LOCUS       NP_000074                988 aa            linear   PRI 28-APR-2025
DEFINITION  chloride channel protein 1 [Homo sapiens].
ACCESSION   NP_000074
VERSION     NP_000074.3
DBSOURCE    REFSEQ: accession 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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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  (residues 1 to 988)
  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 (residues 1 to 988)
  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 NP_000074.2.
            
            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##
FEATURES             Location/Qualifiers
     source          1..988
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     Protein         1..988
                     /product="chloride channel protein 1"
                     /note="clC-1; chloride channel protein, skeletal muscle;
                     chloride channel, voltage-sensitive 1; chloride channel 1,
                     skeletal muscle"
                     /calculated_mol_wt=108496
     Region          65..92
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Site            119..150
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Region          131..592
                     /region_name="ClC_1_like"
                     /note="ClC-1-like chloride channel proteins. This CD
                     includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is
                     expressed in skeletal muscle and its mutation leads to
                     both recessively and dominantly-inherited forms of muscle
                     stiffness or myotonia. ClC-K is...; cd03683"
                     /db_xref="CDD:239655"
     Site            159..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Site            order(188..192,230..234,482..486,578)
                     /site_type="active"
                     /note="putative Cl- selectivity filter [active]"
                     /db_xref="CDD:239655"
     Region          188..192
                     /region_name="Selectivity filter part_1.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Region          230..234
                     /region_name="Selectivity filter part_2.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Site            232
                     /site_type="other"
                     /note="Protopore gate.
                     /evidence=ECO:0000305|PubMed:29809153; propagated from
                     UniProtKB/Swiss-Prot (P35523.3)"
     Site            232
                     /site_type="active"
                     /note="putative pore gating glutamate residue [active]"
                     /db_xref="CDD:239655"
     Site            302..321
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Site            348..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Site            391..408
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Region          482..486
                     /region_name="Selectivity filter part_3.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Region          605..869
                     /region_name="CBS_pair_SF"
                     /note="Two tandem repeats of the cystathionine
                     beta-synthase (CBS pair) domains superfamily; cl15354"
                     /db_xref="CDD:449531"
     Site            order(610,612..614,636..638,848,860,862,864..865,868)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341367"
     Region          610..820
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341367"
     Site            order(636,650,655..656,659,826,848..850,864)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341367"
     Region          713..764
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Region          826..868
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341367"
     Region          880..988
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3)"
     Site            886
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64347; propagated from
                     UniProtKB/Swiss-Prot (P35523.3)"
     CDS             1..988
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /coded_by="NM_000083.3:103..3069"
                     /db_xref="CCDS:CCDS5881.1"
                     /db_xref="GeneID:1180"
                     /db_xref="HGNC:HGNC:2019"
                     /db_xref="MIM:118425"
ORIGIN      
        1 meqsrsqqrg geqswwgsdp qyqympfehc tsyglpseng glqhrlrkda gprhnvhptq
       61 iyghhkeqfs dreqdigmpk ktgssstvds kdedhyskcq dcihrlgqvv rrklgedgif
      121 lvllgllmal vswsmdyvsa kslqaykwsy aqmqpslplq flvwvtfplv lilfsalfch
      181 lispqavgsg ipemktilrg vvlkeyltmk afvakvvalt aglgsgipvg kegpfvhias
      241 icaavlskfm svfcgvyeqp yyysdiltvg cavgvgccfg tplggvlfsi evtstyfavr
      301 nywrgffaat fsafvfrvla vwnkdavtit alfrtnfrmd fpfdlkelpa faaigiccgl
      361 lgavfvylhr qvmlgvrkhk alsqflakhr llypgivtfv iasftfppgm gqfmagelmp
      421 reaistlfdn ntwvkhagdp eslgqsavwi hprvnvviii flffvmkfwm sivattmpip
      481 cggfmpvfvl gaafgrlvge imamlfpdgi lfddiiykil pggyavigaa altgavshtv
      541 stavicfelt gqiahilpmm vavilanmva qslqpslyds iiqvkklpyl pdlgwnqlsk
      601 ytifvedimv rdvkfvsasy tygelrtllq tttvktlplv dskdsmillg sverselqal
      661 lqrhlcperr lraaqemark lselpydgka rlageglpga ppgrpesfaf vdedededls
      721 gkselppsla lhpsttapls peepngplpg hkqqpeapep agqrpsifqs llhcllgrar
      781 ptkkkttqds tdlvdnmspe eieaweqeql sqpvcfdscc idqspfqlve qttlhkthtl
      841 fsllglhlay vtsmgklrgv laleelqkai eghtksgvql rpplasfrnt tstrkstgap
      901 pssaenwnlp edrpgatgtg dviaaspetp vpspspeppl slapgkvege leelelvesp
      961 gleeeladil qgpslrstde ededelil
//
