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)

P51798

- CLCN7_HUMAN

UniProt

P51798 - CLCN7_HUMAN

Protein

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

Gene

CLCN7

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 155 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 sitei204 – 2041ChlorideBy similarity
    Sitei247 – 2471Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transportBy similarity
    Sitei314 – 3141Mediates proton transfer from the protein to the inner aqueous phaseBy similarity
    Binding sitei514 – 5141Chloride; via amide nitrogenBy similarity
    Binding sitei602 – 6021ChlorideBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi658 – 6603ATPBy similarity
    Nucleotide bindingi783 – 7864ATPBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. ion transmembrane transport Source: Reactome
    3. response to pH Source: Ensembl
    4. transmembrane transport Source: Reactome
    5. transport Source: ProtInc

    Keywords - Biological processi

    Antiport, Ion transport, Transport

    Keywords - Ligandi

    ATP-binding, Chloride, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Protein family/group databases

    TCDBi2.A.49.3.3. the chloride carrier/channel (clc) family.

    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:2025. CLCN7.

    Subcellular locationi

    Lysosome membrane 3 Publications; Multi-pass membrane protein 3 Publications

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321L → P in OPTB4. 1 Publication
    VAR_064637
    Natural varianti214 – 2141N → S in OPTB4. 1 Publication
    VAR_064638
    Natural varianti227 – 2271Missing in OPTB4. 1 Publication
    VAR_064639
    Natural varianti240 – 2401G → R in OPTB4. 2 Publications
    VAR_020998
    Natural varianti249 – 2491P → R in OPTB4. 1 Publication
    VAR_020999
    Natural varianti261 – 2611I → F in OPTB4. 1 Publication
    VAR_037427
    Natural varianti332 – 3321M → V in OPTB4. 1 Publication
    VAR_021001
    Natural varianti403 – 4031R → Q in OPTB4. 1 Publication
    VAR_064641
    Natural varianti521 – 5211G → R in OPTB4. 1 Publication
    VAR_064642
    Natural varianti526 – 5261R → Q in OPTB4. 1 Publication
    VAR_064643
    Natural varianti526 – 5261R → W in OPTB4. 2 Publications
    VAR_021004
    Natural varianti549 – 5491L → P in OPTB4. 1 Publication
    VAR_064644
    Natural varianti614 – 6141L → P in OPTB4. 1 Publication
    VAR_021005
    Natural varianti651 – 6511L → P in OPTB4. 1 Publication
    VAR_064645
    Natural varianti744 – 7441S → F in OPTB4. 1 Publication
    VAR_021007
    Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
    VAR_017838
    Natural varianti762 – 7621R → W in OPTB4. 1 Publication
    VAR_064647
    Natural varianti766 – 7661L → P in OPTB4. 1 Publication
    VAR_017839
    Natural varianti767 – 7671R → P in OPTB4. 1 Publication
    VAR_064648
    Natural varianti767 – 7671R → Q in OPTB4. 1 Publication
    VAR_021008
    Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 3 Publications
    VAR_017840
    Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti215 – 2151G → R in OPTA2. 2 Publications
    VAR_020997
    Natural varianti286 – 2861R → Q in OPTA2. 2 Publications
    VAR_021000
    Natural varianti318 – 3181F → L in OPTA2. 1 Publication
    VAR_064640
    Natural varianti490 – 4901L → F in OPTA2. 1 Publication
    VAR_021003
    Natural varianti677 – 6771G → V in OPTA2. 1 Publication
    VAR_021006
    Natural varianti758 – 7581F → L in OPTA2. 1 Publication
    VAR_064646
    Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
    VAR_017838
    Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 3 Publications
    VAR_017840

    Keywords - Diseasei

    Disease mutation, Osteopetrosis

    Organism-specific databases

    MIMi166600. phenotype.
    611490. phenotype.
    Orphaneti53. Albers-Schonberg osteopetrosis.
    667. Autosomal recessive malignant osteopetrosis.
    210110. Intermediate osteopetrosis.
    PharmGKBiPA26552.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 805805H(+)/Cl(-) exchange transporter 7PRO_0000094452Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei9 – 91PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP51798.
    PaxDbiP51798.
    PRIDEiP51798.

    PTM databases

    PhosphoSiteiP51798.

    Expressioni

    Tissue specificityi

    Brain, testis, muscle and kidney.

    Gene expression databases

    ArrayExpressiP51798.
    BgeeiP51798.
    CleanExiHS_CLCN7.
    GenevestigatoriP51798.

