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O70496

- CLCN7_MOUSE

UniProt

O70496 - CLCN7_MOUSE

Protein

H(+)/Cl(-) exchange transporter 7

Gene

Clcn7

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei202 – 2021ChlorideBy similarity
    Sitei245 – 2451Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transportBy similarity
    Sitei312 – 3121Mediates proton transfer from the protein to the inner aqueous phaseBy similarity
    Binding sitei512 – 5121Chloride; via amide nitrogenBy similarity
    Binding sitei600 – 6001ChlorideBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi656 – 6583ATPBy similarity
    Nucleotide bindingi781 – 7844ATPBy similarity

    GO - Molecular functioni

    1. antiporter activity Source: UniProtKB-KW
    2. ATP binding Source: UniProtKB-KW
    3. protein binding Source: IntAct
    4. voltage-gated chloride channel activity Source: InterPro

    GO - Biological processi

    1. response to pH Source: Ensembl

    Keywords - Biological processi

    Antiport, Ion transport, Transport

    Keywords - Ligandi

    ATP-binding, Chloride, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_196640. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    H(+)/Cl(-) exchange transporter 7
    Alternative name(s):
    Chloride channel 7 alpha subunit
    Chloride channel protein 7
    Short name:
    ClC-7
    Gene namesi
    Name:Clcn7
    Synonyms:Clc7
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 17

    Organism-specific databases

    MGIiMGI:1347048. Clcn7.

    Subcellular locationi

    Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. cytoplasmic vesicle Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    3. lysosomal membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    Accumulates undegraded endocyted material in neurons or renal proximal tubular cells. Almost all ClC-7-deficient neurons die.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 803803H(+)/Cl(-) exchange transporter 7PRO_0000094453Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei9 – 91Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO70496.
    PRIDEiO70496.

    PTM databases

    PhosphoSiteiO70496.

    Expressioni

    Gene expression databases

    ArrayExpressiO70496.
    BgeeiO70496.
    CleanExiMM_CLCN7.
    GenevestigatoriO70496.

    Interactioni

    Subunit structurei

    Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Ostm1Q8BGT07EBI-987482,EBI-987431

    Protein-protein interaction databases

    BioGridi204933. 1 interaction.
    IntActiO70496. 2 interactions.
    MINTiMINT-4090953.

    Structurei

    3D structure databases

    ProteinModelPortaliO70496.
    SMRiO70496. Positions 127-684, 736-788.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 124124CytoplasmicBy similarityAdd
    BLAST
    Topological domaini596 – 803208CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei204 – 2118HelicalBy similarity
    Intramembranei286 – 29813HelicalBy similarityAdd
    BLAST
    Intramembranei302 – 3109HelicalBy similarity
    Intramembranei543 – 55715HelicalBy similarityAdd
    BLAST
    Intramembranei558 – 5603Note=Loop between two helicesBy similarity
    Intramembranei561 – 57212HelicalBy similarityAdd
    BLAST
    Intramembranei573 – 5764Note=Loop between two helicesBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei125 – 15733HelicalBy similarityAdd
    BLAST
    Transmembranei172 – 19524HelicalBy similarityAdd
    BLAST
    Transmembranei221 – 23919HelicalBy similarityAdd
    BLAST
    Transmembranei245 – 26218HelicalBy similarityAdd
    BLAST
    Transmembranei320 – 33920HelicalBy similarityAdd
    BLAST
    Transmembranei373 – 40331HelicalBy similarityAdd
    BLAST
    Transmembranei408 – 43023HelicalBy similarityAdd
    BLAST
    Transmembranei485 – 50521HelicalBy similarityAdd
    BLAST
    Transmembranei510 – 53324HelicalBy similarityAdd
    BLAST
    Transmembranei577 – 59519HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini629 – 69365CBS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini739 – 79759CBS 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi201 – 2055Selectivity filter part_1By similarity
    Motifi243 – 2475Selectivity filter part_2By similarity
    Motifi510 – 5145Selectivity filter part_3By similarity

    Sequence similaritiesi

    Contains 2 CBS domains.PROSITE-ProRule annotation

    Keywords - Domaini

    CBS domain, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0038.
    HOGENOMiHOG000231081.
    HOVERGENiHBG050985.
    InParanoidiO70496.
    KOiK05016.
    OMAiSWSGRDR.
    OrthoDBiEOG77Q4W6.
    PhylomeDBiO70496.
    TreeFamiTF313867.

    Family and domain databases

    Gene3Di1.10.3080.10. 2 hits.
    InterProiIPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002249. Cl_channel-7.
    [Graphical view]
    PfamiPF00571. CBS. 2 hits.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view]
    PRINTSiPR00762. CLCHANNEL.
    PR01118. CLCHANNEL7.
    SMARTiSM00116. CBS. 2 hits.
    [Graphical view]
    SUPFAMiSSF81340. SSF81340. 2 hits.
    PROSITEiPS51371. CBS. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O70496-1 [UniParc]FASTAAdd to Basket

