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P51801

- CLCKB_HUMAN

UniProt

P51801 - CLCKB_HUMAN

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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

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
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-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

Topology

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

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

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

BgeeiP51801.
CleanExiHS_CLCNKB.
ExpressionAtlasiP51801. baseline and differential.
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...

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.
GeneTreeiENSGT00760000119109.
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

        10         20         30         40         50
MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW
60 70 80 90 100
YFLMTLGVLM ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP
110 120 130 140 150
VALVSFSSGF SQSITPSSGG SGIPEVKTML AGVVLEDYLD IKNFGAKVVG
160 170 180 190 200
LSCTLACGST LFLGKVGPFV HLSVMMAAYL GRVRTTTIGE PENKSKQNEM
210 220 230 240 250
LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF FAATCGAFMF
260 270 280 290 300
RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL
310 320 330 340 350
FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS
360 370 380 390 400
RLSMKQHLDS LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG
410 420 430 440 450
TLAFFLVMKF WMLILATTIP MPAGYFMPIF VYGAAIGRLF GETLSFIFPE
460 470 480 490 500
GIVAGGITNP IMPGGYALAG AAAFSGAVTH TISTALLAFE VTGQIVHALP
510 520 530 540 550
VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI GSHRVRVEHF
560 570 580 590 600
MNHSITTLAK DMPLEEVVKV VTSTDVAKYP LVESTESQIL VGIVRRAQLV
610 620 630 640 650
QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL
660 670 680
LNLHSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00760000119109.
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

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

Gene expression databases

Bgeei P51801.
CleanExi HS_CLCNKB.
ExpressionAtlasi P51801. baseline and differential.
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

« 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), 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: November 26, 2014
This is version 140 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