LOCUS       NP_037279                994 aa            linear   ROD 29-JUL-2024
DEFINITION  chloride channel protein 1 [Rattus norvegicus].
ACCESSION   NP_037279
VERSION     NP_037279.1
DBSOURCE    REFSEQ: accession NM_013147.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (residues 1 to 994)
  AUTHORS   Ronstedt,K., Sternberg,D., Detro-Dassen,S., Gramkow,T.,
            Begemann,B., Becher,T., Kilian,P., Grieschat,M., Machtens,J.P.,
            Schmalzing,G., Fischer,M. and Fahlke,C.
  TITLE     Impaired surface membrane insertion of homo- and heterodimeric
            human muscle chloride channels carrying amino-terminal
            myotonia-causing mutations
  JOURNAL   Sci Rep 5, 15382 (2015)
   PUBMED   26502825
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 994)
  AUTHORS   Portaro,S., Altamura,C., Licata,N., Camerino,G.M., Imbrici,P.,
            Musumeci,O., Rodolico,C., Conte Camerino,D., Toscano,A. and
            Desaphy,J.F.
  TITLE     Clinical, Molecular, and Functional Characterization of CLCN1
            Mutations in Three Families with Recessive Myotonia Congenita
  JOURNAL   Neuromolecular Med 17 (3), 285-296 (2015)
   PUBMED   26007199
REFERENCE   3  (residues 1 to 994)
  AUTHORS   Ulzi,G., Lecchi,M., Sansone,V., Redaelli,E., Corti,E.,
            Saccomanno,D., Pagliarani,S., Corti,S., Magri,F., Raimondi,M.,
            D'Angelo,G., Modoni,A., Bresolin,N., Meola,G., Wanke,E., Comi,G.P.
            and Lucchiari,S.
  TITLE     Myotonia congenita: novel mutations in CLCN1 gene and functional
            characterizations in Italian patients
  JOURNAL   J Neurol Sci 318 (1-2), 65-71 (2012)
   PUBMED   22521272
REFERENCE   4  (residues 1 to 994)
  AUTHORS   Pedersen,T.H., de Paoli,F.V., Flatman,J.A. and Nielsen,O.B.
  TITLE     Regulation of ClC-1 and KATP channels in action potential-firing
            fast-twitch muscle fibers
  JOURNAL   J Gen Physiol 134 (4), 309-322 (2009)
   PUBMED   19786584
  REMARK    GeneRIF: Regulation of ClC-1 in action potential-firing fast-twitch
            muscle fibers
            Erratum:[J Gen Physiol. 2009 Dec;134(6):523. de Paoli, Frank
            Vinzenco [corrected to de Paoli, Frank Vincenzo]]
REFERENCE   5  (residues 1 to 994)
  AUTHORS   Pierno,S., Camerino,G.M., Cippone,V., Rolland,J.F., Desaphy,J.F.,
            De Luca,A., Liantonio,A., Bianco,G., Kunic,J.D., George,A.L. Jr.
            and Conte Camerino,D.
  TITLE     Statins and fenofibrate affect skeletal muscle chloride conductance
            in rats by differently impairing ClC-1 channel regulation and
            expression
  JOURNAL   Br J Pharmacol 156 (8), 1206-1215 (2009)
   PUBMED   19220292
  REMARK    GeneRIF: Statins and fenofibrate affect skeletal muscle chloride
            conductance in rats by differently impairing ClC-1 channel
            regulation and expression.
REFERENCE   6  (residues 1 to 994)
  AUTHORS   Kwitek,A.E., Gullings-Handley,J., Yu,J., Carlos,D.C., Orlebeke,K.,
            Nie,J., Eckert,J., Lemke,A., Andrae,J.W., Bromberg,S., Pasko,D.,
            Chen,D., Scheetz,T.E., Casavant,T.L., Soares,M.B., Sheffield,V.C.,
            Tonellato,P.J. and Jacob,H.J.
  TITLE     High-density rat radiation hybrid maps containing over 24,000
            SSLPs, genes, and ESTs provide a direct link to the rat genome
            sequence
  JOURNAL   Genome Res 14 (4), 750-757 (2004)
   PUBMED   15060019
REFERENCE   7  (residues 1 to 994)
  AUTHORS   Gurnett,C.A., Kahl,S.D., Anderson,R.D. and Campbell,K.P.
  TITLE     Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in
            myotonic mice
  JOURNAL   J Biol Chem 270 (16), 9035-9038 (1995)
   PUBMED   7721815
REFERENCE   8  (residues 1 to 994)
  AUTHORS   Lorenz,C., Meyer-Kleine,C., Steinmeyer,K., Koch,M.C. and
            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
REFERENCE   9  (residues 1 to 994)
  AUTHORS   Steinmeyer,K., Ortland,C. and Jentsch,T.J.
