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首页> 外文期刊>Genomics >Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins.
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Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins.

机译：人视网膜特异性基因MPP4的克隆和鉴定，该基因是MAGUK蛋白p55亚家族的新成员。

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To identify novel retina-specific genes systematically, we are performing expression profiling of retina ESTs that have been assembled in the human UniGene clusters. In this study, we report the 2619-bp full-length cDNA cloning and genomic organization of a gene corresponding to an EST cluster that was demonstrated to be exclusively present in retinal tissue. Alignment of the deduced amino acid sequence to sequence from protein databases revealed this gene, termed MPP4, to be a member of the membrane-associated guanylate kinase (MAGUK) protein family. It consists of 637 amino acids and contains the characteristic MAGUK motifs: an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. Due to the presence of only one PDZ motif, MPP4 is part of the p55 subfamily, named after the major palmitoylated erythrocyte membrane protein p55/MPP1. MAGUK proteins serve as molecular scaffolds to coordinate the membrane-associated cytoskeleton, ion channel and receptor clustering, signaling pathways, and the formation of cellular junctions. The abundant expression of MPP4 in the human retina suggests an important but so far unknown function in this tissue. Colocalization of MPP4 and autosomal recessive retinitis pigmentosa 26 (RP26) on chromosome 2q31-q33 makes this transcript an attractive candidate for the disease gene. Copyright 2001 Academic Press.
机译：为了系统地识别新的视网膜特异性基因，我们正在对已经在人类UniGene簇中组装的视网膜EST进行表达谱分析。在这项研究中，我们报告了一个2619 bp的全长cDNA克隆和一个基因组的组织，该基因对应于被证明仅存在于视网膜组织中的EST簇。将推导的氨基酸序列与蛋白质数据库中的序列进行比对后发现，这个称为MPP4的基因是膜相关鸟苷酸激酶（MAGUK）蛋白质家族的成员。它由637个氨基酸组成，并包含MAGUK的特征基序：N末端PDZ域，中央src同源3区（SH3）和C末端鸟苷酸激酶样（GUK）域。由于仅存在一个PDZ基序，MPP4是p55亚家族的一部分，以主要的棕榈酰化红细胞膜蛋白p55 / MPP1命名。 MAGUK蛋白充当分子支架，以协调与膜相关的细胞骨架，离子通道和受体的聚集，信号传导途径以及细胞连接的形成。 MPP4在人视网膜中的大量表达表明该组织具有重要但迄今未知的功能。 MPP4和常染色体隐性隐性视网膜色素变性视网膜色素26（RP26）在染色体2q31-q33上的共定位使该转录本成为该疾病基因的诱人候选物。版权所有2001，学术出版社。

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