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P51800

- CLCKA_HUMAN

UniProt

P51800 - CLCKA_HUMAN

Protein

Chloride channel protein ClC-Ka

Gene

CLCNKA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      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.

    Sites

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

    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-Ka
    Short name:
    Chloride channel Ka
    Alternative name(s):
    ClC-K1
    Gene namesi
    Name:CLCNKA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2026. CLCNKA.

    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

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti80 – 801W → C in BS4B; a patient also carrying a mutation in CLCNKB. 1 Publication
    VAR_063074

    Keywords - Diseasei

    Bartter syndrome, Deafness, Disease mutation

    Organism-specific databases

    MIMi613090. phenotype.
    Orphaneti89938. Infantile Bartter syndrome with deafness.
    PharmGKBiPA26553.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 687687Chloride channel protein ClC-KaPRO_0000094455Add
    BLAST

    Proteomic databases

    PaxDbiP51800.
    PRIDEiP51800.

    PTM databases

    PhosphoSiteiP51800.

    Expressioni

    Tissue specificityi

    Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins.1 Publication

    Gene expression databases

    BgeeiP51800.
    CleanExiHS_CLCNKA.
    GenevestigatoriP51800.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with BSND. Forms heteromers with BSND in the thin ascending limb of Henle By similarity.By similarity

    Protein-protein interaction databases

    DIPiDIP-29432N.
    STRINGi9606.ENSP00000332771.

    Structurei

    Secondary structure

    1
    687
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi547 – 5504
    Helixi564 – 5729
    Beta strandi577 – 5837
    Turni585 – 5873
    Beta strandi589 – 5957
    Helixi596 – 6049
    Helixi618 – 6236
    Helixi641 – 65010
    Beta strandi654 – 6607
    Beta strandi663 – 6697
    Helixi670 – 68112

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2PFIX-ray1.60A/B533-687[»]
    ProteinModelPortaliP51800.
    SMRiP51800. Positions 52-687.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP51800.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini507 – 687181CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei52 – 7221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei161 – 18121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei202 – 22221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei236 – 25621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei329 – 34921HelicalSequence 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.
    InParanoidiP51800.
    KOiK05017.
    OMAiVGHFLAS.
    OrthoDBiEOG77WWCD.
    PhylomeDBiP51800.
    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. 1 hit.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view]
    PRINTSiPR00762. CLCHANNEL.
    PR01119. CLCHANNELKDY.
    SMARTiSM00116. CBS. 1 hit.
    [Graphical view]
    SUPFAMiSSF81340. SSF81340. 2 hits.
    PROSITEiPS51371. CBS. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51800-1) [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

