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P51801

- CLCKB_HUMAN

UniProt

P51801 - CLCKB_HUMAN

Protein

Chloride channel protein ClC-Kb

Gene

CLCNKB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 3 (09 Feb 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. May be important in urinary concentrating mechanisms.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi259 – 2591CalciumBy similarity
    Metal bindingi261 – 2611CalciumBy similarity
    Metal bindingi278 – 2781CalciumBy similarity
    Metal bindingi281 – 2811CalciumBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. excretion Source: ProtInc
    2. ion transmembrane transport Source: Reactome
    3. regulation of anion transport Source: GOC
    4. transmembrane transport Source: Reactome
    5. transport Source: ProtInc

    Keywords - Molecular functioni

    Chloride channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Calcium, Chloride, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chloride channel protein ClC-Kb
    Short name:
    Chloride channel Kb
    Alternative name(s):
    ClC-K2
    Gene namesi
    Name:CLCNKB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2027. CLCNKB.

    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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Bartter syndrome 3 (BS3) [MIM:607364]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241P → L in BS3. 1 Publication
    VAR_001624
    Natural varianti204 – 2041A → T in BS3. 1 Publication
    VAR_001625
    Natural varianti349 – 3491A → D in BS3. 1 Publication
    VAR_001626
    Natural varianti432 – 4321Y → H in BS3. 1 Publication
    VAR_001627
    Natural varianti438 – 4381R → C in BS3. 1 Publication
    VAR_001628
    Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness.2 Publications
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267).1 Publication

    Keywords - Diseasei

    Bartter syndrome, Deafness, Disease mutation

    Organism-specific databases

    MIMi607364. phenotype.
    613090. phenotype.
    Orphaneti93605. Classic Bartter syndrome.
    358. Gitelman syndrome.
    89938. Infantile Bartter syndrome with deafness.
    PharmGKBiPA26554.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 687687Chloride channel protein ClC-KbPRO_0000094459Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi679 – 6791N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP51801.
    PRIDEiP51801.

    PTM databases

    PhosphoSiteiP51801.

    Expressioni

    Tissue specificityi

    Expressed predominantly in the kidney.1 Publication

    Gene expression databases

    ArrayExpressiP51801.
    BgeeiP51801.
    CleanExiHS_CLCNKB.
    GenevestigatoriP51801.

    Interactioni

    Subunit structurei

    Interacts with BSND. Forms heteromers with BSND in the thick ascending limb of Henle and more distal segments By similarity.By similarity

    Protein-protein interaction databases

    BioGridi107602. 1 interaction.
    IntActiP51801. 1 interaction.
    MINTiMINT-7969230.
    STRINGi9606.ENSP00000364831.

    Structurei

    3D structure databases

    ProteinModelPortaliP51801.
    SMRiP51801. Positions 542-687.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5050CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei51 – 7121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei94 – 11421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei161 – 18121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei202 – 22221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei236 – 25621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei325 – 34521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei396 – 41621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei417 – 43721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei452 – 47221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei486 – 50621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini551 – 60959CBS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini626 – 68459CBS 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 CBS domains.PROSITE-ProRule annotation

    Keywords - Domaini

    CBS domain, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0038.
    HOGENOMiHOG000231297.
    HOVERGENiHBG005332.
    InParanoidiP51801.
    KOiK05018.
    OMAiLAFEMTG.
    OrthoDBiEOG77WWCD.
    PhylomeDBiP51801.
    TreeFamiTF300522.

    Family and domain databases

    Gene3Di1.10.3080.10. 2 hits.
    InterProiIPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002250. Cl_channel-K.
    [Graphical view]
    PfamiPF00571. CBS. 2 hits.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view]
    PRINTSiPR00762. CLCHANNEL.
    PR01119. CLCHANNELKDY.
    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: P51801-1) [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

    MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW    50
    YFLMTLGVLM ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP 100
    VALVSFSSGF SQSITPSSGG SGIPEVKTML AGVVLEDYLD IKNFGAKVVG 150
    LSCTLACGST LFLGKVGPFV HLSVMMAAYL GRVRTTTIGE PENKSKQNEM 200
    LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF FAATCGAFMF 250
    RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL 300
    FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS 350
    RLSMKQHLDS LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG 400
    TLAFFLVMKF WMLILATTIP MPAGYFMPIF VYGAAIGRLF GETLSFIFPE 450
    GIVAGGITNP IMPGGYALAG AAAFSGAVTH TISTALLAFE VTGQIVHALP 500
    VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI GSHRVRVEHF 550
    MNHSITTLAK DMPLEEVVKV VTSTDVAKYP LVESTESQIL VGIVRRAQLV 600
    QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL 650
    LNLHSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK 687
    Length:687
    Mass (Da):75,446
    Last modified:February 9, 2010 - v3
    Checksum:i4D28BC19DDD5D412
    GO
    Isoform 2 (identifier: P51801-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-49: MEEFVGLREG...KQKLFRLGED → MPCPPLLSVP...RAHLRSVSPP
         50-218: Missing.
         616-616: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:517
    Mass (Da):56,998
    Checksum:iC2F9D66B22BBD4B1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti609 – 6091S → P in BAG53595. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41F → L.
    Corresponds to variant rs34851419 [ dbSNP | Ensembl ].
    VAR_033770
    Natural varianti27 – 271R → L.2 Publications
    Corresponds to variant rs2015352 [ dbSNP | Ensembl ].
    VAR_046797
    Natural varianti88 – 881S → R.
    Corresponds to variant rs5256 [ dbSNP | Ensembl ].
    VAR_014466
    Natural varianti104 – 1041V → I.
    Corresponds to variant rs35530360 [ dbSNP | Ensembl ].
    VAR_033771
    Natural varianti124 – 1241P → L in BS3. 1 Publication
    VAR_001624
    Natural varianti126 – 1261V → L.
    Corresponds to variant rs5258 [ dbSNP | Ensembl ].
    VAR_046798
    Natural varianti143 – 1431N → H.
    Corresponds to variant rs5259 [ dbSNP | Ensembl ].
    VAR_014467
    Natural varianti204 – 2041A → T in BS3. 1 Publication
    VAR_001625
    Natural varianti214 – 2141A → G.2 Publications
    Corresponds to variant rs1889789 [ dbSNP | Ensembl ].
    VAR_033772
    Natural varianti287 – 2871A → V.3 Publications
    Corresponds to variant rs34188929 [ dbSNP | Ensembl ].
    VAR_069104
    Natural varianti334 – 3341V → L.
    Corresponds to variant rs5251 [ dbSNP | Ensembl ].
    VAR_014468
    Natural varianti349 – 3491A → D in BS3. 1 Publication
    VAR_001626
    Natural varianti395 – 3951R → W.
    Corresponds to variant rs34255952 [ dbSNP | Ensembl ].
    VAR_046799
    Natural varianti419 – 4191I → V.
    Corresponds to variant rs6650119 [ dbSNP | Ensembl ].
    VAR_033773
    Natural varianti432 – 4321Y → H in BS3. 1 Publication
    VAR_001627
    Natural varianti438 – 4381R → C in BS3. 1 Publication
    VAR_001628
    Natural varianti481 – 4811T → S.
    Corresponds to variant rs12140311 [ dbSNP | Ensembl ].
    VAR_046800
    Natural varianti562 – 5621M → T.2 Publications
    Corresponds to variant rs5253 [ dbSNP | Ensembl ].
    VAR_014469
    Natural varianti578 – 5781K → E.2 Publications
    Corresponds to variant rs2275166 [ dbSNP | Ensembl ].
    VAR_024409
    Natural varianti660 – 6601S → L.
    Corresponds to variant rs5255 [ dbSNP | Ensembl ].
    VAR_046801

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4949MEEFV…RLGED → MPCPPLLSVPVRAAGEQDRW VREEVTWGGGPTVTGGWGWR AHLRSVSPP in isoform 2. 1 PublicationVSP_045965Add
    BLAST
    Alternative sequencei50 – 218169Missing in isoform 2. 1 PublicationVSP_045966Add
    BLAST
    Alternative sequencei616 – 6161Missing in isoform 2. 1 PublicationVSP_045967

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z30644 mRNA. Translation: CAA83121.1.
    S80315 mRNA. Translation: AAB35898.1.
    AK098217 mRNA. Translation: BAG53595.1.
    AL355994 Genomic DNA. Translation: CAI16140.1.
    AL355994 Genomic DNA. Translation: CAI16141.1.
    U93879 Genomic DNA. Translation: AAB65149.1.
    CCDSiCCDS168.1. [P51801-1]
    CCDS57974.1. [P51801-2]
    PIRiD57713.
    RefSeqiNP_000076.2. NM_000085.4. [P51801-1]
    NP_001159417.2. NM_001165945.2. [P51801-2]
    UniGeneiHs.352243.

    Genome annotation databases

    EnsembliENST00000375667; ENSP00000364819; ENSG00000184908. [P51801-2]
    ENST00000375679; ENSP00000364831; ENSG00000184908. [P51801-1]
    GeneIDi1188.
    KEGGihsa:1188.
    UCSCiuc001axx.5. human. [P51801-1]

    Polymorphism databases

    DMDMi288558843.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z30644 mRNA. Translation: CAA83121.1 .
    S80315 mRNA. Translation: AAB35898.1 .
    AK098217 mRNA. Translation: BAG53595.1 .
    AL355994 Genomic DNA. Translation: CAI16140.1 .
    AL355994 Genomic DNA. Translation: CAI16141.1 .
    U93879 Genomic DNA. Translation: AAB65149.1 .
    CCDSi CCDS168.1. [P51801-1 ]
    CCDS57974.1. [P51801-2 ]
    PIRi D57713.
    RefSeqi NP_000076.2. NM_000085.4. [P51801-1 ]
    NP_001159417.2. NM_001165945.2. [P51801-2 ]
    UniGenei Hs.352243.

