Abstract
A novel gene, TMEM114, was annotated as a member of the claudin gene family and was subsequently associated as a cause of autosomal dominant cataract because of a translocation in its putative promoter. Our bioinformatic and molecular analyses of TMEM114, and the closely related TMEM235, demonstrate that these proteins are more closely related to members of the voltage dependent calcium channel gamma subunit family. TMEM114 and TMEM235 differed from claudins in terms of localisation in polarised epithelial cells and by the presence of N-linked glycans. By gene expression knockdown in Xenopus tropicalis we also demonstrate a role for Tmem114 in eye development.
Copyright © 2011 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Calcium Channels / genetics
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Calcium Channels / metabolism
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Cataract / genetics
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Cell Line
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Claudins / genetics
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Claudins / metabolism*
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Embryo, Nonmammalian / anatomy & histology
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Embryo, Nonmammalian / physiology
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Eye / embryology
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Eye / growth & development
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Eye / metabolism
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Eye / pathology
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Humans
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Membrane Glycoproteins / classification
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Membrane Glycoproteins / genetics*
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Membrane Glycoproteins / metabolism*
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Membrane Proteins / classification
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism*
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Molecular Sequence Data
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Phylogeny
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Sequence Alignment
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Xenopus
Substances
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Calcium Channels
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Claudins
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Membrane Glycoproteins
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Membrane Proteins
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TMEM114 protein, human
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TMEM235 protein, human