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TPARM基因的电子鉴定与特征分析

Identification and characterization of TPARM gene in silico.

作者信息

Katoh Masuko, Katoh Masaru

机构信息

M & M Medical BioInformatics, Narashino 275-0022, Japan.

出版信息

Int J Oncol. 2003 Oct;23(4):1213-7.

Abstract

Several tumor suppressor genes are located within human chromosome 11q23 region. We have cloned and characterized MFRP and RNF26 genes at 11q23.3. We also identified and characterized KIAA1735/MTHDIX gene at 11q23.1 and CLDN24 gene at 11q23.2 by using bioinformatics. Here, a novel human gene corresponding to a 5'-truncated FLJ20535 cDNA was identified. FLJ20535 corresponded to nucleotide position 55-2255 of FLJ13859, and nucleotide position 52-2169 of FLJ13859 was the coding region. Because of tetratricopeptide repeat (TPR) and armadillo repeat (ARM) domains within its gene product, the novel human gene was designated TPARM. Mouse E330017O07Rik cDNA was derived from mouse Tparm gene. Human TPARM (705 aa) and mouse Tparm (704 aa), showing 75.4% total-amino-acid identity, consist of TPR domain and three ARM domains. TPR domain of TPARM was most homologous to that of SMAP1, while ARM1-ARM3 domains of TPARM were most homologous to ARM7-ARM9 domains of CTNNB1 (also known as beta-catenin). TPARM might be implicated in the WNT-beta-catenin signaling pathway. TPARM mRNA was expressed in testis, prostate, lung, germinal center B-cells, and also in neuroblastoma, teratocarcinoma, colon cancer, and gastric cancer. Human TPARM gene was found to consist of 22 exons. TPARM gene, located between NCAM1 and DRD2 genes, was mapped to human chromosome 11q23.2. TPARM as well as NCAM1 and DRD2 were predicted to be candidate tumor suppressor genes within the commonly deleted region of malignant melanoma on 11q23.1-q23.2 (between microsatellite markers D11S1347 and D11S4122).

摘要

几个肿瘤抑制基因位于人类11号染色体q23区域。我们已经克隆并鉴定了位于11q23.3的MFRP和RNF26基因。我们还通过生物信息学鉴定并表征了位于11q23.1的KIAA1735/MTHDIX基因和位于11q23.2的CLDN24基因。在此,鉴定出了一个与5'-截短的FLJ20535 cDNA对应的新人类基因。FLJ20535对应于FLJ13859的核苷酸位置55 - 2255,而FLJ13859的核苷酸位置52 - 2169是编码区。由于其基因产物中存在四肽重复(TPR)和犰狳重复(ARM)结构域,该新人类基因被命名为TPARM。小鼠E330017O07Rik cDNA源自小鼠Tparm基因。人类TPARM(705个氨基酸)和小鼠Tparm(704个氨基酸)的总氨基酸同一性为75.4%,由TPR结构域和三个ARM结构域组成。TPARM的TPR结构域与SMAP1的TPR结构域同源性最高,而TPARM的ARM1 - ARM3结构域与CTNNB1(也称为β - 连环蛋白)的ARM7 - ARM9结构域同源性最高。TPARM可能参与WNT - β - 连环蛋白信号通路。TPARM mRNA在睾丸、前列腺、肺、生发中心B细胞中表达,在神经母细胞瘤、畸胎癌、结肠癌和胃癌中也有表达。发现人类TPARM基因由22个外显子组成。TPARM基因位于NCAM1和DRD2基因之间,定位于人类染色体11q23.2。TPARM以及NCAM1和DRD2被预测为11q23.1 - q23.2(微卫星标记D11S1347和D11S4122之间)恶性黑色素瘤常见缺失区域内的候选肿瘤抑制基因。

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