    Organism-specific databases

    HPAiHPA043019.
    HPA043586.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi107600. 1 interaction.
    IntActiP51798. 3 interactions.
    MINTiMINT-3019199.
    STRINGi9606.ENSP00000404772.

    Structurei

    3D structure databases

    ProteinModelPortaliP51798.
    SMRiP51798. Positions 129-687, 745-789.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 126126CytoplasmicBy similarityAdd
    BLAST
    Topological domaini598 – 805208CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei206 – 2138HelicalBy similarity
    Intramembranei288 – 30013HelicalBy similarityAdd
    BLAST
    Intramembranei304 – 3129HelicalBy similarity
    Intramembranei545 – 55915HelicalBy similarityAdd
    BLAST
    Intramembranei560 – 5623Note=Loop between two helicesBy similarity
    Intramembranei563 – 57412HelicalBy similarityAdd
    BLAST
    Intramembranei575 – 5784Note=Loop between two helicesBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei127 – 15933HelicalBy similarityAdd
    BLAST
    Transmembranei174 – 19724HelicalBy similarityAdd
    BLAST
    Transmembranei223 – 24119HelicalBy similarityAdd
    BLAST
    Transmembranei247 – 26418HelicalBy similarityAdd
    BLAST
    Transmembranei322 – 34120HelicalBy similarityAdd
    BLAST
    Transmembranei375 – 40531HelicalBy similarityAdd
    BLAST
    Transmembranei410 – 43223HelicalBy similarityAdd
    BLAST
    Transmembranei487 – 50721HelicalBy similarityAdd
    BLAST
    Transmembranei512 – 53524HelicalBy similarityAdd
    BLAST
    Transmembranei579 – 59719HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini631 – 69565CBS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini741 – 79959CBS 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi203 – 2075Selectivity filter part_1By similarity
    Motifi245 – 2495Selectivity filter part_2By similarity
    Motifi512 – 5165Selectivity 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.
    KOiK05016.
    OrthoDBiEOG77Q4W6.
    PhylomeDBiP51798.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51798-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR    50
    SALFRVGHMS SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD 100
    NSENQLFLEE ERRINHTAFR TVEIKRWVIC ALIGILTGLV ACFIDIVVEN 150
    LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA TLNAAFVLVG SVIVAFIEPV 200
    AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG GLAVGKEGPM 250
    IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA 300
    FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW 350
    DLSSPGLINF GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT 400
    MFRIRYIHRP CLQVIEAVLV AAVTATVAFV LIYSSRDCQP LQGGSMSYPL 450
    QLFCADGEYN SMAAAFFNTP EKSVVSLFHD PPGSYNPLTL GLFTLVYFFL 500
    ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI WADPGKYALM 550
    GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG 600
    LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV 650
    LSDTASNHNG FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG 700
    LVQRRLRLKD FRDAYPRFPP IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ 750
    EASLPRVFKL FRALGLRHLV VVDNRNQVVG LVTRKDLARY RLGKRGLEEL 800
    SLAQT 805
    Length:805
    Mass (Da):88,679
    Last modified:January 11, 2001 - v2
    Checksum:iE56BC0B4ADE1C695
    GO
    Isoform 2 (identifier: P51798-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         48-71: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:781
    Mass (Da):86,026
    Checksum:i21BA4E8E144A260C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti74 – 741D → V in BAF84825. (PubMed:14702039)Curated
    Sequence conflicti267 – 2671T → S in CAA91556. (PubMed:8543009)Curated
    Sequence conflicti279 – 2791F → L in CAA91556. (PubMed:8543009)Curated
    Sequence conflicti279 – 2791F → L in CAA05083. (PubMed:9565675)Curated
    Sequence conflicti324 – 3241T → A in BAF84825. (PubMed:14702039)Curated
    Sequence conflicti348 – 3481N → S in BAG51745. (PubMed:14702039)Curated
    Sequence conflicti415 – 4151I → V in BAG51745. (PubMed:14702039)Curated
    Sequence conflicti710 – 7101D → G in BAG51745. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321L → P in OPTB4. 1 Publication
    VAR_064637
    Natural varianti214 – 2141N → S in OPTB4. 1 Publication
    VAR_064638
    Natural varianti215 – 2151G → R in OPTA2. 2 Publications
    VAR_020997
    Natural varianti227 – 2271Missing in OPTB4. 1 Publication
    VAR_064639
    Natural varianti240 – 2401G → R in OPTB4. 2 Publications
    VAR_020998
    Natural varianti249 – 2491P → R in OPTB4. 1 Publication
    VAR_020999
    Natural varianti261 – 2611I → F in OPTB4. 1 Publication
    VAR_037427
    Natural varianti286 – 2861R → Q in OPTA2. 2 Publications
    VAR_021000
    Natural varianti318 – 3181F → L in OPTA2. 1 Publication
    VAR_064640
    Natural varianti332 – 3321M → V in OPTB4. 1 Publication
    VAR_021001
    Natural varianti403 – 4031R → Q in OPTB4. 1 Publication
    VAR_064641
    Natural varianti418 – 4181V → M.1 Publication
    Corresponds to variant rs12926089 [ dbSNP | Ensembl ].
    VAR_021002
    Natural varianti490 – 4901L → F in OPTA2. 1 Publication
    VAR_021003
    Natural varianti521 – 5211G → R in OPTB4. 1 Publication
    VAR_064642
    Natural varianti526 – 5261R → Q in OPTB4. 1 Publication
    VAR_064643
    Natural varianti526 – 5261R → W in OPTB4. 2 Publications
    VAR_021004
    Natural varianti549 – 5491L → P in OPTB4. 1 Publication
    VAR_064644
    Natural varianti614 – 6141L → P in OPTB4. 1 Publication
    VAR_021005
    Natural varianti651 – 6511L → P in OPTB4. 1 Publication
    VAR_064645
    Natural varianti677 – 6771G → V in OPTA2. 1 Publication
    VAR_021006
    Natural varianti744 – 7441S → F in OPTB4. 1 Publication
    VAR_021007
    Natural varianti758 – 7581F → L in OPTA2. 1 Publication
    VAR_064646
    Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
    VAR_017838
    Natural varianti762 – 7621R → W in OPTB4. 1 Publication
    VAR_064647
    Natural varianti766 – 7661L → P in OPTB4. 1 Publication
    VAR_017839
    Natural varianti767 – 7671R → P in OPTB4. 1 Publication
    VAR_064648
    Natural varianti767 – 7671R → Q in OPTB4. 1 Publication
    VAR_021008
    Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 3 Publications
    VAR_017840

