LOCUS X91220 4211 bp mRNA linear HUM 16-NOV-1998
DEFINITION H.sapiens mRNA for Na-Cl electroneutral thiazide-sensitive
cotransporter.
ACCESSION X91220
VERSION X91220.1
KEYWORDS Gitelman's syndrome; thiazide sensitive NaCl cotransporter; TSC
gene.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS MASTROIANNI N., De Fusco M., Zollo M., Arrigo G., Zuffardi O.,
BETTINELLI A., Ballabio A., Casari G.
TITLE Molecular cloning, expression pattern and chromosomal localization
of the human Na-Cl thiazide-sensitive cotransporter.
JOURNAL Genomics 35(3), 486-493(1996).
PUBMED 8812482
REFERENCE 2 (bases 1 to 4211)
AUTHORS Casari G.
JOURNAL Submitted (09-SEP-1995) to the INSDC. G. Casari, Tigem-Telethon
Inst of Genetics and Medicine, Gene Identification Unit, via
Olgettina 58, 20132 Milan, ITALY
FEATURES Location/Qualifiers
source 1..4211
/db_xref="H-InvDB:HIT000324450"
/organism="Homo sapiens"
/map="16q13"
/mol_type="mRNA"
/dev_stage="adult"
/clone_lib="Clontech HL1123n"
/clone="23.1"
/clone="2.1"
/tissue_type="kidney"
/note="nucleotides 1-66 derived from human genomic library
Clontech 946204"
/db_xref="taxon:9606"
CDS 26..3091
/gene="TSC"
/product="NaCl electroneutral Thiazide-sensitive
cotransporter"
/db_xref="GOA:P55017"
/db_xref="H-InvDB:HIT000324450.15"
/db_xref="HGNC:HGNC:10912"
/db_xref="InterPro:IPR002948"
/db_xref="InterPro:IPR004841"
/db_xref="InterPro:IPR004842"
/db_xref="InterPro:IPR013612"
/db_xref="InterPro:IPR018491"
/db_xref="UniProtKB/Swiss-Prot:P55017"
/protein_id="CAA62613.1"
/translation="MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSH
LTHSSTFCMRTFGYNTIDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHA
LAFDSRPSHEMTDGLVEGEAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLP
WITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGS
IGLIFAFANAVGVAMHTVGFAETVRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISL
AGMEWESKAQVLFFLVIMVSFANYLVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWR
GPDGTFFGMFSIFFPSATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISAT
IGSCVVRDASGVLNDTVTPGWGACEGLACSYGWNFTECTQQHSCHYGLINYYQTMSMV
SGFAPLITVVIFGATLSSALACLVSAAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRG
YLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITNSPGWRPSFQYYN
KWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLA
LSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVDFVGTFTRNLSLMICGHVLIGPH
KQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMKPNILVV
GFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGLNVSKMMQAHINPVFDPAE
DGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDGGLTLLIPYLLGRKRRW
SKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDINQNPRAEHTKRFEDM
IAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLNEIVLDYSRDAAL
IVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ"
regulatory 4158..4164
/regulatory_class="polyA_signal_sequence"
BASE COUNT 904 a 1244 c 1082 g 981 t
ORIGIN
1 cccctccctg gacacccagg cgacaatggc agaactgccc acaacagaga cgcctgggga
61 cgccactttg tgcagcgggc gcttcaccat cagcacactg ctgagcagtg atgagccctc
121 tccaccagct gcctatgaca gcagccaccc cagccacctg acccacagca gcaccttctg
181 catgcgcacc tttggctata acacgatcga tgtggtgccc acatatgagc actatgccaa
241 cagcacccag cctggtgagc cccggaaggt ccggcccaca ctggctgacc tgcactcctt
301 cctcaagcag gaaggcagac acctgcatgc cctggccttt gacagccggc ccagccacga
361 gatgactgat gggctggtgg agggcgaggc aggcaccagc agcgagaaga accccgagga
421 gccagtgcgc ttcggctggg tcaagggggt gatgattcgt tgcatgctca acatttgggg
481 cgtgatcctc tacctgcggc tgccctggat tacggcccag gcaggcatcg tcctgacctg
541 gatcatcatc ctgctgtcgg tcacggtgac ctccatcaca ggcctctcca tctcagccat
601 ctccaccaat ggcaaggtca agtcaggtgg cacctacttc ctcatctccc ggagtctggg
661 cccagagctt gggggctcca tcggcctcat tttcgctttc gccaatgccg tgggtgtggc
721 catgcacacg gtgggctttg cagagaccgt gcgggacctg ctccaggagt atggggcacc
781 catcgtggac cccattaacg acatccgcat cattggcgtg gtctcggtca ctgtgctgct
841 ggccatctcc ctggctggca tggagtggga gtccaaggcc caggtgctgt tcttccttgt
