the mouse brain.
REFERENCE   3  (residues 1 to 699)
  AUTHORS   Duan,X.P., Xiao,Y., Su,X.T., Zheng,J.Y., Gurley,S., Emathinger,J.,
            Yang,C.L., McCormick,J., Ellison,D.H., Lin,D.H. and Wang,W.H.
  TITLE     Role of Angiotensin II Type 1a Receptor (AT1aR) of Renal Tubules in
            Regulating Inwardly Rectifying Potassium Channels 4.2 (Kir4.2),
            Kir4.1, and Epithelial Na+ Channel (ENaC)
  JOURNAL   Hypertension 81 (1), 126-137 (2024)
   PUBMED   37909221
  REMARK    GeneRIF: Role of Angiotensin II Type 1a Receptor (AT1aR) of Renal
            Tubules in Regulating Inwardly Rectifying Potassium Channels 4.2
            (Kir4.2), Kir4.1, and Epithelial Na[+] Channel (ENaC).
REFERENCE   4  (residues 1 to 699)
  AUTHORS   Ehret,E., Stroh,S., Auberson,M., Ino,F., Jager,Y., Maillard,M.,
            Szabo,R., Bugge,T.H., Frateschi,S. and Hummler,E.
  TITLE     Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and
            CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity
  JOURNAL   Cells 12 (19), 2342 (2023)
   PUBMED   37830556
  REMARK    GeneRIF: Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8
            and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 699)
  AUTHORS   Soares,A.G., Contreras,J., Mironova,E., Archer,C.R., Stockand,J.D.
            and Abd El-Aziz,T.M.
  TITLE     P2Y2 receptor decreases blood pressure by inhibiting ENaC
  JOURNAL   JCI Insight 8 (14), e167704 (2023)
   PUBMED   37279066
  REMARK    GeneRIF: P2Y2 receptor decreases blood pressure by inhibiting ENaC.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 699)
  AUTHORS   Hummler,E., Barker,P., Gatzy,J., Beermann,F., Verdumo,C.,
            Schmidt,A., Boucher,R. and Rossier,B.C.
  TITLE     Early death due to defective neonatal lung liquid clearance in
            alpha-ENaC-deficient mice
  JOURNAL   Nat Genet 12 (3), 325-328 (1996)
   PUBMED   8589728
REFERENCE   7  (residues 1 to 699)
  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  (residues 1 to 699)
  AUTHORS   Brooker,D.R., Kozak,C.A. and Kleyman,T.R.
  TITLE     Epithelial sodium channel genes Scnn1b and Scnn1g are closely
            linked on distal mouse chromosome 7
  JOURNAL   Genomics 29 (3), 784-786 (1995)
   PUBMED   8575777
REFERENCE   9  (residues 1 to 699)
  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   10 (residues 1 to 699)
  AUTHORS   Canessa,C.M., Schild,L., Buell,G., Thorens,B., Gautschi,I.,
            Horisberger,J.D. and Rossier,B.C.
  TITLE     Amiloride-sensitive epithelial Na+ channel is made of three
            homologous subunits
  JOURNAL   Nature 367 (6462), 463-467 (1994)
   PUBMED   8107805
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC140324.3.
            
            On May 9, 2022 this sequence version replaced NP_035454.2.
            
            CCDS Note: The coding region has been updated to extend the
            N-terminus. The use of an alternative upstream start codon would
            result in a protein that is 1 aa longer.
            
            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 :: AK140389.1, BC040814.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849376
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 59.32 cM"
     Protein         1..699
                     /product="epithelial sodium channel subunit alpha isoform
                     1"
                     /note="sodium channel, nonvoltage-gated, type I, alpha
                     polypeptide; amiloride-sensitive sodium channel subunit
                     alpha; amiloride-sensitive epithelial sodium channel;
                     epithelial sodium channel alpha subunit; alpha-ENaC;
                     alpha-NaCH; epithelial Na(+) channel subunit alpha;
                     nonvoltage-gated sodium channel 1 subunit alpha; ENaC
                     alpha; epithelial sodium channel subunit alpha"
                     /calculated_mol_wt=78763
     Region          1..71
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     Region          79..676
                     /region_name="ENaC"
                     /note="sodium channel transporter; TIGR00859"
                     /db_xref="CDD:273304"
     Site            111..131
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     Region          200..270
                     /region_name="Gating release of inhibition by proteolysis
                     (GRIP), protease-sensitive region that is responsible for
                     the proteolytic activation of the channel.
                     /evidence=ECO:0000305|PubMed:18650438"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     Site            205..206
                     /site_type="cleavage"
                     /note="Cleavage by Furin.
                     /evidence=ECO:0000269|PubMed:15007080; propagated from
                     UniProtKB/Swiss-Prot (Q61180.2)"
     Region          211..244
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     Site            231..232
                     /site_type="cleavage"
                     /note="Cleavage by Furin.
                     /evidence=ECO:0000269|PubMed:15007080; propagated from
                     UniProtKB/Swiss-Prot (Q61180.2)"
     Site            590..610
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     Region          637..699
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     Region          669..673
                     /region_name="PY motif, recruits WW domain-containing
                     proteins and is thereby required for ubiquitination and
                     inhibition of the channel by NEDD4 and NEDD4L.
                     /evidence=ECO:0000250|UniProtKB:P37088"
                     /note="propagated from UniProtKB/Swiss-Prot (Q61180.2)"
     CDS             1..699
                     /gene="Scnn1a"
                     /gene_synonym="ENaC; mENaC; SCNEA; Scnn1"
                     /coded_by="NM_011324.3:545..2644"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS39641.2"
                     /db_xref="GeneID:20276"
                     /db_xref="MGI:MGI:101782"
ORIGIN      
        1 mldhtrapel nldldldvsn spkgsmkgnn fkeqdlcppl pmqglgkgdk reeqalgpep
       61 seprqpteee ealiefhrsy relfqffcnn ttihgairlv cskhnrmkta fwavlwlctf
      121 gmmywqfall feeyfsypvs lninlnsdkl vfpavtvctl npyryteike dleeldrite
      181 qtlfdlykyn ssytrqaggr rrstrdlrga lphplqrlrt ppppnparsa rsasssvrdn
      241 npqvdrkdwk igfqlcnqnk sdcfyqtyss gvdavrewyr fhyinilsrl pdtspaleee
      301 algsfiftcr fnqapcnqan ysqfhhpmyg ncytfnnknn snlwmssmpg vnnglsltlr
      361 teqndfipll stvtgarvmv hgqdepafmd dggfnvrpgv etsismrkea ldslggnygd
      421 ctengsdvpv knlypskytq qvcihscfqe nmikkcgcay ifypkpkgve fcdylkqssw
      481 gycyyklqaa fsldslgcfs kcrkpcsvtn yklsagysrw psvksqdwif emlslqnnyt
      541 innkrngvak lniffkelny ktnsespsvt mvsllsnlgs qwslwfgssv lsvvemaeli
      601 fdllvitlim llhrfrsryw spgrgargar evastpassf psrfcphpts pppslpqqgt
      661 tpplaltapp payatlgpsa spldsavpgs sacapamal
//
