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Q64347

- CLCN1_MOUSE

UniProt

Q64347 - CLCN1_MOUSE

Protein

Chloride channel protein 1

Gene

Clcn1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei189 – 1891ChlorideBy similarity
    Binding sitei578 – 5781ChlorideBy similarity

    GO - Molecular functioni

    1. adenyl nucleotide binding Source: InterPro
    2. voltage-gated chloride channel activity Source: InterPro

    GO - Biological processi

    1. chloride transport Source: MGI
    2. neuronal action potential propagation Source: MGI

    Keywords - Molecular functioni

    Chloride channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_196640. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chloride channel protein 1
    Short name:
    ClC-1
    Alternative name(s):
    Chloride channel protein, skeletal muscle
    Gene namesi
    Name:Clcn1
    Synonyms:Clc1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 6

    Organism-specific databases

    MGIiMGI:88417. Clcn1.

    Subcellular locationi

    GO - Cellular componenti

    1. chloride channel complex Source: UniProtKB-KW
    2. sarcolemma Source: MGI

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi553 – 5531I → T: Causes myotonia. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 994994Chloride channel protein 1PRO_0000094430Add
    BLAST

    Proteomic databases

    PaxDbiQ64347.
    PRIDEiQ64347.

    PTM databases

    PhosphoSiteiQ64347.

    Expressioni

    Tissue specificityi

    Predominantly expressed in skeletal muscles.

    Gene expression databases

    ArrayExpressiQ64347.
    BgeeiQ64347.
    CleanExiMM_CLCN1.
    GenevestigatoriQ64347.

    Interactioni

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000031894.

    Structurei

    3D structure databases

    ProteinModelPortaliQ64347.
    SMRiQ64347. Positions 120-670, 803-878.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 114114CytoplasmicBy similarityAdd
    BLAST
    Topological domaini574 – 994421CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei191 – 1988HelicalBy similarity
    Intramembranei266 – 27813HelicalBy similarityAdd
    BLAST
    Intramembranei282 – 2909HelicalBy similarity
    Intramembranei522 – 53615HelicalBy similarityAdd
    BLAST
    Intramembranei537 – 5382Note=Loop between two helicesBy similarity
    Intramembranei539 – 55012HelicalBy similarityAdd
    BLAST
    Intramembranei551 – 5555Note=Loop between two helicesBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei115 – 15238HelicalBy similarityAdd
    BLAST
    Transmembranei159 – 18224HelicalBy similarityAdd
    BLAST
    Transmembranei207 – 22519HelicalBy similarityAdd
    BLAST
    Transmembranei232 – 25019HelicalBy similarityAdd
    BLAST
    Transmembranei302 – 32120HelicalBy similarityAdd
    BLAST
    Transmembranei348 – 37629HelicalBy similarityAdd
    BLAST
    Transmembranei385 – 40420HelicalBy similarityAdd
    BLAST
    Transmembranei454 – 47421HelicalBy similarityAdd
    BLAST
    Transmembranei482 – 50524HelicalBy similarityAdd
    BLAST
    Transmembranei556 – 57318HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini609 – 66860CBS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini827 – 88256CBS 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi188 – 1925Selectivity filter part_1By similarity
    Motifi230 – 2345Selectivity filter part_2By similarity
    Motifi482 – 4865Selectivity filter part_3By similarity

    Sequence similaritiesi

    Contains 2 CBS domains.PROSITE-ProRule annotation

    Keywords - Domaini

    CBS domain, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0038.
    GeneTreeiENSGT00620000087869.
    HOGENOMiHOG000231297.
    HOVERGENiHBG005332.
    InParanoidiQ8BZ41.
    KOiK05010.
    OMAiFTFPPGM.
    OrthoDBiEOG77WWCD.
    PhylomeDBiQ64347.
    TreeFamiTF352264.

