LOCUS X91906 3173 bp mRNA linear HUM 07-OCT-2008 DEFINITION H.sapiens voltage-gated chloride ion channel CLCN5. ACCESSION X91906 VERSION X91906.1 KEYWORDS CLCN5 gene; voltage-gated chloride channel. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Fisher S.E., van Bakel I., Lloyd S.E., Pearce S.H.S., Thakker R.V., Craig I.W. TITLE Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis) JOURNAL Genomics 29(3), 598-606(1995). PUBMED 8575751 REFERENCE 2 (bases 1 to 3173) AUTHORS Craig I.W. JOURNAL Submitted (30-AUG-1995) to the INSDC. I.W. Craig, University of Oxford, Genetics Laboratory, Dept.of Biochemistry, South Parks Road, Oxford OX1 3QU, UK REFERENCE 3 AUTHORS Lloyd S.E., Pearce S.H.S., Fisher S.E., Steinmeyer K., Schwappach B., Scheinman S.J., Harding B., Bolino A., Devoto M., Goodyer P., Rigden S.P.A., Wrong O., Jentsch T.J., Craig I.W., Thakker R.V. TITLE A common molecular basis for three inherited kidney stone diseases JOURNAL Nature 379(6564), 445-449(1996). PUBMED 8559248 COMMENT Related sequences X81836 and Z56277 FEATURES Location/Qualifiers source 1..3173 /db_xref="H-InvDB:HIT000324475" /organism="Homo sapiens" /chromosome="X" /map="p11.22" /mol_type="mRNA" /clone_lib="Clontech adult renal tissue library" /clone="RL.3, RL.6, RL.7, RL.8" /tissue_type="kidney" /db_xref="taxon:9606" CDS 292..2532 /gene="CLCN5" /product="voltage-gated chloride ion channel" /db_xref="GOA:P51795" /db_xref="H-InvDB:HIT000324475.14" /db_xref="HGNC:HGNC:2023" /db_xref="InterPro:IPR000644" /db_xref="InterPro:IPR001807" /db_xref="InterPro:IPR002247" /db_xref="InterPro:IPR014743" /db_xref="PDB:2J9L" /db_xref="PDB:2JA3" /db_xref="UniProtKB/Swiss-Prot:P51795" /protein_id="CAA63000.1" /translation="MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKEST WALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCC WNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKV FAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVA CCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLK TLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGA LFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDC GLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKI PSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAA ACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNG YPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVV SRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNI LDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDP DSILFN" BASE COUNT 811 a 682 c 732 g 948 t ORIGIN 1 tgatgtgata tggctgcaag tgcctttgac ccttttgtct cccttccata aactgaaata 61 cctaagctgc tccaacctcc tttttgtctt ttgtttcata aatcctttcc cattgcacat 121 caactcctgt ctctctttgt actgtcactc tcatctgttg ctttccattc acactgcctt 181 tagccactca tcattttgtg cctacaccac agaaacctct gaatgtaatg gatgttccta 241 ccagaggaca agtcgtacaa tggtggagga ataggttctt caaataggat catggacttc 301 ttggaggagc caatccctgg tgtagggacc tatgatgatt tcaatacaat tgattgggtg 361 agagagaagt ctcgagaccg ggataggcac cgagagatta ccaataaaag caaagagtca 421 acatgggcct taattcacag tgtgagtgat gctttttccg gctggttgtt gatgctcctt 481 attgggcttt tatcaggttc gttagctggt ttgatagaca