title: Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein.
abstract: We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectoderm. Within the brain, Clcn3 expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. CLCN3 encodes a 760-amino-acid protein that differs by only 2 amino acid residues from the protein encoded by Clcn3. CLCN3 protein also shows a high similarity with GEF1, an integral membrane protein of the yeast Saccharomyces cerevisiae known to be involved in respiration and iron-limited cell growth, and with the predicted protein product of a DNA sequence from the mold Septoria nodorum. This high degree of sequence conservation in very distantly related species such as human and yeast indicates that this gene has retained a fundamental function throughout evolution.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: G
authors.initials: G
authors.lastname: Borsani
authors.forename: E I
authors.initials: EI
authors.lastname: Rugarli
authors.forename: M
authors.initials: M
authors.lastname: Taglialatela
authors.forename: C
authors.initials: C
authors.lastname: Wong
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D018118:Chloride Channels / Q000378:metabolism; D002712:Chlorides / Q000378:metabolism; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D018076:DNA, Complementary / Q000235:genetics; D005326:Fetal Proteins / Q000235:genetics; D015870:Gene Expression; D005796:Genes; D005800:Genes, Fungal; D006801:Humans; D006822:Hybrid Cells; D017403:In Situ Hybridization; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice / Q000235:genetics* / Q000378:metabolism; D003904:Mitosporic Fungi / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009865:Oocytes / Q000378:metabolism; D009928:Organ Specificity; D018408:Patch-Clamp Techniques; D016133:Polymerase Chain Reaction; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D014404:Tubulin / Q000235:genetics; D014982:Xenopus laevis
chemical_list: D018118:Chloride Channels; D002712:Chlorides; C115376:ClC-3 channel; D018076:DNA, Complementary; D005326:Fetal Proteins; C089713:GEF1 protein, S cerevisiae; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D011993:Recombinant Fusion Proteins; D029701:Saccharomyces cerevisiae Proteins; D014404:Tubulin