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei48 – 7124Missing in isoform 2. 1 PublicationVSP_045698Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF224741 mRNA. Translation: AAF34711.1.
    AK056551 mRNA. Translation: BAG51745.1.
    AK291404 mRNA. Translation: BAF84093.1.
    AK292136 mRNA. Translation: BAF84825.1.
    AL031600 Genomic DNA. No translation available.
    AL031705 Genomic DNA. No translation available.
    BC012737 mRNA. Translation: AAH12737.1.
    Z67743 mRNA. Translation: CAA91556.1.
    AJ001910 Genomic DNA. Translation: CAA05083.1.
    U88844 mRNA. Translation: AAB48530.1.
    CCDSiCCDS32361.1. [P51798-1]
    CCDS45378.1. [P51798-2]
    PIRiS68427.
    RefSeqiNP_001107803.1. NM_001114331.2. [P51798-2]
    NP_001278.1. NM_001287.5. [P51798-1]
    UniGeneiHs.459649.

    Genome annotation databases

    EnsembliENST00000382745; ENSP00000372193; ENSG00000103249. [P51798-1]
    ENST00000448525; ENSP00000410907; ENSG00000103249. [P51798-2]
    GeneIDi1186.
    KEGGihsa:1186.
    UCSCiuc002clv.3. human. [P51798-1]

    Polymorphism databases

    DMDMi12644301.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF224741 mRNA. Translation: AAF34711.1 .
    AK056551 mRNA. Translation: BAG51745.1 .
    AK291404 mRNA. Translation: BAF84093.1 .
    AK292136 mRNA. Translation: BAF84825.1 .
    AL031600 Genomic DNA. No translation available.
    AL031705 Genomic DNA. No translation available.
    BC012737 mRNA. Translation: AAH12737.1 .
    Z67743 mRNA. Translation: CAA91556.1 .
    AJ001910 Genomic DNA. Translation: CAA05083.1 .
    U88844 mRNA. Translation: AAB48530.1 .
    CCDSi CCDS32361.1. [P51798-1 ]
    CCDS45378.1. [P51798-2 ]
    PIRi S68427.
    RefSeqi NP_001107803.1. NM_001114331.2. [P51798-2 ]
    NP_001278.1. NM_001287.5. [P51798-1 ]
    UniGenei Hs.459649.

    3D structure databases

    ProteinModelPortali P51798.
    SMRi P51798. Positions 129-687, 745-789.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107600. 1 interaction.
    IntActi P51798. 3 interactions.
    MINTi MINT-3019199.
    STRINGi 9606.ENSP00000404772.

    Chemistry

    GuidetoPHARMACOLOGYi 706.