    MEELVGLREG FSGDPVTLQE LWGPCPHIRR AIQGGLEWLK QKVFRLGEDW    50
    YFLMTLGVLM ALVSYAMNFA IGCVVRAHQW LYREIGDSHL LRYLSWTVYP 100
    VALVSFSSGF SQSITPSSGG SGIPELKTML AGVILEDYLD IKNFGAKVVG 150
    LSCTLATGST LFLGKVGPFV HLSVMIAAYL GRVRTTTIGE PENKSKQNEM 200
    LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVRDYWRGF FAATCGAFIF 250
    RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG ICGVLSCAYL 300
    FCQRTFLSFI KTNRYSSKLL ATSKPVYSAL ATLLLASITY PPGVGHFLAS 350
    RLSMKQHLDS LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG 400
    TLAFFLVMKF WMLILATTIP MPAGYFMPIF ILGAAIGRLL GEALAVAFPE 450
    GIVTGGVTNP IMPGGYALAG AAAFSGAVTH TISTALLAFE LTGQIVHALP 500
    VLMAVLAANA IAQSCQPSFY DGTIIVKKLP YLPRILGRNI GSHHVRVEHF 550
    MNHSITTLAK DTPLEEVVKV VTSTDVTEYP LVESTESQIL VGIVQRAQLV 600
    QALQAEPPSR APGHQQCLQD ILARGCPTEP VTLTLFSETT LHQAQNLFKL 650
    LNLQSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK 687
    Length:687
    Mass (Da):75,285
    Last modified:October 1, 1996 - v1
    Checksum:iE97C6928470A4460
    GO
    Isoform 2 (identifier: P51800-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         77-119: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:644
    Mass (Da):70,458
    Checksum:i0ADDA2F448320E16
    GO
    Isoform 3 (identifier: P51800-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         615-615: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:686
    Mass (Da):75,157
    Checksum:iDF721CCFE6735ED2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 281I → V in BAG60545. (PubMed:14702039)Curated
    Sequence conflicti451 – 4511G → D in BAG60545. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81R → H.
    Corresponds to variant rs9442189 [ dbSNP | Ensembl ].
    VAR_048695
    Natural varianti45 – 451R → H.
    Corresponds to variant rs35932996 [ dbSNP | Ensembl ].
    VAR_033768
    Natural varianti67 – 671M → I.1 Publication
    Corresponds to variant rs17855678 [ dbSNP | Ensembl ].
    VAR_030784
    Natural varianti80 – 801W → C in BS4B; a patient also carrying a mutation in CLCNKB. 1 Publication
    VAR_063074
    Natural varianti83 – 831R → G.1 Publication
    Corresponds to variant rs10927887 [ dbSNP | Ensembl ].
    VAR_019787
    Natural varianti287 – 2871A → V.
    Corresponds to variant rs34188929 [ dbSNP | Ensembl ].
    VAR_033769
    Natural varianti315 – 3151Y → F.1 Publication
    Corresponds to variant rs12126269 [ dbSNP | Ensembl ].
    VAR_019788
    Natural varianti357 – 3571H → Q.1 Publication
    Corresponds to variant rs79751787 [ dbSNP | Ensembl ].
    VAR_068971
    Natural varianti447 – 4471A → T.2 Publications
    Corresponds to variant rs1805152 [ dbSNP | Ensembl ].
    VAR_014465
    Natural varianti534 – 5341R → W.
    Corresponds to variant rs12140223 [ dbSNP | Ensembl ].
    VAR_059209
    Natural varianti683 – 6831P → L.
    Corresponds to variant rs12746751 [ dbSNP | Ensembl ].
    VAR_061095

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei77 – 11943Missing in isoform 2. 1 PublicationVSP_044700Add
    BLAST
    Alternative sequencei615 – 6151Missing in isoform 3. 2 PublicationsVSP_045795

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z30643 mRNA. Translation: CAA83120.1.
    AK298285 mRNA. Translation: BAG60545.1.
    AK225550 mRNA. No translation available.
    AL355994 Genomic DNA. Translation: CAI16137.1.
    AL355994 Genomic DNA. Translation: CAI16138.1.
    BC048282 mRNA. Translation: AAH48282.1.
    BC053869 mRNA. Translation: AAH53869.1.
    U93878 Genomic DNA. Translation: AAB65148.1.
    CCDSiCCDS167.1. [P51800-1]
    CCDS41269.1. [P51800-3]
    CCDS57973.1. [P51800-2]
    PIRiC57713.
    RefSeqiNP_001036169.1. NM_001042704.1. [P51800-3]
    NP_001244068.1. NM_001257139.1. [P51800-2]
    NP_004061.3. NM_004070.3. [P51800-1]
    UniGeneiHs.591533.

    Genome annotation databases

    EnsembliENST00000331433; ENSP00000332771; ENSG00000186510. [P51800-1]
    ENST00000375692; ENSP00000364844; ENSG00000186510. [P51800-3]
    ENST00000439316; ENSP00000414445; ENSG00000186510. [P51800-2]
    GeneIDi1187.
    KEGGihsa:1187.
    UCSCiuc001axu.3. human. [P51800-1]
    uc001axv.3. human.

