LOCUS       NM_000083               3187 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens chloride voltage-gated channel 1 (CLCN1), transcript
            variant 1, mRNA.
ACCESSION   NM_000083
VERSION     NM_000083.3
KEYWORDS    RefSeq; MANE Select.
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 3187)
  AUTHORS   He,Y., Qiu,Y., Xiong,Y., Shen,Y., Jiang,K., Yi,H., Huang,P.,
            Zhu,Y., Zhu,M., Zhou,M., Hong,D. and Tan,D.
  TITLE     Clinical and genetic characteristics of myotonia congenita in
            Chinese population
  JOURNAL   Channels (Austin) 18 (1), 2349823 (2024)
   PUBMED   38720415
  REMARK    GeneRIF: Clinical and genetic characteristics of myotonia congenita
            in Chinese population.
REFERENCE   2  (bases 1 to 3187)
  AUTHORS   Nakamura,Y., Sato,H., Kakiuchi,K., Miyano,Y., Hosokawa,T. and
            Arawaka,S.
  TITLE     [A pedigree of myotonia congenita with a novel mutation p.F343C of
            the CLCN1 gene]
  JOURNAL   Rinsho Shinkeigaku 64 (5), 344-348 (2024)
   PUBMED   38644209
  REMARK    GeneRIF: [A pedigree of myotonia congenita with a novel mutation
            p.F343C of the CLCN1 gene].
REFERENCE   3  (bases 1 to 3187)
  AUTHORS   Vacchiano,V., Brugnoni,R., Campanale,C., Imbrici,P., Dinoi,G.,
            Canioni,E., Laghetti,P., Saltarella,I., Altamura,C., Maggi,L.,
            Liguori,R., Donadio,V. and Desaphy,J.F.
  TITLE     Coexistence of SCN4A and CLCN1 mutations in a family with atypical
            myotonic features: A clinical and functional study
  JOURNAL   Exp Neurol 362, 114342 (2023)
   PUBMED   36720299
  REMARK    GeneRIF: Coexistence of SCN4A and CLCN1 mutations in a family with
            atypical myotonic features: A clinical and functional study.
REFERENCE   4  (bases 1 to 3187)
  AUTHORS   Meng,Y.X., Yu,M., Liu,C., Zhang,H., Yang,Y. and Zhang,J.
  TITLE     Sequence CLCN1 and SCN4A genes in patients with nondystrophic
            myotonia in Chinese people
  JOURNAL   Medicine (Baltimore) 101 (29), e29591 (2022)
   PUBMED   35866763
  REMARK    GeneRIF: Sequence CLCN1 and SCN4A genes in patients with
            nondystrophic myotonia in Chinese people.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3187)
  AUTHORS   Liang,H., Li,N., Yao,R.E., Yu,T., Ding,L., Chen,J. and Wang,J.
  TITLE     Clinical and molecular characterization of five Chinese patients
            with autosomal recessive osteopetrosis
  JOURNAL   Mol Genet Genomic Med 9 (11), e1815 (2021)
   PUBMED   34545712
  REMARK    GeneRIF: Clinical and molecular characterization of five Chinese
            patients with autosomal recessive osteopetrosis.
REFERENCE   6  (bases 1 to 3187)
  AUTHORS   Lehmann-Horn,F., Mailander,V., Heine,R. and George,A.L.
  TITLE     Myotonia levior is a chloride channel disorder
  JOURNAL   Hum Mol Genet 4 (8), 1397-1402 (1995)
   PUBMED   7581380
REFERENCE   7  (bases 1 to 3187)
  AUTHORS   Hudson,A.J., Ebers,G.C. and Bulman,D.E.
  TITLE     The skeletal muscle sodium and chloride channel diseases
  JOURNAL   Brain 118 (Pt 2), 547-563 (1995)
   PUBMED   7735894
  REMARK    Review article
REFERENCE   8  (bases 1 to 3187)
  AUTHORS   Duno,M. and Vissing,J.
  TITLE     Myotonia Congenita
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301529
REFERENCE   9  (bases 1 to 3187)
  AUTHORS   Koch,M.C., Steinmeyer,K., Lorenz,C., Ricker,K., Wolf,F., Otto,M.,
            Zoll,B., Lehmann-Horn,F., Grzeschik,K.H. and Jentsch,T.J.
