Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P35523

- CLCN1_HUMAN

UniProt

P35523 - CLCN1_HUMAN

Protein

Chloride channel protein 1

Gene

CLCN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 sitei484 – 4841Chloride; via amide nitrogenBy similarity
    Binding sitei578 – 5781ChlorideBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. ion transmembrane transport Source: Reactome
    3. muscle contraction Source: ProtInc
    4. neuronal action potential propagation Source: Ensembl
    5. regulation of anion transport Source: GOC
    6. transmembrane transport Source: Reactome
    7. transport Source: ProtInc

    Keywords - Molecular functioni

    Chloride channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Protein family/group databases

    TCDBi2.A.49.2.1. the chloride carrier/channel (clc) family.

    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:2019. CLCN1.

    Subcellular locationi

    GO - Cellular componenti

    1. chloride channel complex Source: UniProtKB-KW
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: Reactome
    4. sarcolemma Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Myotonia congenita, autosomal dominant (MCD) [MIM:160800]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti161 – 1611F → V in MCD and MCR. 1 Publication
    VAR_001586
    Natural varianti200 – 2001G → R in MCD and MCR. 1 Publication
    VAR_001589
    Natural varianti230 – 2301G → E in MCD and MCR. 1 Publication
    VAR_001590
    Natural varianti286 – 2861V → A in MCD. 1 Publication
    VAR_001594
    Natural varianti290 – 2901I → M in MCD. 1 Publication
    VAR_001595
    Natural varianti307 – 3071F → S in MCD. 1 Publication
    VAR_001598
    Natural varianti313 – 3131A → T in MCD and MCR. 1 Publication
    VAR_001599
    Natural varianti317 – 3171R → Q in MCD.
    VAR_001600
    Natural varianti338 – 3381R → Q in MCD and MCR. 1 Publication
    VAR_001603
    Natural varianti480 – 4801P → L in MCD. 1 Publication
    VAR_001607
    Natural varianti552 – 5521Q → R in MCD, MCR and in myotonia levior. 1 Publication
    VAR_001611
    Natural varianti556 – 5561I → N in MCD and MCR; mild form. 2 Publications
    VAR_001612
    Myotonia congenita, autosomal recessive (MCR) [MIM:255700]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti105 – 1051R → C in MCR.
    Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
    VAR_001582
    Natural varianti136 – 1361D → G in MCR. 1 Publication
    VAR_001584
    Natural varianti150 – 1501Y → C in MCR. 1 Publication
    VAR_001585
    Natural varianti161 – 1611F → V in MCD and MCR. 1 Publication
    VAR_001586
    Natural varianti165 – 1651V → G in MCR.
    VAR_001587
    Natural varianti167 – 1671F → L in MCR. 1 Publication
    Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
    VAR_001588
    Natural varianti200 – 2001G → R in MCD and MCR. 1 Publication
    VAR_001589
    Natural varianti230 – 2301G → E in MCD and MCR. 1 Publication
    VAR_001590
    Natural varianti236 – 2361V → L in MCR. 1 Publication
    VAR_001591
    Natural varianti261 – 2611Y → C in MCR. 1 Publication
    Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
    VAR_001592
    Natural varianti285 – 2851G → E in MCR. 1 Publication
    VAR_001593
    Natural varianti291 – 2911E → K in MCR.
    VAR_001596
    Natural varianti313 – 3131A → T in MCD and MCR. 1 Publication
    VAR_001599
    Natural varianti327 – 3271V → I in MCR.
    VAR_001601
    Natural varianti329 – 3291I → T in MCR.
    VAR_001602
    Natural varianti338 – 3381R → Q in MCD and MCR. 1 Publication
    VAR_001603
    Natural varianti413 – 4131F → C in MCR. 1 Publication
    VAR_001604
    Natural varianti415 – 4151A → V in MCR. 1 Publication
    VAR_001605
    Natural varianti482 – 4821G → R in MCR.
    VAR_001608
    Natural varianti485 – 4851M → V in MCR. 1 Publication
    Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
    VAR_001609
    Natural varianti496 – 4961R → S in MCR. 1 Publication
    VAR_001610
    Natural varianti552 – 5521Q → R in MCD, MCR and in myotonia levior. 1 Publication
    VAR_001611
    Natural varianti556 – 5561I → N in MCD and MCR; mild form. 2 Publications
    VAR_001612
    Natural varianti563 – 5631V → I in MCR. 1 Publication
    VAR_001613
    Natural varianti708 – 7081F → L in MCR. 1 Publication
    VAR_001614

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi160800. phenotype.
    255700. phenotype.
    Orphaneti614. Thomsen and Becker disease.
    PharmGKBiPA26546.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 988988Chloride channel protein 1PRO_0000094429Add
    BLAST

    Proteomic databases

    PaxDbiP35523.
    PRIDEiP35523.