    Polymorphism databases

    DMDMi1705857.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z30643 mRNA. Translation: CAA83120.1 .
    AK298285 mRNA. Translation: BAG60545.1 .
    AK225550 mRNA. No translation available.
    AL355994 Genomic DNA. Translation: CAI16137.1 .
    AL355994 Genomic DNA. Translation: CAI16138.1 .
    BC048282 mRNA. Translation: AAH48282.1 .
    BC053869 mRNA. Translation: AAH53869.1 .
    U93878 Genomic DNA. Translation: AAB65148.1 .
    CCDSi CCDS167.1. [P51800-1 ]
    CCDS41269.1. [P51800-3 ]
    CCDS57973.1. [P51800-2 ]
    PIRi C57713.
    RefSeqi NP_001036169.1. NM_001042704.1. [P51800-3 ]
    NP_001244068.1. NM_001257139.1. [P51800-2 ]
    NP_004061.3. NM_004070.3. [P51800-1 ]
    UniGenei Hs.591533.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2PFI X-ray 1.60 A/B 533-687 [» ]
    ProteinModelPortali P51800.
    SMRi P51800. Positions 52-687.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-29432N.
    STRINGi 9606.ENSP00000332771.

    Chemistry

    DrugBanki DB04552. Niflumic Acid.
    GuidetoPHARMACOLOGYi 700.

    PTM databases

    PhosphoSitei P51800.

    Polymorphism databases

    DMDMi 1705857.

    Proteomic databases

    PaxDbi P51800.
    PRIDEi P51800.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331433 ; ENSP00000332771 ; ENSG00000186510 . [P51800-1 ]
    ENST00000375692 ; ENSP00000364844 ; ENSG00000186510 . [P51800-3 ]
    ENST00000439316 ; ENSP00000414445 ; ENSG00000186510 . [P51800-2 ]
    GeneIDi 1187.
    KEGGi hsa:1187.
    UCSCi uc001axu.3. human. [P51800-1 ]
    uc001axv.3. human.

    Organism-specific databases

    CTDi 1187.
    GeneCardsi GC01P016345.
    HGNCi HGNC:2026. CLCNKA.
    MIMi 602024. gene.
    613090. phenotype.
    neXtProti NX_P51800.
    Orphaneti 89938. Infantile Bartter syndrome with deafness.
    PharmGKBi PA26553.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0038.
    HOGENOMi HOG000231297.
    HOVERGENi HBG005332.
    InParanoidi P51800.
    KOi K05017.
    OMAi VGHFLAS.
    OrthoDBi EOG77WWCD.
    PhylomeDBi P51800.
    TreeFami TF300522.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    EvolutionaryTracei P51800.
    GeneWikii CLCNKA.
    GenomeRNAii 1187.
    NextBioi 4912.
    PROi P51800.
    SOURCEi Search...

    Gene expression databases

    Bgeei P51800.
    CleanExi HS_CLCNKA.
    Genevestigatori P51800.

    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. 1 hit.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view ]
    PRINTSi PR00762. CLCHANNEL.
    PR01119. CLCHANNELKDY.
    SMARTi SM00116. CBS. 1 hit.
    [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).
      Tissue: Kidney.
    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] (ISOFORM 2), VARIANT THR-447.
      Tissue: Kidney.
    3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS GLY-83; GLN-357 AND THR-447.
      Tissue: Kidney.
    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. "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] (ISOFORMS 1 AND 3), VARIANTS ILE-67 AND PHE-315.
      Tissue: Colon.
    6. "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.
    7. "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: TISSUE SPECIFICITY.
    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. "Dissecting a regulatory calcium-binding site of CLC-K kidney chloride channels."
      Gradogna A., Fenollar-Ferrer C., Forrest L.R., Pusch M.
      J. Gen. Physiol. 140:681-696(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: CALCIUM-BINDING SITES.
    10. "The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface."
      Markovic S., Dutzler R.
      Structure 15:715-725(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 533-687, SUBUNIT.
    11. Cited for: VARIANT BS4B CYS-80.

    Entry informationi

    Entry nameiCLCKA_HUMAN
    AccessioniPrimary (citable) accession number: P51800
    Secondary accession number(s): B4DPD3
    , E7EPH6, Q5T5P8, Q5T5Q4, Q7Z6D1, Q86VT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 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

    Keywords - Technical termi

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3