  TITLE     The skeletal muscle chloride channel in dominant and recessive
            human myotonia
  JOURNAL   Science 257 (5071), 797-800 (1992)
   PUBMED   1379744
REFERENCE   10 (bases 1 to 3187)
  AUTHORS   Isobe,M., Erikson,J., Emanuel,B.S., Nowell,P.C. and Croce,C.M.
  TITLE     Location of gene for beta subunit of human T-cell receptor at band
            7q35, a region prone to rearrangements in T cells
  JOURNAL   Science 228 (4699), 580-582 (1985)
   PUBMED   3983641
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073342.3 and AC093673.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000083.2.
            
            Summary: The CLCN family of voltage-dependent chloride channel
            genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate
            quite diverse functional characteristics while sharing significant
            sequence homology. The protein encoded by this gene regulates the
            electric excitability of the skeletal muscle membrane. Mutations in
            this gene cause two forms of inherited human muscle disorders:
            recessive generalized myotonia congenita (Becker) and dominant
            myotonia (Thomsen). Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z25884.1, BC113495.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMN03465413
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343257.7/ ENSP00000339867.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-282               AC073342.3         132793-133074
            283-403             AC073342.3         136437-136557
            404-535             AC073342.3         137346-137477
            536-664             AC073342.3         138047-138175
            665-798             AC073342.3         138397-138530
            799-876             AC073342.3         139991-140068
            877-955             AC073342.3         141096-141174
            956-1081            AC073342.3         147454-147579
            1082-1166           AC073342.3         147914-147998
            1167-1268           AC073342.3         148233-148334
            1269-1353           AC073342.3         149101-149185
            1354-1503           AC073342.3         149406-149555
            1504-1573           AC073342.3         155935-156004
            1574-1684           AC073342.3         156193-156303
            1685-1898           AC073342.3         158611-158824
            1899-2032           AC073342.3         159054-159187
            2033-2274           AC073342.3         162203-162444
            2275-2386           AC073342.3         162822-162933
            2387-2466           AC073342.3         163261-163340
            2467-2505           AC073342.3         163593-163631
            2506-2610           AC093673.4         1185-1289
            2611-2697           AC093673.4         1381-1467
            2698-3187           AC093673.4         2407-2896
FEATURES             Location/Qualifiers
     source          1..3187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..3187
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="chloride voltage-gated channel 1"
                     /db_xref="GeneID:1180"
                     /db_xref="HGNC:HGNC:2019"
                     /db_xref="MIM:118425"
     exon            1..282
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            283..403
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            404..535
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            536..664
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            665..798
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            799..876
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            877..955
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1081
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1166
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1268
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1353
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1503
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1573
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1684
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1898
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2032
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2033..2274
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2275..2386
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2387..2466
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2467..2505