    « Hide

    MANVSKKVSW SGRDRDDEEG APLLRRTGQP DEETPLLNGA GPGARQSHSA    50
    LFRIGQMNNV ELDDELLDPE VDPPHTFPKE IPHNEKLLSL KYESLDYDNS 100
    ENQLFLEEER RINHTAFRTV EIKRWVICAL IGILTGLVAC FIDIVVENLA 150
    GLKYRVIKDN IDKFTEKGGL SFSLLLWATL NSAFVLVGSV IVAFIEPVAA 200
    GSGIPQIKCF LNGVKIPHVV RLKTLVIKVS GVILSVVGGL AVGKEGPMIH 250
    SGSVIAAGIS QGRSTSLKRD FKIFEYFRRD TEKRDFVSAG AAAGVSAAFG 300
    APVGGVLFSL EEGASFWNQF LTWRIFFASM ISTFTLNFVL SIYHGNMWDL 350
    SSPGLINFGR FDSEKMAYTI HEIPVFIAMG VVGGILGAVF NALNYWLTMF 400
    RIRYIHRPCL QVIEAMLVAA VTATVAFVLI YSSRDCQPLQ GSSMSYPLQL 450
    FCADGEYNSM AAAFFNTPEK SVVSLFHDPP GSYNPMTLGL FTLVYFFLAC 500
    WTYGLTVSAG VFIPSLLIGA AWGRLFGISL SYLTGAAIWA DPGKYALMGA 550
    AAQLGGIVRM TLSLTVIMME ATSNVTYGFP IMLVLMTAKI VGDVFIEGLY 600
    DMHIQLQSVP FLHWEAPVTS HSLTAREVMS TPVTCLRRRE KVGIIVDVLS 650
    DTASNHNGFP VVEDVGDTQP ARLQGLILRS QLIVLLKHKV FVERSNMGLV 700
    QRRLRLKDFR DAYPRFPPIQ SIHVSQDERE CTMDLSEFMN PSPYTVPQEA 750
    SLPRVFKLFR ALGLRHLVVV DNHNQVVGLV TRKDLARYRL GKGGLEELSL 800
    AQT 803
    Length:803
    Mass (Da):88,713
    Last modified:August 1, 1998 - v1
    Checksum:iA7D6DA5791DAA48C
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF063101
    , AF063098, AF063099, AF063100 Genomic DNA. Translation: AAC18832.1.
    BC050907 mRNA. Translation: AAH50907.1.
    BC053049 mRNA. Translation: AAH53049.1.
    BC054799 mRNA. Translation: AAH54799.1.
    CCDSiCCDS28509.1.
    RefSeqiNP_036060.1. NM_011930.3.
    UniGeneiMm.270587.

    Genome annotation databases

    EnsembliENSMUST00000040729; ENSMUSP00000035964; ENSMUSG00000036636.
    GeneIDi26373.
    KEGGimmu:26373.
    UCSCiuc008azv.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF063101
    , AF063098 , AF063099 , AF063100 Genomic DNA. Translation: AAC18832.1 .
    BC050907 mRNA. Translation: AAH50907.1 .
    BC053049 mRNA. Translation: AAH53049.1 .
    BC054799 mRNA. Translation: AAH54799.1 .
    CCDSi CCDS28509.1.
    RefSeqi NP_036060.1. NM_011930.3.
    UniGenei Mm.270587.

    3D structure databases

    ProteinModelPortali O70496.
    SMRi O70496. Positions 127-684, 736-788.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 204933. 1 interaction.
    IntActi O70496. 2 interactions.
    MINTi MINT-4090953.

    PTM databases

    PhosphoSitei O70496.

    Proteomic databases

    PaxDbi O70496.
    PRIDEi O70496.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000040729 ; ENSMUSP00000035964 ; ENSMUSG00000036636 .
    GeneIDi 26373.
    KEGGi mmu:26373.
    UCSCi uc008azv.1. mouse.

    Organism-specific databases

    CTDi 1186.
    MGIi MGI:1347048. Clcn7.

    Phylogenomic databases

    eggNOGi COG0038.
    HOGENOMi HOG000231081.
    HOVERGENi HBG050985.
    InParanoidi O70496.
    KOi K05016.
    OMAi SWSGRDR.
    OrthoDBi EOG77Q4W6.
    PhylomeDBi O70496.
    TreeFami TF313867.

    Enzyme and pathway databases

    Reactomei REACT_196640. Stimuli-sensing channels.

    Miscellaneous databases

    NextBioi 304273.
    PROi O70496.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O70496.
    Bgeei O70496.
    CleanExi MM_CLCN7.
    Genevestigatori O70496.

    Family and domain databases

    Gene3Di 1.10.3080.10. 2 hits.
    InterProi IPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002249. Cl_channel-7.
    [Graphical view ]
    Pfami PF00571. CBS. 2 hits.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view ]
    PRINTSi PR00762. CLCHANNEL.
    PR01118. CLCHANNEL7.
    SMARTi SM00116. CBS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF81340. SSF81340. 2 hits.
    PROSITEi PS51371. CBS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man."
      Kornak U., Kasper D., Boesl M.R., Kaiser E., Schweizer M., Schulz A., Friedrich W., Delling G., Jentsch T.J.
      Cell 104:205-215(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE.
    2. "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].
      Strain: C57BL/6.
      Tissue: Brain.
    3. "ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function."
      Lange P.F., Wartosch L., Jentsch T.J., Fuhrmann J.C.
      Nature 440:220-223(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, INTERACTION WITH OSTM1, SUBCELLULAR LOCATION.
    4. "Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7."
      Wartosch L., Fuhrmann J.C., Schweizer M., Stauber T., Jentsch T.J.
      FASEB J. 23:4056-4068(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE.
    5. "The phagosomal proteome in interferon-gamma-activated macrophages."
      Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
      Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-9, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCLCN7_MOUSE
    AccessioniPrimary (citable) accession number: O70496
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 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 presence of conserved gating glutamate residues is typical for family members that function as antiporters 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