ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins 英文参考文献.docVIP

/2002/3/6/research/0027.1 Research ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins Lars Hjelmqvist*?? Miquel Tuson*? Gemma Marfany*, Enric Herrero§, Susana Balcells* and Roser Gonzàlez-Duarte* Addresses: *Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain. §Departament de Ciències Mèdiques Bàsiques, Facultat de Medicina, Universitat de Lleida, 25198 Lleida, Spain. ?Current address: Karolinska Institutet, MBB, Chemistry I, S-171 77 Stockholm, Sweden. ?Both authors contributed equally to this work. Correspondence: Roser Gonzàlez-Duarte. E-mail: roser@bio.ub.es Published: 14 May 2002 Received: 10 January 2002 Revised: 12 March 2002 Accepted: 10 April 2002 GenomeBiology 2002, 3(6):research0027.1–0027.16 The electronic version of this article is the complete one and can be found online at /2002/3/6/research/0027 ? 2002 Hjelmqvist et al., licensee BioMed Central Ltd (Print ISSN 1465-6906; Online ISSN 1465-6914) Abstract Background: Annotations of completely sequenced genomes reveal that nearly half of the genes identified are of unknown function, and that some belong to uncharacterized gene families. To help resolve such issues, information can be obtained from the comparative analysis of homologous genes in model organisms. Results: While characterizing genes from the retinitis pigmentosa locus RP26 at 2q31-q33, we have identified a new gene, ORMDL1, that belongs to a novel gene family comprising three genes in humans (ORMDL1, ORMDL2 and ORMDL3), and homologs in yeast, microsporidia, plants, Drosophila, urochordates and vertebrates. The human genes are expressed ubiquitously in adult and fetal tissues. The Drosophila ORMDL homolog is also expressed throughout embryonic and larval stages, particularly in ectodermally derived tissues. The ORMDL genes encode transmembrane proteins anchored in