    Protein family/group databases

    TCDBi 2.A.49.3.3. the chloride carrier/channel (clc) family.

    PTM databases

    PhosphoSitei P51798.

    Polymorphism databases

    DMDMi 12644301.

    Proteomic databases

    MaxQBi P51798.
    PaxDbi P51798.
    PRIDEi P51798.

    Protocols and materials databases

    DNASUi 1186.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382745 ; ENSP00000372193 ; ENSG00000103249 . [P51798-1 ]
    ENST00000448525 ; ENSP00000410907 ; ENSG00000103249 . [P51798-2 ]
    GeneIDi 1186.
    KEGGi hsa:1186.
    UCSCi uc002clv.3. human. [P51798-1 ]

    Organism-specific databases

    CTDi 1186.
    GeneCardsi GC16M001494.
    GeneReviewsi CLCN7.
    HGNCi HGNC:2025. CLCN7.
    HPAi HPA043019.
    HPA043586.
    MIMi 166600. phenotype.
    602727. gene.
    611490. phenotype.
    neXtProti NX_P51798.
    Orphaneti 53. Albers-Schonberg osteopetrosis.
    667. Autosomal recessive malignant osteopetrosis.
    210110. Intermediate osteopetrosis.
    PharmGKBi PA26552.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0038.
    HOGENOMi HOG000231081.
    HOVERGENi HBG050985.
    KOi K05016.
    OrthoDBi EOG77Q4W6.
    PhylomeDBi P51798.
    TreeFami TF313867.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    ChiTaRSi CLCN7. human.
    GeneWikii CLCN7.
    GenomeRNAii 1186.
    NextBioi 35464476.
    PROi P51798.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51798.
    Bgeei P51798.
    CleanExi HS_CLCN7.
    Genevestigatori P51798.

    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. "Ion channels in lens epithelia."
      Rae J.L.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lens epithelium.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Synovium.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORM 1).
      Tissue: Skin.
    5. "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family."
      Brandt S., Jentsch T.J.
      FEBS Lett. 377:15-20(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-805 (ISOFORM 1).
      Tissue: Brain.
    6. "The exon-intron architecture of human chloride channel genes is not conserved."
      Eggermont J.
      Biochim. Biophys. Acta 1397:156-160(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 275-432.
    7. Schutte B.C., Malik M.I., Fingert J., Stone E., Lamb F.S.
      Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 744-805 (ISOFORM 1).
      Tissue: Mammary gland.
    8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Placenta.
    10. "The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes."
      Graves A.R., Curran P.K., Smith C.L., Mindell J.A.
      Nature 453:788-792(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    13. "ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity."
      Leisle L., Ludwig C.F., Wagner F.A., Jentsch T.J., Stauber T.
      EMBO J. 30:2140-2152(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, INTERACTION WITH OSTM1, SUBCELLULAR LOCATION.
    14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "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: VARIANT OPTB4 GLN-762.
    16. "Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene."
      Cleiren E., Benichou O., Van Hul E., Gram J., Bollerslav J., Singer F.R., Beaverson K., Aledo A., Whyte M.P., Yoneyama T., de Vernejoul M.-C., Van Hul W.
      Hum. Mol. Genet. 10:2861-2867(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OPTB4 PRO-766, VARIANT OPTA2 TRP-767.
    17. Cited for: VARIANTS OPTB4 ARG-240; ARG-249; VAL-332; TRP-526; PRO-614; PHE-744; GLN-767 AND TRP-767, VARIANTS OPTA2 ARG-215; GLN-286; PHE-490 AND VAL-677, VARIANT MET-418.
    18. "DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity."
      Lam C.-W., Tong S.-F., Wong K., Luo Y.F., Tang H.-Y., Ha S.-Y., Chan M.H.-M.
      J. Hum. Genet. 52:98-101(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OPTB4 PHE-261.
    19. Cited for: VARIANTS OPTB4 PRO-132; SER-214; LEU-227 DEL; ARG-240; GLN-403; ARG-521; GLN-526; TRP-526; PRO-549; PRO-651; TRP-762 AND PRO-767, VARIANTS OPTA2 ARG-215; GLN-286; LEU-318; LEU-758; GLN-762 AND TRP-767.

    Entry informationi

    Entry nameiCLCN7_HUMAN
    AccessioniPrimary (citable) accession number: P51798
    Secondary accession number(s): A6NEJ7
    , A8K5T9, A8K7X1, B3KPN3, E9PDB9, Q9NYX5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: January 11, 2001
    Last modified: October 1, 2014
    This is version 155 of the entry and version 2 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 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. Human chromosome 16
      Human chromosome 16: 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