    PTM databases

    PhosphoSiteiP35523.

    Expressioni

    Tissue specificityi

    Predominantly expressed in skeletal muscles.

    Gene expression databases

    ArrayExpressiP35523.
    BgeeiP35523.
    CleanExiHS_CLCN1.
    GenevestigatoriP35523.

    Interactioni

    Subunit structurei

    Homotetramer.Curated

    Protein-protein interaction databases

    STRINGi9606.ENSP00000339867.

    Structurei

    3D structure databases

    ProteinModelPortaliP35523.
    SMRiP35523. Positions 120-670, 797-872.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 114114CytoplasmicBy similarityAdd
    BLAST
    Topological domaini574 – 988415CytoplasmicBy 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
    Domaini821 – 87656CBS 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.
    HOGENOMiHOG000231297.
    HOVERGENiHBG005332.
    InParanoidiP35523.
    KOiK05010.
    OMAiFTFPPGM.
    OrthoDBiEOG77WWCD.
    PhylomeDBiP35523.
    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.

    P35523-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA    50
    GPRHNVHPTQ IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ 100
    DCIHRLGQVV RRKLGEDGIF LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY 150
    AQMQPSLPLQ FLVWVTFPLV LILFSALFCH LISPQAVGSG IPEMKTILRG 200
    VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS ICAAVLSKFM 250
    SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR 300
    NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA 350
    FAAIGICCGL LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV 400
    IASFTFPPGM GQFMAGELMP REAISTLFDN NTWVKHAGDP ESLGQSAVWI 450
    HPRVNVVIII FLFFVMKFWM SIVATTMPIP CGGFMPVFVL GAAFGRLVGE 500
    IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV STAVICFELT 550
    GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK 600
    YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG 650
    SVERSELQAL LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA 700
    PPGRPESFAF VDEDEDEDLS GKSELPPSLA LHPSTTAPLS PEEPNGPLPG 750
    HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR PTKKKTTQDS TDLVDNMSPE 800
    EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL FSLLGLHLAY 850
    VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP 900
    PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE 950
    LEELELVESP GLEEELADIL QGPSLRSTDE EDEDELIL 988
    Length:988
    Mass (Da):108,626
    Last modified:November 2, 2010 - v3
    Checksum:iCA838BCD2AF3CA68
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti697 – 6971L → P in CAA80996. (PubMed:8112288)Curated
    Sequence conflicti697 – 6971L → P in CAA81103. (PubMed:8112288)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti105 – 1051R → C in MCR.
    Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
    VAR_001582
    Natural varianti118 – 1181G → W.3 Publications
    Corresponds to variant rs10282312 [ dbSNP | Ensembl ].
    VAR_001583
    Natural varianti136 – 1361D → G in MCR. 1 Publication
    VAR_001584
    Natural varianti150 – 1501Y → C in MCR. 1 Publication
    VAR_001585
    Natural varianti161 – 1611F → V in MCD and MCR. 1 Publication
    VAR_001586
    Natural varianti165 – 1651V → G in MCR.
    VAR_001587
    Natural varianti167 – 1671F → L in MCR. 1 Publication
    Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
    VAR_001588
    Natural varianti200 – 2001G → R in MCD and MCR. 1 Publication
    VAR_001589
    Natural varianti230 – 2301G → E in MCD and MCR. 1 Publication
    VAR_001590
    Natural varianti236 – 2361V → L in MCR. 1 Publication
    VAR_001591
    Natural varianti261 – 2611Y → C in MCR. 1 Publication
    Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
    VAR_001592
    Natural varianti285 – 2851G → E in MCR. 1 Publication
    VAR_001593
    Natural varianti286 – 2861V → A in MCD. 1 Publication
    VAR_001594
    Natural varianti290 – 2901I → M in MCD. 1 Publication
    VAR_001595
    Natural varianti291 – 2911E → K in MCR.
    VAR_001596
    Natural varianti300 – 3001R → Q.1 Publication
    Corresponds to variant rs118066140 [ dbSNP | Ensembl ].
    VAR_001597
    Natural varianti307 – 3071F → S in MCD. 1 Publication
    VAR_001598
    Natural varianti313 – 3131A → T in MCD and MCR. 1 Publication
    VAR_001599
    Natural varianti317 – 3171R → Q in MCD.
    VAR_001600
    Natural varianti327 – 3271V → I in MCR.
    VAR_001601
    Natural varianti329 – 3291I → T in MCR.
    VAR_001602
    Natural varianti338 – 3381R → Q in MCD and MCR. 1 Publication
    VAR_001603
    Natural varianti413 – 4131F → C in MCR. 1 Publication
    VAR_001604
    Natural varianti415 – 4151A → V in MCR. 1 Publication
    VAR_001605
    Natural varianti437 – 4371A → T.
    Corresponds to variant rs41276054 [ dbSNP | Ensembl ].
    VAR_001606
    Natural varianti480 – 4801P → L in MCD. 1 Publication
    VAR_001607
    Natural varianti482 – 4821G → R in MCR.
    VAR_001608
    Natural varianti485 – 4851M → V in MCR. 1 Publication
    Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
    VAR_001609
    Natural varianti496 – 4961R → S in MCR. 1 Publication
    VAR_001610
    Natural varianti548 – 5481E → K in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036300
    Natural varianti552 – 5521Q → R in MCD, MCR and in myotonia levior. 1 Publication
    VAR_001611
    Natural varianti556 – 5561I → N in MCD and MCR; mild form. 2 Publications
    VAR_001612
    Natural varianti563 – 5631V → I in MCR. 1 Publication
    VAR_001613
    Natural varianti708 – 7081F → L in MCR. 1 Publication
    VAR_001614
    Natural varianti727 – 7271P → L.
    Corresponds to variant rs13438232 [ dbSNP | Ensembl ].
    VAR_047779

