LOCUS Z25884 3093 bp mRNA linear HUM 14-NOV-2006
DEFINITION H.sapiens mRNA for ClC-1 muscle chloride channel protein.
ACCESSION Z25884
VERSION Z25884.1
KEYWORDS chloride channel protein.
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 3093)
AUTHORS Steinmeyer K., Lorenz C., Pusch M., Koch M.C., Jentsch T.J.
TITLE Multimeric structure of ClC-1 chloride channel revealed by
mutations in dominant myotonia congenita (Thomsen)
JOURNAL EMBO J. 13(4), 737-743(1994).
PUBMED 8112288
REFERENCE 2 (bases 1 to 3093)
AUTHORS Jentsch T.J.
JOURNAL Submitted (03-SEP-1993) to the INSDC. Thomas J Jentsch, Centre for
Molecular Neurobiology, ZMNH, Hamburg University, Martinistr. 52,
Hamburg, D-20246, Germany
REFERENCE 3
AUTHORS Lorenz C., Meyer-Kleine C., Steinmeyer K., Koch M.C., Jentsch T.J.
TITLE Genomic organization of the human muscle chloride channel CIC-1 and
analysis of novel mutations leading to Becker-type myotonia
JOURNAL Hum. Mol. Genet. 3(6), 941-946(1994).
PUBMED 7951242
FEATURES Location/Qualifiers
source 1..3093
/db_xref="H-InvDB:HIT000326722"
/organism="Homo sapiens"
/chromosome="7/q"
/mol_type="mRNA"
/clone_lib="Stratagene Lambda FixII genomic library
#946203"
/tissue_type="Caucasian male fetus placenta"
/db_xref="taxon:9606"
5'UTR 1..87
/partial
/note="sequence is derived from a genomic clone; shows
sequence homology to the rat ClC-1 5`UTR region (GenBank #
X62894)"
CDS 88..3054
/product="human ClC-1 muscle chloride channel"
/note="88..596 is derived from a genomic clone; 597..3054
is identical to partial human ClC-1 cDNA clone (GenBank
M97820)"
/db_xref="GOA:P35523"
/db_xref="H-InvDB:HIT000326722.14"
/db_xref="HGNC:HGNC:2019"
/db_xref="InterPro:IPR000644"
/db_xref="InterPro:IPR001807"
/db_xref="InterPro:IPR002243"
/db_xref="InterPro:IPR014743"
/db_xref="PDB:6COY"
/db_xref="PDB:6COZ"
/db_xref="PDB:6QV6"
/db_xref="PDB:6QVB"
/db_xref="PDB:6QVC"
/db_xref="PDB:6QVD"
/db_xref="PDB:6QVU"
/db_xref="UniProtKB/Swiss-Prot:P35523"
/protein_id="CAA81103.1"
/translation="MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQH
RLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDC
IHRLGQVVRRKLGEDWIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQ
FLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVA
LTAGLGSGIPVGKEGPFVHIASICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVG
CCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFR
TNFRMDFPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLL
YPGIVTFVIASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWI
HPRVNVVIIIFLFFVMKFWMSIVATTMPIPCGGFMPVFVLGAAFGRLVGEIMAMLFPD
GILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMMVAVILA
NMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGE
LRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLS
ELPYDGKARLAGEGPPGAPPGRPESFAFVDEDEDEDLSGKSELPPSLALHPSTTAPLS
PEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMS
PEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGK
LRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAPPSSAENWNLPEDRP
GATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESPGLEEELADILQG
PSLRSTDEEDEDELIL"
3'UTR 3055..3093
/partial
/note="sequence is identical to a partial human ClC-1 cDNA
clone (GenBank M97820)"
BASE COUNT 656 a 884 c 853 g 700 t
ORIGIN
1 agcaagagca gaggcttaag gagctacact gggggaagga caggggcaag caggccaagg
61 cctggccggg gctcgggggg agggaatatg gagcaatccc ggtcacagca gcgtgggggt
121 gaacaaagct ggtggggtag tgacccccag taccagtata tgccctttga acactgcacc
