RGD Reference Report - Barttin increases surface expression and changes current properties of ClC-K channels. - Rat Genome Database

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Barttin increases surface expression and changes current properties of ClC-K channels.

Authors: Waldegger, S  Jeck, N  Barth, P  Peters, M  Vitzthum, H  Wolf, K  Kurtz, A  Konrad, M  Seyberth, HW 
Citation: Waldegger S, etal., Pflugers Arch 2002 Jun;444(3):411-8.
RGD ID: 632278
Pubmed: PMID:12111250   (View Abstract at PubMed)
DOI: DOI:10.1007/s00424-002-0819-8   (Journal Full-text)

The term Bartter syndrome encompasses a heterogeneous group of autosomal recessive salt-losing nephropathies that are caused by disturbed transepithelial sodium chloride reabsorption in the distal nephron. Mutations have been identified in the NKCC2 (Na(+)-K(+)-2Cl(-)) cotransporter and ROMK potassium channel, which cooperate in the process of apical sodium chloride uptake, and ClC-Kb chloride channels, which mediate basolateral chloride release. Recently, mutations in barttin, a protein not related to any known ion transporter or channel, were described in BSND, a variant of Bartter syndrome associated with sensorineural deafness. Here we show that barttin functions as an activator of ClC-K chloride channels. Expression of barttin together with ClC-K in Xenopus oocytes increased ClC-K current amplitude, changed ClC-K biophysical properties, and enhanced ClC-K abundance in the cell membrane. Co-immunoprecipitation revealed a direct interaction of barttin with ClC-K. We performed in situ hybridization on rat kidney slices and RT-PCR analysis on microdissected nephron segments to prove co-expression of barttin, ClC-K1 and ClC-K2 along the distal nephron. Functional analysis of BSND-associated point mutations revealed impaired ClC-K activation by barttin. The results demonstrate regulation of a CLC chloride channel by an accessory protein and indicate that ClC-K activation by barttin is required for adequate tubular salt reabsorption.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chloride transport  IMP 632278 RGD 

Molecular Function
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chloride channel regulator activity  IMP 632278 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Bsnd  (barttin CLCNK type accessory subunit beta)


Additional Information