tctctgctca ttggatgaca 541 gacttaaaag aaggtatatg cacaggggga ttctggttta accatgaaca ttgttgctgg 601 aactctgagc atgtcacctt tgaagagaga gacaaatgtc cagagtggaa tagttggtcc 661 cagcttatca tcagcacaga tgagggagcc tttgcctaca tagtcaatta tttcatgtac 721 gtcctctggg ctctcctatt tgccttcctt gccgtatctc ttgtcaaggt gtttgcgcct 781 tatgcctgtg gctctggaat ccctgagata aaaactatct tgagtggttt cattattagg 841 ggctatttgg gtaagtggac tctggttatc aaaaccatca ccttggtgct ggcagtgtcg 901 tctggcttga gcctgggcaa agagggccct ctagtgcacg tggcttgctg ctgtgggaac 961 atcctgtgcc actgcttcaa caaatacagg aagaatgaag ccaagcgcag agaggtcttg 1021 tcggctgcag cagcagctgg tgtatctgta gcctttggag cacctatagg tggagtatta 1081 ttcagccttg aagaggtcag ctactatttt cccctcaaaa cattgtggcg ttcattcttt 1141 gctgccttgg tggcagcatt cactctacgc tccatcaatc catttgggaa cagccgcctg 1201 gtactatttt atgtggagtt tcacacccca tggcatctct ttgagctcgt gccattcatt 1261 ctgctgggca tatttggtgg tctgtgggga gcactgttta tccgcacaaa cattgcctgg 1321 tgtcggaagc gaaagaccac ccagttgggc aagtatcctg ttatagaggt actcgtcgtg 1381 acagccatca ctgccatcct ggctttcccc aatgaataca ctcggatgag cacaagtgag 1441 ctcatttctg agctgtttaa tgactgtggc cttctggact cctccaagct ctgtgattat 1501 gagaaccgtt tcaacacaag caaagggggt gaactgcctg acagaccggc tggcgtggga 1561 gtctacagtg caatgtggca gctggcttta acactcatac tgaaaattgt cattactata 1621 ttcacctttg gcatgaagat cccttctggc ctctttatcc ctagcatggc tgttggtgct 1681 atagcaggtc gacttctagg agtaggaatg gaacagctgg cttattacca ccaggaatgg 1741 accgtcttca atagctggtg tagtcaggga gctgattgca tcacccccgg cctttatgca 1801 atggttgggg ctgcagcctg cttaggtggg gtgactcgga tgactgtttc tcttgttgtc 1861 ataatgtttg aactgactgg tggcttagaa tacatcgtgc ctctgatggc tgcagccatg 1921 acaagcaagt gggtggcaga tgctcttggg cgggagggca tctatgatgc ccacatccgt 1981 ctcaatggat acccctttct tgaagccaaa gaagagtttg ctcataagac cctggcaatg 2041 gatgtgatga aaccccggag aaatgatcct ttgttgactg tccttactca ggacagtatg 2101 actgtggaag atgtagagac cataatcagt gaaaccactt acagtggctt cccagtggtg 2161 gtatcccggg agtcccaaag acttgtgggc tttgtcctcc gaagagatct cattatttca 2221 attgaaaatg ctcgaaagaa acaggatggg gttgttagca cttccatcat ttatttcacg 2281 gagcattctc ctccattgcc accatacact ccacccactc taaagcttcg gaacatcctc 2341 gatctcagcc ccttcactgt gactgacctt acacccatgg agatcgtagt ggatattttc 2401 cgaaagctgg gactgcggca gtgcctggtt acacacaacg ggcgattgct tggaatcatt 2461 accaaaaagg atgtgttaaa gcatatagca cagatggcga accaagatcc tgattccatt 2521 ctcttcaact agaatcatag agttctggat gtaaagcggg aaggacatta cagaccatgg 2581 atatgttgtt taacggtacc caaaacacat tttccatatt tggatggtga agtcacatta 2641 gtgtgttgtc tctttcctac aagttaacca gttgcactac ataatctctg gaaattaatt 2701 ttctctttag gagaaattat agttaggctt ccatgatgtt acattaggaa gatatcatga 2761 aagaataaat aagattgcta tggtttaatt atatttgctt tttaaaagat ttttttaact 2821 taaaaagtag ttagccaata tgcaatcact gaaaactatg caagagaaat tccaaccgtc 2881 ctgacctata acctgtagga aaccgacgaa aaagtcactc ttttgggatc taactgttgt 2941 tactggaaga cgaaggtaaa ctaaggggct ttgcttttca aaccagagaa aggaaagcca 3001 gaaggaaaag agtaatggta ttttctagac tgtgaagatt cagttcaaat gttatccttg 3061 ttcctgttac aatatttagc attattagtt tgttatgtgt gtatgtttat gttaatttta 3121 atttctgatt ataagacaat gctgctttgg ttaatctctt ctaaaggaat tta //