181 agctacggac tgccctctga gaatgggggc ctccagcaca ggctccggaa ggatgcaggc
241 ccccgccaca acgtccaccc cacacagatt tatggccatc acaaagaaca attctcagac
301 agggagcagg acatagggat gcccaagaag acaggctcca gttctaccgt ggacagcaag
361 gatgaggatc actattctaa atgtcaagat tgtatccacc gcctgggaca ggtggtgaga
421 agaaaattag gggaagactg gatctttctg gtgcttctgg gactgctgat ggctctggtc
481 agctggagca tggactacgt cagtgccaaa agccttcagg cctacaagtg gtcctacgcg
541 cagatgcagc ccagccttcc tctgcagttc ctggtctggg tcaccttccc actagtcctc
601 atcctcttca gcgccctctt ctgccacctc atctctcccc aggctgttgg ctctggaatc
661 cccgaaatga agacaatact tcgtggggtt gtcctgaagg aatacctcac aatgaaagcc
721 tttgtggcca aggttgtcgc cctgactgcg ggcctgggca gtggcatccc cgtggggaaa
781 gagggcccct tcgtccacat tgccagcatc tgtgctgctg tcctcagcaa attcatgtct
841 gtgttctgcg gggtatatga gcagccatac tactactctg atatcctgac ggtgggctgt
901 gctgtgggag tcggctgttg ttttgggaca ccacttggag gagtgctatt tagcatcgag
961 gtcacctcca cctactttgc tgttcggaac tactggagag gattctttgc agccacgttc
1021 agcgcctttg tgtttcgagt gctggcagtg tggaacaagg atgctgtcac catcactgct
1081 ctgttcagaa ccaatttccg aatggatttc ccctttgacc tgaaggaact accagctttt
1141 gctgccatcg ggatttgctg tgggctcctg ggagctgtat ttgtgtatct gcatcgccaa
1201 gtcatgctcg gtgtccgaaa gcacaaggcc ctcagccagt ttcttgctaa gcaccgcctg
1261 ctgtatcctg gaattgttac ctttgtcatt gcctcattca ccttcccacc aggaatgggt
1321 caattcatgg ctggagagtt gatgccccgc gaagccatca gtactttgtt tgacaacaat
1381 acatgggtga aacacgcggg tgatcctgag agcctgggcc agtcagctgt gtggattcac
1441 ccccgggtca acgttgtcat catcatcttt ctcttcttcg tcatgaagtt ctggatgtcc
1501 atcgtggcca ccactatgcc cataccctgc ggaggcttca tgcctgtgtt tgtgctagga
1561 gctgcatttg gaaggctggt aggagaaatc atggccatgc tctttcctga tggtattttg
1621 tttgatgaca tcatctacaa gatcctacct gggggctatg cagtaattgg agcagcagcg
1681 ctgactggtg ccgtttccca cacagtctcc acagctgtga tttgcttcga attaacgggt
1741 cagattgctc acatcctgcc catgatggtg gctgttatct tggccaacat ggtggcccag
1801 agcctgcagc cctctctcta tgacagcatc atccaggtca agaagctacc ctacttgcct
1861 gaccttggct ggaaccagct cagcaaatat accatctttg ttgaggacat catggtacgt
1921 gatgtgaagt ttgtttcagc ttcttacaca tatggggagt tgcgaaccct gctccagacc
1981 accacagtca agactttacc actggttgac tcaaaagatt caatgatcct gctgggctcg
2041 gtggagcggt cggaactgca ggccctcctg cagcgccacc tgtgtcctga gcgcaggctg
2101 cgcgcagccc aagagatggc gcggaagttg tcggagctgc cttacgacgg gaaggcgcgg
2161 ctggctgggg aggggccccc cggcgcgcct ccaggccggc ccgagtcctt cgcctttgtg
2221 gatgaggatg aggacgaaga tctctctggc aagagcgagc ttcctccttc ccttgctctc
2281 cacccctcta ctactgcccc tctgtcccca gaagagccca atgggcctct gcctggccac
2341 aaacagcagc cggaagcacc agagcctgca ggtcaaagac cctccatctt ccagtccctg
2401 cttcactgct tgctgggcag agctcgcccc acaaagaaga aaacaaccca ggattccaca
2461 gatttagtgg ataacatgtc acctgaagag attgaggcct gggagcagga gcagctgagc
2521 cagcctgtct gttttgattc ctgctgtatt gaccagtctc ccttccagct ggtggagcag
2581 acaaccctgc acaagactca taccctgttt tcactccttg gcctccacct cgcttacgtg
2641 accagcatgg ggaagctcag gggcgtcctg gccctggagg agctacagaa ggccattgag
2701 gggcacacca agtctggggt gcagctccgc cctccccttg ccagcttccg gaacacgact
2761 tcaactcgaa agagtaccgg ggcacctcca tcttctgcag agaactggaa cctgcctgag
2821 gacaggcctg gggccactgg aacaggggat gtgattgctg cctccccaga gacccctgtg
2881 ccatctcctt ccccagagcc ccctctctcc ctggccccag gcaaggtaga gggcgagttg
2941 gaggagctgg agctggtgga gagtccaggg ctggaagagg agctggccga catcttgcag
3001 ggccccagcc tgcgatccac agacgaggag gatgaggatg aactgatcct ttgaccccct
3061 cccacgacct cctcataaag accgtggaga ggc
//