title: The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.
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.
authors.affiliation: School of Biomedicine, The University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Geoffrey J
authors.initials: GJ
authors.lastname: Maher
authors.forename: Emma N
authors.initials: EN
authors.lastname: Hilton
authors.forename: Jill E
authors.initials: JE
authors.lastname: Urquhart
authors.forename: Alice E
authors.initials: AE
authors.lastname: Davidson
authors.forename: Helen L
authors.initials: HL
authors.lastname: Spencer
authors.forename: Graeme C
authors.initials: GC
authors.lastname: Black
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Manson
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015220:Calcium Channels / Q000235:genetics / Q000378:metabolism; D002386:Cataract / Q000235:genetics; D002460:Cell Line; D057167:Claudins / Q000235:genetics / Q000378:metabolism*; D004625:Embryo, Nonmammalian / Q000033:anatomy & histology / Q000502:physiology; D005123:Eye / Q000196:embryology / Q000254:growth & development / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008562:Membrane Glycoproteins / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D008565:Membrane Proteins / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D008969:Molecular Sequence Data; D010802:Phylogeny; D016415:Sequence Alignment; D014981:Xenopus
chemical_list: D015220:Calcium Channels; D057167:Claudins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; C523698:TMEM114 protein, human; C561459:TMEM235 protein, human