  TITLE     Primary structure and functional expression of a developmentally
            regulated skeletal muscle chloride channel
  JOURNAL   Nature 354 (6351), 301-304 (1991)
   PUBMED   1659664
REFERENCE   10 (residues 1 to 994)
  AUTHORS   Mehrke,G., Brinkmeier,H. and Jockusch,H.
  TITLE     The myotonic mouse mutant ADR: electrophysiology of the muscle
            fiber
  JOURNAL   Muscle Nerve 11 (5), 440-446 (1988)
   PUBMED   2453798
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X62894.1.
            
            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 :: X62894.1, AY112740.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760384, SAMEA5760386
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..994
                     /organism="Rattus norvegicus"
                     /db_xref="taxon:10116"
                     /chromosome="4"
                     /map="4q24"
     Protein         1..994
                     /product="chloride channel protein 1"
                     /note="chloride channel protein, skeletal muscle; clC-1;
                     chloride channel, voltage-sensitive 1; chloride channel 1,
                     skeletal muscle"
                     /calculated_mol_wt=109943
     Region          37..61
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Region          117..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            119..150
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Site            159..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     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 (P35524.1)"
     Region          230..234
                     /region_name="Selectivity filter part_2.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Site            232
                     /site_type="other"
                     /note="Protopore gate.
                     /evidence=ECO:0000250|UniProtKB:P35523; propagated from
                     UniProtKB/Swiss-Prot (P35524.1)"
     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 (P35524.1)"
     Site            348..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Site            391..408
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Region          482..486
                     /region_name="Selectivity filter part_3.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Region          605..875
                     /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..638,854,866,868,870..871,874)
                     /site_type="other"
                     /note="ligand binding site II [chemical binding]"
                     /db_xref="CDD:341358"
     Region          610..826
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341358"
     Site            order(636,650,655..656,659,832,854..856,870)
                     /site_type="other"
                     /note="ligand binding site I [chemical binding]"
                     /db_xref="CDD:341358"
     Region          710..769
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Region          832..874
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341358"
     Region          880..923
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:22673903; propagated from
                     UniProtKB/Swiss-Prot (P35524.1)"
     Region          965..994
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P35524.1)"
     CDS             1..994
                     /gene="Clcn1"
                     /gene_synonym="SMCC"
                     /coded_by="NM_013147.1:84..3068"
                     /db_xref="GeneID:25688"
                     /db_xref="RGD:2360"
ORIGIN      
        1 mersqsqqhg geqswwgtap qyqympfehc tsyglpseng glqhrprkdl gprhnahptq
       61 iyghhkeqys yqaqdrgipk ktdssstvds ldedhyskcq dcvhrlgrvl rrklgedwif
      121 lvllgllmal vswcmdyvsa kslqaykwty aqmqpslplq ylawvtfpli lilfsalfcq
      181 lispqavgsg ipemktilrg vvlkeyltlk afvakvvalt aglgsgipvg kegpfvhias
      241 icaavlskfm smfsgvyeqp yyytdiltvg cavgvgccfg tplggvlfsi evtstyfavr
      301 nywrgffaat fsafvfrvla vwnkdavtit alfrtnfrmd fpfdlkelpa favigiccgf
      361 lgavfvylhr qvmlgvrkhk alsqflakhr llypgivtfv iasltfppgm gqfmagelmp
      421 reaistlfdn ntwvkhigdp kslgqsavwi hpqvnvviii llffvmkfwm sivattmpip
      481 cggfmpvfvl gaafgrlvge imamlfpegi lfddiiykil pggyavigaa altgavshtv
      541 stavicfelt gqiahilpmm vavilanmva qslqpslyds iiqvkklpyl pdlgwnqlsk
      601 ftifvedimv rdvkfvsasc tygelrnllq tttvktlplv dskdsmillg sverselqsl
      661 lqrhlcaerr lkaaqdmark lselpyngqa qlagewhpgg rpesfafvde dededvsrkt
      721 elpqtptppp ppppplppqf piapsypeep ngplpshkqp peasdsadqr ssifqrllhc
      781 llgkahstkk kitqdstdlv dnmspeeiea wereqlsqpv cfdfccidqs pfqlveqttl
      841 hkthtlfsll glhlayvtsm gklrgvlale elqkaikght ksgvqlrppl asfrnttsir
      901 ktpggppppa eswnvpeged gaperevmvp tmpetpvppp spevpsclap arvegeleel
      961 emvgnlgpee dladilhgps lrstdeeded elil
//
