LOCUS       Z92978                  1202 bp    DNA     linear   HUM 14-NOV-2006
DEFINITION  H.sapiens SCNN1A gene, exons 1 and 2 and joined CDS.
ACCESSION   Z92978
VERSION     Z92978.1
KEYWORDS    epithelial amiloride-sensitive sodium channel; SCNN1A gene; sodium
            channel alpha subunit.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   2  (bases 1 to 1202)
  AUTHORS   Ludwig,M.
  JOURNAL   Submitted (14-MAR-1997) to the INSDC. Ludwig M., University of
            Bonn, Dep. of Clinical Biochemistry, Sigmund-Freud-Strasse 25,
            Bonn, NRW, Germany, 53105
REFERENCE   3
  AUTHORS   Ludwig,M., Bolkenius,U., Wickert,L., Marynen,P. and Bidlingmaier,F.
  TITLE     Structural organisation of the gene encoding the alpha-subunit of
            the human amiloride-sensitive epithelial sodium channel
  JOURNAL   Hum. Genet. 102(5), 576-581(1998).
   PUBMED   9654208
FEATURES             Location/Qualifiers
     source          1..1202
                     /organism="Homo sapiens"
                     /chromosome="12"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
     exon            1..45
                     /number=1
     intron          46..712
                     /number=1
     exon            713..1181
                     /number=2
     CDS             join(766..1181,Z92979.1:3..270,Z92980.1:782..972,
                     Z92981.1:1669..1772,Z92981.1:2115..2278,
                     Z92981.1:2703..2801,Z92981.1:2996..3113,
                     Z92981.1:3756..3834,Z92981.1:3940..3997,
                     Z92981.1:4156..4211,Z92981.1:4359..4434,
                     Z92981.1:4908..5288)
                     /gene="SCNN1A"
                     /standard_name="ENaC"
                     /product="amiloride-sensitive epithelial sodium channel
                     alpha subunit"
                     /db_xref="GOA:P37088"
                     /db_xref="HGNC:HGNC:10599"
                     /db_xref="InterPro:IPR001873"
                     /db_xref="InterPro:IPR004724"
                     /db_xref="InterPro:IPR020903"
                     /db_xref="PDB:2M3O"
                     /db_xref="UniProtKB/Swiss-Prot:P37088"
                     /protein_id="CAB07505.1"
                     /translation="MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAE
                     EEALIEFHRSYRELFEFFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQF
                     GLLFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFD
                     LYKYSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVD
                     WKDWKIGFQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLG
                     NFIFACRFNQVSCNQANYSHFHHPMYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRA
                     EQNDFIPLLSTVTGARVMVHGQDEPAFMDDGGFNLRPGVETSISMRKETLDRLGGDYG
                     DCTKNGSDVPVENLYPSKYTQQVCIHSCFQESMIKECGCAYIFYPRPQNVEYCDYRKH
                     SSWGYCYYKLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGYSRWPSVTSQEWVFQMLSR
                     QNNYTVNNKRNGVAKVNIFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFGSSVLSV
                     VEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGRGAQEVASTLASSPPSHFCPHPMSL
                     SLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP"
     intron          1182..>1202
                     /number=2
BASE COUNT          288 a          332 c          413 g          169 t
ORIGIN
        1 ccggccagcg ggcgggctcc ccagccaggc cgctgcacct gtcagtggag ggggaggaga
       61 ggtttggctg ccagattcaa ctggaaagga accagtccca gtccagccgc aacctgggag
      121 tgggaagctg gaggcagccc agacctcctg gagccctgca gtcctggggc agagacagaa
      181 tcaggacaca gctcgaggtc agggccagag gctggagctg agggcctaga gtgagagggg
      241 gcaaggcaag ggggggagag gaagagaggc aggattagag agaggaggca ggccagaaag
      301 aggagagcag gagagaccca aagagaaaca gaaggcagat agagagggag tgagaggcag
      361 gagctgagac acgagtcctg gaggaagaag accaaaggaa gggggcagag acagaaaggg
      421 aggtgctagg acaaaactcg aaaggtggcc ctatcaggga agcagaggag aggccgttct
      481 agggaagccc agctccggca cttttggccc caactcccgc aggtctgctg gctccaggaa
      541 aggtggagga gggagggagg agtgggagaa tgtgggcgca gggtgggaca tgggcatggc
      601 caggggcagc ctcactcggg ttccaggggt gatgggagag ggcactcagg gcccagagct
      661 cagccttgac cctgaccctt gctctctcca atccactccg gggctcatga agggaacaag
      721 ctggaggagc aggaccctag acctctgcag cccataccag gtctcatgga ggggaacaag
      781 ctggaggagc aggactctag ccctccacag tccactccag ggctcatgaa ggggaacaag
      841 cgtgaggagc aggggctggg ccccgaacct gcggcgcccc agcagcccac ggcggaggag
      901 gaggccctga tcgagttcca ccgctcctac cgagagctct tcgagttctt ctgcaacaac
      961 accaccatcc acggcgccat ccgcctggtg tgctcccagc acaaccgcat gaagacggcc
     1021 ttctgggcag tgctgtggct ctgcaccttt ggcatgatgt actggcaatt cggcctgctt
     1081 ttcggagagt acttcagcta ccccgtcagc ctcaacatca acctcaactc ggacaagctc
     1141 gtcttccccg cagtgaccat ctgcaccctc aatccctaca ggtcggttag tccctctgcc
     1201 cc
//