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., 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="PDB:6BQN" /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 //