    Family and domain databases

    Gene3Di1.10.3080.10. 1 hit.
    InterProiIPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002243. Cl_channel-1.
    [Graphical view]
    PfamiPF00571. CBS. 1 hit.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view]
    PRINTSiPR00762. CLCHANNEL.
    PR01112. CLCHANNEL1.
    SUPFAMiSSF81340. SSF81340. 1 hit.
    PROSITEiPS51371. CBS. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q64347-1 [UniParc]FASTAAdd to Basket

    « Hide

    MERSQSQRHG GEQSWWGSAP QYQYMPFEHC TSYGLPSENG GLQHRPRKDM    50
    GPRHNAHPTQ IYGHQKEQYS YKAQDGGMPK KMGSSSTMDS LDEDHYSKCQ 100
    DCVHRLGRVL RRKLGEDWIF LVLLGLLMAL VSWCMDYVSA KSLQAYKWTY 150
    AQMKPSLPLQ YLAWVTFPLI LILFSALFCQ LISPQAVGSG IPEMKTILRG 200
    VVLKEYLTLK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS ICAAVLSKFM 250
    SMFSGVYEQP YYYTDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR 300
    NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA 350
    FAVIGICCGF LGAVFVYLHR QVMLGVRKHK CLSQFLAKHR LLYPGIVTFV 400
    IASLTFPPGM GQFMAGELMP REAISTLFDN NTWVKHIGDP QSLGQSAVWL 450
    HPQVNVIIII LLFFVMKFWM SIVATTMPIP CGGFMPVFVL GAAFGRLVGE 500
    IMAMLFPEGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV STAVICFELT 550
    GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK 600
    FTIFVEDIMV RDVKFVSASC TYGELRNLLQ ATTVKTLPLV DSKDSMILLG 650
    SVERSELQSL LQRHLCAERR LKAAQDMARK LSELPYNGKA QLAGDWHPGG 700
    RPESFAFVDE DEDEDLSRKM ELPLTPAPPP PSPPPPPSQF PIAPSNPEEP 750
    NGPLPSHKQP PEASDSADQR SSTFQRLLHC LLGKAHSKKK KITQDSTDLV 800
    DNMSPEEIEA WEREQLSQPV CFDCCCIDQS PFQLVEQTTL HKTHTLFSLL 850
    GLHLAYVTSM GKLRGVLALE ELQKAIEGHT KSGVQLRPPL ASFRNTTSIR 900
    KTPGGPPPPA EGWNVPEDGD GAPGREVMVP TMPETPVPPP SPEAPSCLAP 950
    ARAEGELEEL EMVGSLEPEE ELADILHGPS LRSTDEEDED ELIL 994
    Length:994
    Mass (Da):109,794
    Last modified:May 18, 2010 - v3
    Checksum:i3C523C4325B279BF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti65 – 651Q → H in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti72 – 721K → Q in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti76 – 783GGM → RGI in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti82 – 832MG → TD in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti88 – 881M → V in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti243 – 2431A → T in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti483 – 4842GF → VN in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti585 – 5851K → E in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti620 – 6201C → S in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti631 – 6311A → T in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti746 – 7461N → H no nucleotide entry (PubMed:8119941)Curated
    Sequence conflicti864 – 8641R → T in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti877 – 8771E → K in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti912 – 9121G → S in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti918 – 9192DG → GE in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti924 – 9241G → E in CAB08359. (PubMed:9321463)Curated
    Sequence conflicti944 – 9441A → V no nucleotide entry (PubMed:8119941)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z95127
    , Z95128, Z95129, Z95130, Z95131, Z95132, Z95133, Z95134, Z95135, Z95136, Z95137, Z95138, Z95139, Z95140, Z95141, Z95142, Z95143, Z95144, Z95145, Z95146, Z95147, Z95148, Z95149 Genomic DNA. Translation: CAB08359.1.
    AK036735 mRNA. Translation: BAC29557.1.
    CH466533 Genomic DNA. Translation: EDL13488.1.
    BC114336 mRNA. Translation: AAI14337.1.
    X62895 mRNA. Translation: CAA44684.1.
    X62896 mRNA. Translation: CAA44685.1.
    X62897 mRNA. Translation: CAA44686.1.
    CCDSiCCDS39471.1.
    PIRiI48773.
    RefSeqiNP_038519.1. NM_013491.2.
    UniGeneiMm.386757.

