Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
J Physiol
2004 Jun 01;557Pt 2:363-78. doi: 10.1113/jphysiol.2003.058453.
Show Gene links
Show Anatomy links
Functional and structural conservation of CBS domains from CLC chloride channels.
Estévez R
,
Pusch M
,
Ferrer-Costa C
,
Orozco M
,
Jentsch TJ
.
???displayArticle.abstract???
All eukaryotic CLC Cl(-) channel subunits possess a long cytoplasmic carboxy-terminus that contains two so-called CBS (cystathionine beta-synthase) domains. These domains are found in various unrelated proteins from all phylae. The crystal structure of the CBS domains of inosine monophosphate dehydrogenase (IMPDH) is known, but it is not known whether this structure is conserved in CLC channels. Working primarily with ClC-1, we used deletion scanning mutagenesis, coimmunoprecipitation and electrophysiology to demonstrate that its CBS domains interact. The replacement of CBS domains of ClC-1 with the corresponding CBS domains from other CLC channels and even human IMPDH yielded functional channels, indicating a high degree of structural conservation. Based on a homology model of the pair of CBS domains of CLC channels, we identified some residues that, when mutated, affected the common gate which acts on both pores of the dimeric channel. Thus, we propose that the structure of CBS domains from CLC channels is highly conserved and that they play a functional role in the common gate.
Bateman,
The structure of a domain common to archaebacteria and the homocystinuria disease protein.
1997, Pubmed
Bateman,
The structure of a domain common to archaebacteria and the homocystinuria disease protein.
1997,
Pubmed
Bauer,
Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA.
1991,
Pubmed
,
Xenbase
Birkenhäger,
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
2001,
Pubmed
Blair,
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
2001,
Pubmed
Bowne,
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
2002,
Pubmed
Carr,
A role for CBS domain 2 in trafficking of chloride channel CLC-5.
2003,
Pubmed
Chen,
Extracellular zinc ion inhibits ClC-0 chloride channels by facilitating slow gating.
1998,
Pubmed
,
Xenbase
Chen,
Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel.
1996,
Pubmed
Cleiren,
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
2001,
Pubmed
Duffield,
Involvement of helices at the dimer interface in ClC-1 common gating.
2003,
Pubmed
Dutzler,
X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity.
2002,
Pubmed
Dutzler,
Gating the selectivity filter in ClC chloride channels.
2003,
Pubmed
,
Xenbase
Estévez,
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
2001,
Pubmed
,
Xenbase
Estévez,
CLC chloride channels: correlating structure with function.
2002,
Pubmed
Estévez,
Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
2003,
Pubmed
,
Xenbase
Fong,
Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata.
1998,
Pubmed
,
Xenbase
Gentzsch,
The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins.
2003,
Pubmed
Hryciw,
Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.
1998,
Pubmed
Jentsch,
The CLC chloride channel family.
1999,
Pubmed
Jhee,
Domain architecture of the heme-independent yeast cystathionine beta-synthase provides insights into mechanisms of catalysis and regulation.
2000,
Pubmed
Kennan,
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
2002,
Pubmed
Koch,
The skeletal muscle chloride channel in dominant and recessive human myotonia.
1992,
Pubmed
Kornak,
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
2001,
Pubmed
Lin,
Elimination of the slow gating of ClC-0 chloride channel by a point mutation.
1999,
Pubmed
,
Xenbase
Lloyd,
A common molecular basis for three inherited kidney stone diseases.
1996,
Pubmed
,
Xenbase
Ludewig,
Analysis of a protein region involved in permeation and gating of the voltage-gated Torpedo chloride channel ClC-0.
1997,
Pubmed
,
Xenbase
Ludewig,
Two physically distinct pores in the dimeric ClC-0 chloride channel.
1996,
Pubmed
,
Xenbase
Maduke,
Formation of CLC-0 chloride channels from separated transmembrane and cytoplasmic domains.
1998,
Pubmed
,
Xenbase
Matsumura,
Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel.
1999,
Pubmed
Middleton,
Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax.
1994,
Pubmed
Middleton,
Homodimeric architecture of a ClC-type chloride ion channel.
1996,
Pubmed
Milan,
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
2000,
Pubmed
Miller,
Dimeric structure of single chloride channels from Torpedo electroplax.
1984,
Pubmed
Ogura,
ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC.
2002,
Pubmed
Piwon,
ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.
2000,
Pubmed
Ponting,
CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones).
1997,
Pubmed
Pusch,
Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.
1995,
Pubmed
,
Xenbase
Pusch,
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
1995,
Pubmed
Pusch,
Chloride dependence of hyperpolarization-activated chloride channel gates.
1999,
Pubmed
,
Xenbase
Pusch,
Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels.
1997,
Pubmed
,
Xenbase
Pusch,
Mechanism of block of single protopores of the Torpedo chloride channel ClC-0 by 2-(p-chlorophenoxy)butyric acid (CPB).
2001,
Pubmed
,
Xenbase
Richard,
Steady-state coupling of ion-channel conformations to a transmembrane ion gradient.
1990,
Pubmed
Sali,
Comparative protein modelling by satisfaction of spatial restraints.
1993,
Pubmed
Saviane,
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia.
1999,
Pubmed
,
Xenbase
Schmidt-Rose,
Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1.
1997,
Pubmed
,
Xenbase
Schwake,
Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.
2000,
Pubmed
,
Xenbase
Schwake,
An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.
2001,
Pubmed
,
Xenbase
Schwappach,
Golgi localization and functionally important domains in the NH2 and COOH terminus of the yeast CLC putative chloride channel Gef1p.
1998,
Pubmed
Shan,
Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
2001,
Pubmed
Shan,
Correction of disease-causing CBS mutations in yeast.
1998,
Pubmed
Simon,
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
1997,
Pubmed
Sintchak,
Structure and mechanism of inosine monophosphate dehydrogenase in complex with the immunosuppressant mycophenolic acid.
1996,
Pubmed
Sippl,
Recognition of errors in three-dimensional structures of proteins.
1993,
Pubmed
Steinmeyer,
Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
1991,
Pubmed
Stobrawa,
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.
2001,
Pubmed
Weinreich,
Pores formed by single subunits in mixed dimers of different CLC chloride channels.
2001,
Pubmed
Zerangue,
A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels.
1999,
Pubmed
,
Xenbase
Zhang,
Characteristics and crystal structure of bacterial inosine-5'-monophosphate dehydrogenase.
1999,
Pubmed
