LOCUS       NP_038519                994 aa            linear   ROD 08-FEB-2025
DEFINITION  chloride channel protein 1 [Mus musculus].
ACCESSION   NP_038519
VERSION     NP_038519.1
DBSOURCE    REFSEQ: accession NM_013491.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 994)
  AUTHORS   Yarotskyy,V., Contois,L., Hahn,Y.K., Nass,S.R., Knapp,P.E. and
            Hauser,K.F.
  TITLE     Novel voltage-dependent Cl- channels in striatal medium spiny
            neurons are unrelated to ClC-1 or other known Ca2+-induced Cl-
            channel/transporter types
  JOURNAL   Neurosci Lett 844, 138032 (2025)
   PUBMED   39491780
REFERENCE   2  (residues 1 to 994)
  AUTHORS   Wang,X., Dupont,C., Grant,D., Voss,A.A. and Rich,M.M.
  TITLE     Plateau potentials contribute to myotonia in mouse models of
            myotonia congenita
  JOURNAL   Exp Neurol 361, 114303 (2023)
   PUBMED   36563835
REFERENCE   3  (residues 1 to 994)
  AUTHORS   Rios,J.J., Denton,K., Yu,H., Manickam,K., Garner,S., Russell,J.,
            Ludwig,S., Rosenfeld,J.A., Liu,P., Munch,J., Sucato,D.J.,
            Beutler,B. and Wise,C.A.
  TITLE     Saturation mutagenesis defines novel mouse models of severe spine
            deformity
  JOURNAL   Dis Model Mech 14 (6) (2021)
   PUBMED   34142127
REFERENCE   4  (residues 1 to 994)
  AUTHORS   Myers,J.H., Denman,K., DuPont,C., Hawash,A.A., Novak,K.R.,
            Koesters,A., Grabner,M., Dayal,A., Voss,A.A. and Rich,M.M.
  TITLE     The mechanism underlying transient weakness in myotonia congenita
  JOURNAL   Elife 10, e65691 (2021)
   PUBMED   33904400
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 994)
  AUTHORS   Tanner,M.K., Tang,Z. and Thornton,C.A.
  TITLE     Targeted splice sequencing reveals RNA toxicity and therapeutic
            response in myotonic dystrophy
  JOURNAL   Nucleic Acids Res 49 (4), 2240-2254 (2021)
   PUBMED   33503262
REFERENCE   6  (residues 1 to 994)
  AUTHORS   Steinmeyer,K., Klocke,R., Ortland,C., Gronemeier,M., Jockusch,H.,
            Grunder,S. and Jentsch,T.J.
  TITLE     Inactivation of muscle chloride channel by transposon insertion in
            myotonic mice
  JOURNAL   Nature 354 (6351), 304-308 (1991)
   PUBMED   1659665
REFERENCE   7  (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   8  (residues 1 to 994)
  AUTHORS   Koltgen,D., Brinkmeier,H. and Jockusch,H.
  TITLE     Myotonia and neuromuscular transmission in the mouse
  JOURNAL   Muscle Nerve 14 (8), 775-780 (1991)
   PUBMED   1653899
REFERENCE   9  (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
REFERENCE   10 (residues 1 to 994)
  AUTHORS   Watkins,J., Watts,R.L. and Watts,D.C.
  TITLE     Deficiency of fructose 1,6-bisphosphate aldolase in type-II muscle
            fibres of the A2G-adr mouse mutant with abnormal muscle function
            [proceedings]
  JOURNAL   Biochem Soc Trans 7 (5), 907-908 (1979)
   PUBMED   510737
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC153915.5.
            
            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 :: AK036735.1, BC114336.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN01766820
                                           [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="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 20.57 cM"
     Protein         1..994
                     /product="chloride channel protein 1"
                     /note="chloride channel protein, skeletal muscle; arrested
                     development of righting response"
                     /calculated_mol_wt=109664
     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 (Q64347.3)"
     Site            159..179
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     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 (Q64347.3)"
     Region          230..234
                     /region_name="Selectivity filter part_2.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     Site            232
                     /site_type="other"
                     /note="Protopore gate.
                     /evidence=ECO:0000250|UniProtKB:P35523; propagated from
                     UniProtKB/Swiss-Prot (Q64347.3)"
     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 (Q64347.3)"
     Site            348..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     Site            391..408
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     Region          482..486
                     /region_name="Selectivity filter part_3.
                     /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     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..770
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     Region          832..874
                     /region_name="CBS repeat"
                     /note="CBS repeat [structural motif]"
                     /db_xref="CDD:341358"
     Region          886..954
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q64347.3)"
     Region          971..994
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q64347.3)"
     CDS             1..994
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /coded_by="NM_013491.4:102..3086"
                     /db_xref="CCDS:CCDS39471.1"
                     /db_xref="GeneID:12723"
                     /db_xref="MGI:MGI:88417"
ORIGIN      
        1 mersqsqrhg geqswwgsap qyqympfehc tsyglpseng glqhrprkdm gprhnahptq
       61 iyghqkeqys ykaqdggmpk kmgssstmds ldedhyskcq dcvhrlgrvl rrklgedwif
      121 lvllgllmal vswcmdyvsa kslqaykwty aqmkpslplq 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 clsqflakhr llypgivtfv iasltfppgm gqfmagelmp
      421 reaistlfdn ntwvkhigdp qslgqsavwl hpqvnviiii llffvmkfwm sivattmpip
      481 cggfmpvfvl gaafgrlvge imamlfpegi lfddiiykil pggyavigaa altgavshtv
      541 stavicfelt gqiahilpmm vavilanmva qslqpslyds iiqvkklpyl pdlgwnqlsk
      601 ftifvedimv rdvkfvsasc tygelrnllq attvktlplv dskdsmillg sverselqsl
      661 lqrhlcaerr lkaaqdmark lselpyngka qlagdwhpgg rpesfafvde dededlsrkm
      721 elpltpappp pspppppsqf piapsnpeep ngplpshkqp peasdsadqr sstfqrllhc
      781 llgkahskkk kitqdstdlv dnmspeeiea wereqlsqpv cfdcccidqs pfqlveqttl
      841 hkthtlfsll glhlayvtsm gklrgvlale elqkaieght ksgvqlrppl asfrnttsir
      901 ktpggppppa egwnvpedgd gapgrevmvp tmpetpvppp speapsclap araegeleel
      961 emvgslepee eladilhgps lrstdeeded elil
//
