LOCUS U48937 3278 bp DNA linear HUM 30-APR-2000
DEFINITION Homo sapiens amiloride-sensitive epithelial sodium channel gamma
subunit gene, promoter region and exon 1.
ACCESSION U48937
VERSION U48937.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 2479 to 3278)
AUTHORS Thomas,C.P., Doggett,N.A., Fisher,R. and Stokes,J.B.
TITLE Genomic organization and the 5' flanking region of the gamma
subunit of the human amiloride-sensitive epithelial sodium channel
JOURNAL J. Biol. Chem. 271 (42), 26062-26066 (1996)
PUBMED 8824247
REFERENCE 2 (bases 1 to 3278)
AUTHORS Auerbach,S.D., Loftus,R.W., Itani,O.A. and Thomas,C.P.
TITLE Human amiloride-sensitive epithelial Na+ channel gamma subunit
promoter: functional analysis and identification of a
polypurine-polypyrimidine tract with the potential for triplex DNA
formation
JOURNAL Biochem. J. 347 (Pt 1), 105-114 (2000)
PUBMED 10727408
REFERENCE 3 (bases 2479 to 3278)
AUTHORS Thomas,C.P.
TITLE Direct Submission
JOURNAL Submitted (09-FEB-1996) Internal Medicine, University of Iowa, 200
Hawkins Drive, Iowa City, IA 52242-1081, USA
REFERENCE 4 (bases 1 to 3278)
AUTHORS Thomas,C.P.
TITLE Direct Submission
JOURNAL Submitted (05-OCT-1999) Internal Medicine, University of Iowa, 200
Hawkins Drive, Iowa City, IA 52242-1081, USA
REMARK Sequence updated by submitter
COMMENT On May 8, 2000 this sequence version replaced U48937.1.
FEATURES Location/Qualifiers
source 1..3278
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p12"
/clone="cosmid 320H2"
repeat_region 340..630
/rpt_family="Alu-Jo"
/rpt_type=dispersed
repeat_region 692..988
/rpt_family="Alu-Jb"
/rpt_type=dispersed
repeat_region 1669..1799
/rpt_family="Alu-Jo"
/rpt_type=dispersed
misc_feature 1792..2098
/note="polypurine-polypyrimidine tract"
repeat_region 2102..2393
/rpt_family="Alu-Sx"
/rpt_type=dispersed
misc_feature <2588..>3230
/note="CpG island"
regulatory 2886..2896
/regulatory_class="GC_signal"
regulatory 2916..2926
/regulatory_class="GC_signal"
mRNA 2938..>3034
/product="amiloride-sensitive epithelial sodium channel
gamma subunit"
/note="ENaC"
exon 2938..3034
/number=1
BASE COUNT 972 a 682 c 993 g 631 t
ORIGIN
1 gatctaacct taattcaata agaatctctt tgactggctt attgacaaga ggctgtggag
61 ggcagaatta gcaagattag tgaggagcct atggcaatga ttcgggtgag agacaatgat
121 caattggagc atggtggtgg ccccagaggt ggggagaagt agattctagg tatattttat
181 aaatctgaac actgatgctt caagaaggag aggacgttgc ctatggtctt atgatgacag
241 gagtggttta gaggcaatac cactctgtac tgaagaatca gatggtgttg gtcataggag
301 tgtacacatt taccaaaact ccttgacttg tacattttgg gccaggtgca gtggctcatg
361 cctgcaatca taacactttg agaggccaag gcaggcaaat ttcttgaggc caggagttca
421 agaccagcct gggcaacata gtgaaattcc atctccacaa aaataaaaaa ttagccaggc
481 atggtggcac agacctctag tcctagctac tattttgtaa tctgaggcag gaggattgct
541 tgagcccagg agttggaggc tgcagtgagc tatgatcaca ccactgcatt ccaccctggg
601 tgacagagca aaaccttgcc tcaaaaacaa acaaacaaaa aaattgtgcg tttcactgta
661 tataaatttt aacttgaatc tagcctaatt ccatgcctat aatgccagca ctttgggagg
