LOCUS HSU44128 3131 bp mRNA linear HUM 31-JAN-1996
DEFINITION Human thiazide-sensitive Na-Cl cotransporter (hTSC) mRNA, complete
cds.
ACCESSION U44128
VERSION U44128.1
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 1 to 3131)
AUTHORS Simon,D.B., Nelson-Williams,C., Bia,M.J., Ellison,D., Karet,F.E.,
Morey,Molina., A., Vaara,I., Iwata,F., Cushner,H.M., Koolen,M.,
Gainza,F.J., Gitelman,H.J. and Lifton,R.P.
TITLE Gitelman's variant of Bartter's syndrome, inherited hypokalaemic
alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl
cotransporter
JOURNAL Nat. Genet. 12 (1), 24-30 (1996)
PUBMED 8528245
REFERENCE 2 (bases 1 to 3131)
AUTHORS Simon,D.B., Nelson-Williams,C., Ellison,D. and Lifton,R.P.
TITLE Direct Submission
JOURNAL Submitted (02-JAN-1996) David B. Simon, Internal Medicine, Yale
University, 295 Congress Avenue, New Haven, CT 06510, USA
FEATURES Location/Qualifiers
source 1..3131
/db_xref="H-InvDB:HIT000219915"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q13"
gene 1..3131
/gene="hTSC"
CDS 7..3099
/gene="hTSC"
/codon_start=1
/product="thiazide-sensitive Na-Cl"
/protein_id="AAC50355.1"
/translation="MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSH
LTHSSTFCMRTFGYNTIDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHA
LAFDSRPSHEMTDGLVEGEAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLP
WITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGS
IGLIFAFANAVGVAMHTVGFAETVRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISL
AGMEWESKAQVLFFLVIMVSFANYLVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWR
GPDGTFFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISAT
IGSCVVRDASGVLNDTVTPGWGACEGLACSYGWNFTECTQQHSCHYGLINYYQTMSMV
SGFAPLITAGIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRG
YLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITNSPGWRPSFQYYN
KWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLA
LSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVDFVGTFTRNLSLMICGHVLIGPH
KQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMKPNILVV
GFKKNWQSAHPATVEDYIGILHDAFEFNYGVCVMRMREGLNVSKMMQAHINPVFDPAE
DGKEASARGARPSVSGALDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDGGLTLLIP
YLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDINQNPRA
EHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLNEIV
LDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ
"
exon 7..288
/gene="hTSC"
/number=1
exon 289..435
/gene="hTSC"
/number=2
exon 436..511
/gene="hTSC"
/number=3
exon 512..607
/gene="hTSC"
/number=4
exon 608..747
/gene="hTSC"
/number=5
exon 748..858
/gene="hTSC"
/number=6
exon 859..970
/gene="hTSC"
/number=7
exon 971..1101
/gene="hTSC"
/number=8
exon 1102..1186
/gene="hTSC"
/number=9
exon 1187..1341
/gene="hTSC"
/number=10
exon 1342..1449
/gene="hTSC"
/number=11
exon 1450..1573
/gene="hTSC"
/number=12
exon 1574..1675
/gene="hTSC"
/number=13
exon 1676..1831
/gene="hTSC"
/number=14
exon 1832..1931
/gene="hTSC"
/number=15
exon 1932..2043
/gene="hTSC"
/number=16
exon 2044..2184
/gene="hTSC"
/number=17
exon 2185..2291
/gene="hTSC"
/number=18
exon 2292..2374
/gene="hTSC"
/number=19
exon 2375..2452
/gene="hTSC"
/number=20
exon 2453..2554
/gene="hTSC"
/number=21
exon 2555..2666
/gene="hTSC"
/number=22
exon 2667..2753
/gene="hTSC"
/number=23
exon 2754..2889
/gene="hTSC"
/number=24
exon 2890..2952
/gene="hTSC"
/number=25
exon 2953..3099
/gene="hTSC"
/number=26
BASE COUNT 636 a 987 c 850 g 658 t
ORIGIN
1 gcgacaatgg cagaactgcc cacaacagag acgcctgggg acgccacttt gtgcagcggg
61 cgcttcacca tcagcacact gctgagcagt gatgagccct ctccaccagc tgcctatgac
