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P51800

- CLCKA_HUMAN

UniProt

P51800 - CLCKA_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei52 – 7221Helical; Reviewed predictionAdd
BLAST
Transmembranei161 – 18121Helical; Reviewed predictionAdd
BLAST
Transmembranei202 – 22221Helical; Reviewed predictionAdd
BLAST
Transmembranei236 – 25621Helical; Reviewed predictionAdd
BLAST
Transmembranei282 – 30221Helical; Reviewed predictionAdd
BLAST
Transmembranei329 – 34921Helical; Reviewed predictionAdd
BLAST
Transmembranei396 – 41621Helical; Reviewed predictionAdd
BLAST
Transmembranei417 – 43721Helical; Reviewed predictionAdd
BLAST
Transmembranei452 – 47221Helical; Reviewed predictionAdd
BLAST
Transmembranei486 – 50621Helical; Reviewed predictionAdd
BLAST
Topological domaini507 – 687181Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. integral component of plasma membrane Source: ProtInc
  3. plasma membrane Source: Reactome
Complete GO annotation...

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.
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 (1 Publication).2 Publications
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.1 Publication

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.

Miscellaneous databases

EvolutionaryTraceiP51800.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini551 – 60959CBS 1Add
BLAST
Domaini626 – 68459CBS 2Add
BLAST

Sequence similaritiesi

Contains 2 CBS domains.

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

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. VSP_044700Add
BLAST
Alternative sequencei615 – 6151Missing in isoform 3. VSP_045795

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti28 – 281I → V in BAG60545. 1 Publication
Sequence conflicti451 – 4511G → D in BAG60545. 1 Publication

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]
ENST00000420078; ENSP00000410353; 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 ]
ENST00000420078 ; ENSP00000410353 ; 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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 136 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

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