Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
Five members of the newly identified chloride intracellular channel (CLIC) gene family of intracellular chloride channels (CLIC1-CLIC5) have previously been described in humans. Here we report the molecular cloning and initial characterisation of two splice forms of a novel member of this family, CLIC6, mapping to human chromosome 21. Two essential features distinguish CLIC6 from other members of the family. The CLIC6 protein is significantly longer and the CLIC6 gene contains a GC rich segment, which encodes a 10 amino acid motif repeated 14 times in the amino-terminus. Surprisingly, the repeat is conserved in the lagomorphs, but not in the rodents lineage. The putative bovine orthologue of CLIC5, p64, also exhibits a repeated motif, which is different from that of CLIC6. Attempts to functionally characterise CLIC6 by voltage clamp failed to show any chloride channel activity. Hence, the exact function of this protein remains unknown.
Friedli
Marc
M
Division of Medical Genetics, Centre Médical Universitaire, University of Geneva Medical School, 1 rue Michel-Servet, CH-1211 Geneva 4, Switzerland.
Guipponi
Michel
M
Bertrand
Sonia
S
Bertrand
Daniel
D
Neerman-Arbez
Marguerite
M
Scott
Hamish S
HS
Antonarakis
Stylianos E
SE
Reymond
Alexandre
A
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002460:Cell Line; D018118:Chloride Channels / Q000235:genetics*; D002522:Chlorocebus aethiops; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D015870:Gene Expression; D049452:Green Fluorescent Proteins; D006801:Humans; D008164:Luminescent Proteins / Q000235:genetics / Q000378:metabolism; D008564:Membrane Potentials / Q000502:physiology; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008815:Mice, Inbred Strains; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D009865:Oocytes / Q000378:metabolism / Q000502:physiology; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014162:Transfection; D014981:Xenopus
C480840:CLIC6 protein, human; C480841:CLIC6 protein, mouse; D018118:Chloride Channels; D018076:DNA, Complementary; D008164:Luminescent Proteins; D011993:Recombinant Fusion Proteins; D049452:Green Fluorescent Proteins