121 agcagccacc ccagccacct gacccacagc agcaccttct gcatgcgcac ctttggctac
181 aacacgatcg atgtggtgcc cacatatgag cactatgcca acagcaccca gcctggtgag
241 ccccggaagg tccggcccac actggctgac ctgcactcct tcctcaagca ggaaggcaga
301 cacctgcatg ccctggcctt tgacagccgg cccagccacg agatgactga tgggctggtg
361 gagggcgagg caggcaccag cagcgagaag aaccccgagg agccagtgcg cttcggctgg
421 gtcaaggggg tgatgattcg ttgcatgctc aacatttggg gcgtgatcct ctacctgcgg
481 ctgccctgga ttacggccca ggcaggcatc gtcctgacct ggatcatcat cctgctgtcg
541 gtcacggtga cctccatcac aggcctctcc atctcagcca tctccaccaa tggcaaggtc
601 aagtcaggtg gcacctactt cctcatctcc cggagtctgg gcccagagct tgggggctcc
661 atcggcctca ttttcgcttt cgccaatgcc gtgggtgtgg ccatgcacac ggtgggcttt
721 gcagagaccg tgcgggacct gctccaggag tatggggcac ccatcgtgga ccccattaac
781 gacatccgca tcattggcgt ggtctcggtc actgtgctgc tggccatctc cctggctggc
841 atggagtggg agtccaaggc ccaggtgctg ttcttccttg tcatcatggt ctcctttgcc
901 aactatttag tggggacgct gatcccccca tctgaggaca aggcctccaa gggcttcttc
961 agctaccggg cggacatttt tgtccagaac ttggtgcctg actggcgggg tccagatggc
1021 accttcttcg gaatgttctc catcttcttc ccctcggcca caggcatcct ggcaggggcc
1081 aacatatctg gtgacctcaa ggaccctgct atagccatcc ccaaggggac cctcatggcc
1141 attttctgga cgaccatttc ctacctggcc atctcagcca ccattggctc ctgcgtggtg
1201 cgtgatgcct ctggggtcct gaatgacaca gtgacccctg gctggggtgc ctgcgagggg
1261 ctggcctgca gctatggctg gaacttcacc gagtgcaccc agcagcacag ctgccactac
1321 ggcctcatca actattacca gaccatgagc atggtgtcag gcttcgcgcc cctgatcacg
1381 gctggcatct tcggggccac cctctcctct gccctggcct gccttgtctc tgctgccaaa
1441 gtcttccagt gcctttgcga ggaccagctg tacccactga tcggcttctt cggcaaaggc
1501 tatggcaaga acaaggagcc cgtgcgtggc tacctgctgg cctacgccat cgctgtggcc
1561 ttcatcatca tcgctgagct caacaccata gcccccatca tttccaactt cttcctctgc
1621 tcctatgccc tcatcaactt cagctgcttc cacgcctcca tcaccaactc gcctgggtgg
1681 agaccttcat tccaatacta caacaagtgg gcggcgctgt ttggggctat catctccgtg
1741 gtcatcatgt tcctcctcac ctggtgggcg gccctcatcg ccattggcgt ggtgctcttc
1801 ctcctgctct atgtcatcta caagaagcca gaggtaaatt ggggctcctc ggtacaggct
1861 ggctcctaca acctggccct cagctactcg gtgggcctca atgaggtgga agaccacatc
1921 aagaactacc gcccccagtg cctggtgctc acggggcccc ccaacttccg cccggccctg
1981 gtggactttg tgggcacctt cacccggaac ctcagcctga tgatctgtgg ccacgtgctc
2041 atcggacccc acaagcagag gatgcctgag ctccagctca tcgccaacgg gcacaccaag
2101 tggctgaaca agaggaagat caaggccttc tactcggatg tcattgccga ggacctccgc
2161 agaggcgtcc agatcctcat gcaggccgca ggtctcggga gaatgaagcc caacattctg
2221 gtggttgggt tcaagaagaa ctggcagtcg gctcacccgg ccacagtgga agactacatt
2281 ggcatcctcc atgatgcctt tgagttcaac tatggcgtgt gtgtcatgag gatgcgggag
2341 ggactcaacg tgtccaagat gatgcaggcg cacattaacc ccgtgtttga cccagcggag
2401 gacgggaagg aagccagcgc cagaggtgcc aggccatcag tctctggcgc tttggacccc
2461 aaggccctgg tgaaggagga gcaggccacc accatcttcc agtcggagca gggcaagaag
2521 accatagaca tctactggct ctttgacgat ggaggcctca ccctcctcat tccctatctc
2581 cttggccgca agaggaggtg gagcaaatgc aagatccgtg tgttcgtagg cggccagatt
2641 aacaggatgg accaggagag aaaggcgatc atttctctgc tgagcaagtt ccgactggga
2701 ttccatgaag tccacatcct ccctgacatc aaccagaacc ctcgggctga gcacaccaag
2761 aggtttgagg acatgattgc acccttccgt ctgaatgatg gcttcaagga tgaggccact
2821 gtcaacgaga tgcggcggga ctgcccctgg aagatctcag atgaggagat tacgaagaac
2881 agagtcaagt cccttcggca ggtgaggctg aatgagattg tgctggatta ctcccgagac
2941 gctgctctca tcgtcatcac tttgcccata gggaggaagg ggaagtgccc cagctcgctg
3001 tacatggcct ggctggagac cctgtcccag gacctcagac ctccagtcat cctgatccga
3061 ggaaaccagg aaaacgtgct caccttttac tgccagtaac tccaggcttt gacatccctg
3121 tccacagctc t
//