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z25587 Genomic DNA. Translation: CAA80996.1.
    Z25884 mRNA. Translation: CAA81103.1.
    CH236959 Genomic DNA. Translation: EAL23786.1.
    BC112156 mRNA. Translation: AAI12157.1.
    BC113495 mRNA. Translation: AAI13496.1.
    M97820 mRNA. No translation available.
    L08261 Genomic DNA. No translation available.
    L08262 Genomic DNA. No translation available.
    L08263 Genomic DNA. No translation available.
    L08264 Genomic DNA. No translation available.
    L08265 Genomic DNA. No translation available.
    Z25753
    , Z25754, Z25755, Z25756, Z25757, Z25758, Z25759, Z25760, Z25761, Z25762, Z25763, Z25764, Z25765, Z25766, Z25767, Z25752 Genomic DNA. Translation: CAB56792.1.
    Z25768, Z25872 Genomic DNA. Translation: CAB56814.1.
    CCDSiCCDS5881.1.
    PIRiS37078.
    RefSeqiNP_000074.2. NM_000083.2.
    UniGeneiHs.121483.

    Genome annotation databases

    EnsembliENST00000343257; ENSP00000339867; ENSG00000188037.
    GeneIDi1180.
    KEGGihsa:1180.
    UCSCiuc003wcr.1. human.

    Polymorphism databases

    DMDMi311033468.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z25587 Genomic DNA. Translation: CAA80996.1 .
    Z25884 mRNA. Translation: CAA81103.1 .
    CH236959 Genomic DNA. Translation: EAL23786.1 .
    BC112156 mRNA. Translation: AAI12157.1 .
    BC113495 mRNA. Translation: AAI13496.1 .
    M97820 mRNA. No translation available.
    L08261 Genomic DNA. No translation available.
    L08262 Genomic DNA. No translation available.
    L08263 Genomic DNA. No translation available.
    L08264 Genomic DNA. No translation available.
    L08265 Genomic DNA. No translation available.
    Z25753
    , Z25754 , Z25755 , Z25756 , Z25757 , Z25758 , Z25759 , Z25760 , Z25761 , Z25762 , Z25763 , Z25764 , Z25765 , Z25766 , Z25767 , Z25752 Genomic DNA. Translation: CAB56792.1 .
    Z25768 , Z25872 Genomic DNA. Translation: CAB56814.1 .
    CCDSi CCDS5881.1.
    PIRi S37078.
    RefSeqi NP_000074.2. NM_000083.2.
    UniGenei Hs.121483.

    3D structure databases

    ProteinModelPortali P35523.
    SMRi P35523. Positions 120-670, 797-872.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000339867.

    Chemistry

    GuidetoPHARMACOLOGYi 698.

    Protein family/group databases

    TCDBi 2.A.49.2.1. the chloride carrier/channel (clc) family.