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2506..2610
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2611..2697
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2698..3187
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3089..3094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="hexamer: CATAAA"
     polyA_site      3111
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="major polyA site"
ORIGIN      
        1 agacgccttg gggacagcaa gagcagaggc ttaaggagct acactggggg aaggacaggg
       61 gcaagcaggc caaggcctgg ccggggctcg gggggaggga atatggagca atcccggtca
      121 cagcagcgtg ggggtgaaca aagctggtgg ggtagtgacc cccagtacca gtatatgccc
      181 tttgaacact gcaccagcta cggactgccc tctgagaatg ggggcctcca gcacaggctc
      241 cggaaggatg caggcccccg ccacaacgtc caccccacac agatttatgg ccatcacaaa
      301 gaacaattct cagacaggga gcaggacata gggatgccca agaagacagg ctccagttct
      361 accgtggaca gcaaggatga ggatcactat tctaaatgtc aagattgtat ccaccgcctg
      421 ggacaggtgg tgagaagaaa attaggggaa gacgggatct ttctggtgct tctgggactg
      481 ctgatggctc tggtcagctg gagcatggac tacgtcagtg ccaaaagcct tcaggcctac
      541 aagtggtcct acgcgcagat gcagcccagc cttcctctgc agttcctggt ctgggtcacc
      601 ttcccactag tcctcatcct cttcagcgcc ctcttctgcc acctcatctc tccccaggct
      661 gttggctctg gaatccccga aatgaagaca atacttcgtg gggttgtcct gaaggaatac
      721 ctcacaatga aagcctttgt ggccaaggtt gtcgccctga ctgcgggcct gggcagtggc
      781 atccccgtgg ggaaagaggg ccccttcgtc cacattgcca gcatctgtgc tgctgtcctc
      841 agcaaattca tgtctgtgtt ctgcggggta tatgagcagc catactacta ctctgatatc
      901 ctgacggtgg gctgtgctgt gggagtcggc tgttgttttg ggacaccact tggaggagtg
      961 ctatttagca tcgaggtcac ctccacctac tttgctgttc ggaactactg gagaggattc
     1021 tttgcagcca cgttcagcgc ctttgtgttt cgagtgctgg cagtgtggaa caaggatgct
     1081 gtcaccatca ctgctctgtt cagaaccaat ttccgaatgg atttcccctt tgacctgaag
     1141 gaactaccag cttttgctgc catcgggatt tgctgtgggc tcctgggagc tgtatttgtg
     1201 tatctgcatc gccaagtcat gctcggtgtc cgaaagcaca aggccctcag ccagtttctt
     1261 gctaagcacc gcctgctgta tcctggaatt gttacctttg tcattgcctc attcaccttc
     1321 ccaccaggaa tgggtcaatt catggctgga gagttgatgc cccgcgaagc catcagtact
     1381 ttgtttgaca acaatacatg ggtgaaacac gcgggtgatc ctgagagcct gggccagtca
     1441 gctgtgtgga ttcacccccg ggtcaacgtt gtcatcatca tctttctctt cttcgtcatg
     1501 aagttctgga tgtccatcgt ggccaccact atgcccatac cctgcggagg cttcatgcct
     1561 gtgtttgtgc taggagctgc atttggaagg ctggtaggag aaatcatggc catgctcttt
     1621 cctgatggta ttttgtttga tgacatcatc tacaagatcc tacctggggg ctatgcagta
     1681 attggagcag cagcgctgac tggtgccgtt tcccacacag tctccacagc tgtgatttgc
     1741 ttcgaattaa cgggtcagat tgctcacatc ctgcccatga tggtggctgt tatcttggcc
     1801 aacatggtgg cccagagcct gcagccctct ctctatgaca gcatcatcca ggtcaagaag
     1861 ctaccctact tgcctgacct tggctggaac cagctcagca aatataccat ctttgttgag
     1921 gacatcatgg tacgtgatgt gaagtttgtt tcagcttctt acacatatgg ggagttgcga
     1981 accctgctcc agaccaccac agtcaagact ttaccactgg ttgactcaaa agattcaatg
     2041 atcctgctgg gctcggtgga gcggtcggaa ctgcaggccc tcctgcagcg ccacctgtgt
     2101 cctgagcgca ggctgcgcgc agcccaagag atggcgcgga agttgtcgga gctgccttac
     2161 gacgggaagg cgcggctggc tggggagggg ctccccggcg cgcctccagg ccggcccgag
     2221 tccttcgcct ttgtggatga ggatgaggac gaagacctct ctggcaagag cgagcttcct
     2281 ccttcccttg ctctccaccc ctctactact gcccctctgt ccccagaaga gcccaatggg
     2341 cctctgcctg gccacaaaca gcagccggaa gcaccagagc ctgcaggtca aagaccctcc
     2401 atcttccagt ccctgcttca ctgcttgctg ggcagagctc gccccacaaa gaagaaaaca
     2461 acccaggatt ccacagattt agtggataac atgtcacctg aagagattga ggcctgggag
     2521 caggagcagc tgagccagcc tgtctgtttt gattcctgct gtattgacca gtctcccttc
     2581 cagctggtgg agcagacaac cctgcacaag actcataccc tgttttcact ccttggcctc
     2641 cacctcgctt acgtgaccag catggggaag ctcaggggcg tcctggccct ggaggagcta
     2701 cagaaggcca ttgaggggca caccaagtct ggggtgcagc tccgccctcc ccttgccagc
     2761 ttccggaaca cgacttcaac tcgaaagagt accggggcac ctccatcttc tgcagagaac
     2821 tggaacctgc ctgaggacag gcctggggcc actggaacag gggatgtgat tgctgcctcc
     2881 ccagagaccc ctgtgccatc tccttcccca gagccccctc tctccctggc cccaggcaag
     2941 gtagagggcg agttggagga gctggagctg gtggagagtc cagggctgga agaggagctg
     3001 gccgacatct tgcagggccc cagcctgcga tccacagacg aggaggatga ggatgaactg
     3061 atcctttgac cccctcccac gacctcctca taaagaccgt ggagaggccc agcctgaggg
     3121 tgaacttgtg tggggcaggg tgcgtcctga atgtggcgag gtcatgccaa tgtcgtggcc
     3181 tcttcca
//