901 catcatggtc tcctttgcca actatttagt ggggacgctg atccccccat ctgaggacaa
961 ggcctccaaa ggcttcttca gctaccgggc ggacattttt gtccagaact tggtgcctga
1021 ctggcggggt ccagatggca ccttcttcgg aatgttctcc atcttcttcc cctcggccac
1081 aggcatcctg gcaggggcca acatatctgg tgacctcaag gaccctgcta tagccatccc
1141 caaggggacc ctcatggcca ttttctggac gaccatttcc tacctggcca tctcagccac
1201 cattggctcc tgcgtggtgc gtgatgcctc tggggtcctg aatgacacag tgacccctgg
1261 ctggggtgcc tgcgaggggc tggcctgcag ctatggctgg aacttcaccg agtgcaccca
1321 gcagcacagc tgccactacg gcctcatcaa ctattaccag accatgagca tggtgtcagg
1381 cttcgcgccc ctgatcacgg tggtcatctt cggggccacc ctctcctctg ccctggcctg
1441 ccttgtctct gctgccaaag tcttccagtg cctttgcgag gaccagctgt acccactgat
1501 cggcttcttc ggcaaaggct atggcaagaa caaggagccc gtgcgtggct acctgctggc
1561 ctacgccatc gctgtggcct tcatcatcat cgctgagctc aacaccatag cccccatcat
1621 ttccaacttc ttcctctgct cctatgccct catcaacttc agctgcttcc acgcctccat
1681 caccaactcg cctgggtgga gaccttcatt ccaatactac aacaagtggg cggcgctgtt
1741 tggggctatc atctccgtgg tcatcatgtt cctcctcacc tggtgggcgg ccctcatcgc
1801 cattggcgtg gtgctcttcc tcctgctcta tgtcatctac aagaagccag aggtaaattg
1861 gggctcctcg gtacaggctg gctcctacaa cctggccctc agctactcgg tgggcctcaa
1921 tgaggtggaa gaccacatca agaactatcg cccccagtgc ctggtgctca cggggccccc
1981 caacttccgc ccggccctgg tggactttgt gggcaccttc acccggaacc tcagcctgat
2041 gatctgtggc cacgtgctca tcggacccca caagcagagg atgcctgagc tccagctcat
2101 cgccaacggg cacaccaagt ggctgaacaa gaggaagatc aaggccttct actcggatgt
2161 cattgccgag gacctccgca gaggcgtcca gatcctcatg caggccgcag gtctcgggag
2221 aatgaagccc aacattctgg tggttgggtt caagaagaac tggcagtcgg ctcacccggc
2281 cacagtggaa gactacattg gcatcctcca tgatgccttt gatttcaact atggcgtgtg
2341 tgtcatgagg atgcgggagg gactcaacgt gtccaagatg atgcaggcgc acattaaccc
2401 cgtgtttgac ccagcggagg acgggaagga agccagcgcc agagtggacc ccaaggccct
2461 ggtgaaggag gagcaggcca ccaccatctt ccagtcggag cagggcaaga agaccataga
2521 catctactgg ctctttgacg atggaggcct caccctcctc attccctatc tccttggccg
2581 caagaggagg tggagcaaat gcaagatccg tgtgttcgta ggcggccaga ttaacaggat
2641 ggaccaggag agaaaggcga tcatttctct gctgagcaag ttccgactgg gattccatga
2701 agtccacatc ctccctgaca tcaaccagaa ccctcgggct gagcacacca agaggtttga
2761 ggacatgatt gcacccttcc gtctgaatga tggcttcaag gatgaggcca ctgtcaacga
2821 gatgcggcgg gactgcccct ggaagatctc agatgaggag attacgaaga acagagtcaa
2881 gtcccttcgg caggtgaggc tgaatgagat tgtgctggat tactcccgag acgctgctct
2941 catcgtcatc actttgccca tagggaggaa ggggaagtgc cccagctcgc tgtacatggc
3001 ctggctggag accctgtccc aggacctcag acctccagtc atcctgatcc gaggaaacca
3061 ggaaaacgtg ctcacctttt actgccagta actccaggct ttgacatccc tgtccacagc
3121 tctgagtgtg tgggataagt tggaacttga ttgcctctag tccacaggga tgagactcat
3181 gttctgttgc actttaagtg gcagcatctg atgatctcac ccgaaaaaga tggtagattt
3241 ccaaatctgg ctggactcca cttccatggg acacattccc tgggtcttgt gtttatgggc
3301 tagagaaata gcagatggag ctgcaaggaa aactctctaa agcatcctat tccttttaaa
3361 ggatttcttt tgattttgat gaccattaat taagagttca gtctttgatt tgtatgcaaa
3421 ttggagtccc aatgctgggc gtgaatcttg acagtttcta cagaccttcc tgggtgaaag
3481 ttcctaaatc atgccttgct tcctccaata ggagaatggg agcctcacct gtaggaccta
3541 caggctctct aaggaatgca ggtctctctc tgagcctcca cagccaggca aatacatata
3601 tatatatttt tttttagatg aagttttttc tcttgttgcc caggctaggg tgtaatggca
3661 tgatctcagg tcactgcaac ctcctcccgg gttcaagcat ttcttctgtc tcagcctccc
3721 gaatagctgg gattacaggc acctgccatc acaccagcta atttttgtat ttttagtaga
3781 gatggggttt caccatgttg accaggctgg tgttgagctc ctgacctcag gtgatccacc
3841 cacctcggtc tcccaaagtg ctggggttac aggcctgagc cactgcgccc ggcccaggca
3901 aatttcttga accacttctc actcccgtca ctttcaataa ggggtctttg atgtcttcac
3961 tggttctttg gacgagggac ttttcgaact tttttggttg caacacacag taagaaatat
4021 atttcacact gagacttgca gcgcacacac acggaaacga ccaaaacaaa aatgtcacaa
4081 aacaatactt acccttccct gggggacgtc ctccagtatg ttctgttctg tttatttttc
4141 actgttggtt gcaatccaat aaaatgactt tgggatccac tcatgggtgg ggacccacac
4201 atttgaaacc g
//