721 ctgagatggg tagatccctt gaactcggga gttcaagacc agccttgcaa acatggtgaa
781 accccttctc taccaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaatt atttgggtat
841 cggtggcatg cacctggggt cccacctact tgggaggctg aggtgggagg atccttggag
901 ccacaggaag ttgaaactgc aagtaagcca tgatcatgcc actacattcc agcctgggtg
961 acaaagcaag accctgtctc aaaataaata aataaataaa taatttaaaa gacaaaaaga
1021 agaaaaagct ggctttattt tgcagtgaaa atataactgt gtattgtcat tcaaaacaaa
1081 cataaaattt gaacagtgtg tgtttcaaaa tcccattata tatgtatgtg tatatatata
1141 aaactaatat gtgtgtgtgg acacacacac atacacacac accaaataat aaccaaactg
1201 ttagccatgc ttatttgggg aggggggggc acagtttatt gttttaattc tttgcaatga
1261 gcatatattg ttagaagaag cagctgagat ttttttagag gattttcttt aaatttctct
1321 ccaataatgc tggacctgtt tccatccacc tgggcaaacc gcccttggac cagcaaccaa
1381 ggcatctcct aggaatttgg aaattcggac tcttaagacc cactccaccc ctatcgagtc
1441 agaatctgca ttttaacaac atccataggt gattgtaacc acattcaaat ctgagaagct
1501 ctaggtaaga acagatcctt tcctctctct gggcttcagt ttctccccgg cacaaagggg
1561 ctgtgtctct atggtccctc ccaattgcag ttttctaatc tccgtttctt gtagttatct
1621 gagtccctat aaaaaggcag ctgaagctag gaaaggtggc ttaactctct gtaattccag
1681 ctatttgaga cccctgaagt gggaggctcg cttgagccca gtagttggca gctacagtga
1741 gctatgattg cagcactgca ctccagccaa ggtgacagag gcagaccctg ttaaaaaaag
1801 aaagagagaa atagaggaaa gaaagaaaga aaaagaaaga aagaaagaaa gaaagaaagg
1861 aagaaagaaa aaggagggag ggagggagga aggaaggaag ggagagagag aaagaagaaa
1921 gagggaggaa ggaaggaagg aaggcaagca agcaagaaag agaaaggaag gaaggaagga
1981 aggaaggaag gaaggaagga aggaaggaag gaaggaaggt gggcgggcgg gaaggcaggc
2041 aggcaggcaa ggaaggaagg aggaaagaaa ggaaagaaag agagaaagag aaagaaggac
2101 aggccaggcg cggtggctca acacctgtaa tcccagcact ttgggaggcc aagacgcgtg
2161 gatcacctga ggtcagtagt ttgagaccag cctggccaac atggtgaaac cgcgtttcta
2221 ctaaaaacac aaaaattaat ccgggcatgg tggcgcgcgc ctgtaacccc agctacttgg
2281 gaggctgagg caggagaatt gcttgaaccc gggaggcgga ggttgtagtg agctgagata
2341 gcgtcattgc actccagact gggcgacaga gcgagactcc gtcaaaaaaa aaaaaaaaga
2401 aggaaagagg aaaagaaaga agaaggaagg aggaaataac gaaagaaaga gaaagaagca
2461 gctgaaaagg tcaaaggatg agtggcctgg ctgaacagcc cctgctgcct acagccggac
2521 gctggtgggc actgaagctg caggtctgga gggagtccga ggagcgaggc tgcgtgggat
2581 tactgctggt gctagggcag gcacctgcca tctggacggg agtggaagga agtcgcgggg
2641 cagtaatagg gggcagcagg cgctttgagg cgccttgggg taagtgccgc agagacccag
2701 cgggaatgca ggatggcagg gcggcctcgg ggcggcagca ggcactgcgc ggtggcccag
2761 gaaggcgcag cgcggccggg ctggggcgca gggcggcttc ggggcgccag ggggcgttgt
2821 gaagtcgtgg cccgctccgg gcggtctcag gtgcctggcg gcctggggaa agcacctggg
2881 caggtggggg cggggcctgg ggaggcgggt ccctaggggg cggggcctgg ccggcccaca
2941 agagcccgcg gtggcgctgc caggggatgc taccccgaga gcgagcagag gagcagcgca
3001 cccgcacgag ccttggaccc tttggaaccg aaaggtgagt tcagccgggt tgggtcggac
3061 cagctcgggg gttctgggca ctggagcgga tgccgggcgc cagggcgtcg gacgccgtca
3121 gcgcggtggg tggccgagcc agcatcagcc ggtggcggct tcccggtgcc cgggatgctg
3181 ggacaccttg cccgggcggt agcggccagc tctcccgggt ctacccacgc cgtggcccgg
3241 agcacgaagc cagtcgagag ccactcagag tccggggg
//