    3D structure databases

    ProteinModelPortali P51801.
    SMRi P51801. Positions 542-687.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107602. 1 interaction.
    IntActi P51801. 1 interaction.
    MINTi MINT-7969230.
    STRINGi 9606.ENSP00000364831.

    Chemistry

    GuidetoPHARMACOLOGYi 701.

    PTM databases

    PhosphoSitei P51801.

    Polymorphism databases

    DMDMi 288558843.

    Proteomic databases

    PaxDbi P51801.
    PRIDEi P51801.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375667 ; ENSP00000364819 ; ENSG00000184908 . [P51801-2 ]
    ENST00000375679 ; ENSP00000364831 ; ENSG00000184908 . [P51801-1 ]
    GeneIDi 1188.
    KEGGi hsa:1188.
    UCSCi uc001axx.5. human. [P51801-1 ]

    Organism-specific databases

    CTDi 1188.
    GeneCardsi GC01P016370.
    H-InvDB HIX0020336.
    HGNCi HGNC:2027. CLCNKB.
    MIMi 602023. gene.
    607364. phenotype.
    613090. phenotype.
    neXtProti NX_P51801.
    Orphaneti 93605. Classic Bartter syndrome.
    358. Gitelman syndrome.
    89938. Infantile Bartter syndrome with deafness.
    PharmGKBi PA26554.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0038.
    HOGENOMi HOG000231297.
    HOVERGENi HBG005332.
    InParanoidi P51801.
    KOi K05018.
    OMAi LAFEMTG.
    OrthoDBi EOG77WWCD.
    PhylomeDBi P51801.
    TreeFami TF300522.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii CLCNKB.
    GenomeRNAii 1188.
    NextBioi 4918.
    PROi P51801.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51801.
    Bgeei P51801.
    CleanExi HS_CLCNKB.
    Genevestigatori P51801.

    Family and domain databases

    Gene3Di 1.10.3080.10. 2 hits.
    InterProi IPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002250. Cl_channel-K.
    [Graphical view ]
    Pfami PF00571. CBS. 2 hits.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view ]
    PRINTSi PR00762. CLCHANNEL.
    PR01119. CLCHANNELKDY.
    SMARTi SM00116. CBS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF81340. SSF81340. 2 hits.
    PROSITEi PS51371. CBS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Two highly homologous members of the ClC chloride channel family in both rat and human kidney."
      Kieferle S., Fong P., Bens M., Vandewalle A., Jentsch T.
      Proc. Natl. Acad. Sci. U.S.A. 91:6943-6947(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS LEU-27; GLY-214; VAL-287; THR-562 AND GLU-578.
      Tissue: Kidney.
    2. "Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney."
      Takeuchi Y., Uchida S., Marumo F., Sasaki S.
      Kidney Int. 48:1497-1503(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS LEU-27; GLY-214; VAL-287; THR-562 AND GLU-578.
      Tissue: Kidney.
    3. "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] (ISOFORM 2), VARIANT VAL-287.
      Tissue: Uterus.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Refined chromosomal localization of six human CLCN chloride ion channel genes."
      Schutte B.C., Malik M.I., Fingert J., Barna T.J., Stone E., Lamb F.S.
      Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 153-203.
    6. "Barttin is a Cl- channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion."
      Estevez R., Boettger T., Stein V., Birkenhaeger R., Otto E., Hildebrandt F., Jentsch T.J.
      Nature 414:558-561(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTIONAL CHARACTERIZATION, TISSUE SPECIFICITY.
    7. Cited for: INVOLVEMENT IN BS4B.
    8. "Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness."
      Nozu K., Inagaki T., Fu X.J., Nozu Y., Kaito H., Kanda K., Sekine T., Igarashi T., Nakanishi K., Yoshikawa N., Iijima K., Matsuo M.
      J. Med. Genet. 45:182-186(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BS4B.
    9. Cited for: VARIANTS BS3 LEU-124; THR-204; ASP-349; HIS-432 AND CYS-438.

    Entry informationi

    Entry nameiCLCKB_HUMAN
    AccessioniPrimary (citable) accession number: P51801
    Secondary accession number(s): B3KUY3, Q5T5Q7, Q5T5Q8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: February 9, 2010
    Last modified: October 1, 2014
    This is version 138 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

    Compared with CLCNKA/BSND, CLCNKB/BSND is more sensitive to pH and less responsive to Ca2+.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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