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
//