    Genome annotation databases

    EnsembliENSMUST00000031894; ENSMUSP00000031894; ENSMUSG00000029862.
    GeneIDi12723.
    KEGGimmu:12723.
    UCSCiuc009bqs.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z95127
    , Z95128 , Z95129 , Z95130 , Z95131 , Z95132 , Z95133 , Z95134 , Z95135 , Z95136 , Z95137 , Z95138 , Z95139 , Z95140 , Z95141 , Z95142 , Z95143 , Z95144 , Z95145 , Z95146 , Z95147 , Z95148 , Z95149 Genomic DNA. Translation: CAB08359.1 .
    AK036735 mRNA. Translation: BAC29557.1 .
    CH466533 Genomic DNA. Translation: EDL13488.1 .
    BC114336 mRNA. Translation: AAI14337.1 .
    X62895 mRNA. Translation: CAA44684.1 .
    X62896 mRNA. Translation: CAA44685.1 .
    X62897 mRNA. Translation: CAA44686.1 .
    CCDSi CCDS39471.1.
    PIRi I48773.
    RefSeqi NP_038519.1. NM_013491.2.
    UniGenei Mm.386757.

    3D structure databases

    ProteinModelPortali Q64347.
    SMRi Q64347. Positions 120-670, 803-878.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000031894.

    PTM databases

    PhosphoSitei Q64347.

    Proteomic databases

    PaxDbi Q64347.
    PRIDEi Q64347.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000031894 ; ENSMUSP00000031894 ; ENSMUSG00000029862 .
    GeneIDi 12723.
    KEGGi mmu:12723.
    UCSCi uc009bqs.1. mouse.

    Organism-specific databases

    CTDi 1180.
    MGIi MGI:88417. Clcn1.

    Phylogenomic databases

    eggNOGi COG0038.
    GeneTreei ENSGT00620000087869.
    HOGENOMi HOG000231297.
    HOVERGENi HBG005332.
    InParanoidi Q8BZ41.
    KOi K05010.
    OMAi FTFPPGM.
    OrthoDBi EOG77WWCD.
    PhylomeDBi Q64347.
    TreeFami TF352264.

    Enzyme and pathway databases

    Reactomei REACT_196640. Stimuli-sensing channels.

    Miscellaneous databases

    NextBioi 282008.
    PROi Q64347.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q64347.
    Bgeei Q64347.
    CleanExi MM_CLCN1.
    Genevestigatori Q64347.

    Family and domain databases

    Gene3Di 1.10.3080.10. 1 hit.
    InterProi IPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002243. Cl_channel-1.
    [Graphical view ]
    Pfami PF00571. CBS. 1 hit.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view ]
    PRINTSi PR00762. CLCHANNEL.
    PR01112. CLCHANNEL1.
    SUPFAMi SSF81340. SSF81340. 1 hit.
    PROSITEi PS51371. CBS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles."
      Schnuelle V., Antropova O., Gronemeier M., Wedemeyer N., Jockusch H., Bartsch J.W.
      Mamm. Genome 8:718-725(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Strain: C57BL/6.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Bone.
    3. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
      Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "Inactivation of muscle chloride channel by transposon insertion in myotonic mice."
      Steinmeyer K., Klocke R., Ortland C., Gronemeier M., Jockusch H., Gruender S., Jentsch T.J.
      Nature 354:304-308(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 350-467.
    6. "Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice."
      Gronemeier M., Condie A., Prosser J., Steinmeyer K., Jentsch T.J., Jockusch H.
      J. Biol. Chem. 269:5963-5967(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 543-563; 740-760 AND 941-961, MUTAGENESIS OF ILE-553.
      Strain: C57BL/6 X CBA/CaJ and SWR/J.

    Entry informationi

    Entry nameiCLCN1_MOUSE
    AccessioniPrimary (citable) accession number: Q64347
    Secondary accession number(s): Q8BZ41, Q9QVY5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 122 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Miscellaneous

    The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels By similarity.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3