Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24.
A novel human Type I procollagen C-proteinase enhancer protein-like gene, PCOLCE2, was identified by sequencing an EST in the primary open-angle glaucoma (POAG) region on 3q21. The total cDNA encoded a 415-amino-acid protein that has 43% identity to the Type I procollagen C-proteinase enhancer protein (PCOLCE1). PCOLCE2 contains two CUB domains, which are thought to be involved in protein-protein interactions, and an NTR module. PCOLCE2 message is expressed in the trabecular meshwork, lungs, heart, brain, liver, skeletal muscle, kidney, pancreas, and placenta as a 2-kb message. PCOLCE2, a 52-kDa protein, is expressed in the trabecular meshwork. A novel gene, PCOLCE2, has been identified and characterized. Based upon its homology with collagen-binding proteins, its expression in the trabecular meshwork, and its chromosome location, PCOLCE2 is a candidate gene for GLC1C. However, no coding sequence mutations were detected in PCOLCE2 in a POAG patient from the GLC1C family.
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Casey Eye Institute, Oregon Health Sciences University, Portland, Oregon, 97201-4197, USA.
Acott
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Wirtz
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D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D020224:Expressed Sequence Tags; D016326:Extracellular Matrix Proteins; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D051379:Mice; D008969:Molecular Sequence Data; D009928:Organ Specificity; D017434:Protein Structure, Tertiary; D012333:RNA, Messenger / Q000096:biosynthesis; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014129:Trabecular Meshwork / Q000378:metabolism
D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D047908:Intracellular Signaling Peptides and Proteins; C491555:PCOLCE protein, human; C491553:PCOLCE2 protein, human; C108243:Pcolce protein, mouse; C491552:Pcolce2 protein, mouse; D012333:RNA, Messenger