    PTM databases

    PhosphoSitei P35523.

    Polymorphism databases

    DMDMi 311033468.

    Proteomic databases

    PaxDbi P35523.
    PRIDEi P35523.

    Protocols and materials databases

    DNASUi 1180.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343257 ; ENSP00000339867 ; ENSG00000188037 .
    GeneIDi 1180.
    KEGGi hsa:1180.
    UCSCi uc003wcr.1. human.

    Organism-specific databases

    CTDi 1180.
    GeneCardsi GC07P143013.
    GeneReviewsi CLCN1.
    HGNCi HGNC:2019. CLCN1.
    MIMi 118425. gene.
    160800. phenotype.
    255700. phenotype.
    neXtProti NX_P35523.
    Orphaneti 614. Thomsen and Becker disease.
    PharmGKBi PA26546.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0038.
    HOGENOMi HOG000231297.
    HOVERGENi HBG005332.
    InParanoidi P35523.
    KOi K05010.
    OMAi FTFPPGM.
    OrthoDBi EOG77WWCD.
    PhylomeDBi P35523.
    TreeFami TF352264.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii CLCN1.
    GenomeRNAii 1180.
    NextBioi 4876.
    PROi P35523.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35523.
    Bgeei P35523.
    CleanExi HS_CLCN1.
    Genevestigatori P35523.

    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. "Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)."
      Steinmeyer K., Lorenz C., Pusch M., Koch M.C., Jentsch T.J.
      EMBO J. 13:737-743(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MCD LEU-480, VARIANT TRP-118.
    2. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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], VARIANT TRP-118.
    4. "The skeletal muscle chloride channel in dominant and recessive human myotonia."
      Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., Zoll B., Lehmann-Horn F., Grzeschik K.-H., Jentsch T.J.
      Science 257:797-800(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 171-988, VARIANT MCR CYS-413.
    5. "Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)."
      George A.L. Jr., Crackower M.A., Abdalla J.A., Hudson A.J., Ebers G.C.
      Nat. Genet. 3:305-310(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MCD GLU-230.
    6. "Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia."
      Lorenz C., Meyer-Kleine C., Steinmeyer K., Koch M.C., Jentsch T.J.
      Hum. Mol. Genet. 3:941-946(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MCR SER-496.
    7. "Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion."
      Heine R., George A.L. Jr., Pika U., Deymeer F., Ruedel R., Lehmann-Horn F.
      Hum. Mol. Genet. 3:1123-1128(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MCR GLY-136.
    8. "Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita."
      George A.L. Jr., Sloan-Brown K., Fenichel G.M., Mitchell G.A., Spiegel R., Pascuzzi R.M.
      Hum. Mol. Genet. 3:2071-2072(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCR LEU-167 AND GLN-338, VARIANT GLN-300.
    9. "Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia."
      Meyer-Kleine C., Steinmeyer K., Ricker K., Jentsch T.J., Koch M.C.
      Am. J. Hum. Genet. 57:1325-1334(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCR AND MCD.
    10. Cited for: VARIANT MCD MET-290, VARIANT MYOTONIA LEVIOR ARG-552, VARIANT TRP-118.
    11. "Novel muscle chloride channel mutations and their effects on heterozygous carriers."
      Mailaender V., Heine R., Deymeer F., Lehmann-Horn F.
      Am. J. Hum. Genet. 58:317-324(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCR CYS-150; ARG-200; CYS-261 AND VAL-415.
    12. "ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence."
      Kubisch C., Schmidt-Rose T., Fontaine B., Bretag A.H., Jentsch T.J.
      Hum. Mol. Genet. 7:1753-1760(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCD/MCR LEU-236; GLU-285; ALA-286; SER-307; VAL-485 AND ASN-556.
    13. "Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita."
      Sangiuolo F., Botta A., Mesoraca A., Servidei S., Merlini L., Fratta G., Novelli G., Dallapiccola B.
      Hum. Mutat. 11:331-331(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCR ILE-563 AND LEU-708.
    14. "Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance."
      Plassart-Schiess E., Gervais A., Eymard B., Lagueny A., Pouget J., Warter J.-M., Fardeau M., Jentsch T.J., Fontaine B.
      Neurology 50:1176-1179(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MCD/MCR VAL-161; THR-313 AND ASN-556.
    15. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-548.

    Entry informationi

    Entry nameiCLCN1_HUMAN
    AccessioniPrimary (citable) accession number: P35523
    Secondary accession number(s): A4D2H5, Q2M202
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 144 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3