Katoh Masuko, Katoh Masaru
M&M Medical BioInformatics, Narashino 275-0022, Japan.
Int J Oncol. 2003 Jul;23(1):145-50.
Dishevelled 1 (DVL1), DVL2 and DVL3 are DIX-domain proteins implicated in the WNT signaling pathway. Here, we searched for a novel DIX-domain protein by using bioinformatics. Uncharacterized human KIAA1735 gene was found encoding a novel DIX-domain protein. Mouse ortholog of human KIAA1735 gene was next identified, and the nucleotide sequence of mouse Kiaa1735 cDNA was determined in silico by assembling nucleotide sequences of ESTs BY753211, BQ931084, CA750490, BQ960056 and a 5'-truncated partial cDNA AK082960. Human KIAA1735 protein (472 aa) and mouse Kiaa1735 protein (474 aa) showed 90.9% total-amino-acid identity. Myosine-tail homologous (MTH) domain and C-terminal DIX domain were conserved between human KIAA1735 and mouse Kiaa1735 proteins. A tyrosine phosphorylation site (Tyr 242) within the MTH domain was conserved between human KIAA1735 and mouse Kiaa1735 proteins. Leucine zipper motif (codon 202-237) and another tyrosine phosphorylation site (Tyr 272) were identified within the MTH domain of human KIAA1735, but not within that of mouse Kiaa1735. Human KIAA1735 mRNA was expressed in brain, subchondral bone, and also in lung cancer. KIAA1735 gene, consisting of 16 exons, was about 45 kb in size. KIAA1735 gene was linked to DLAT gene in tail-to-head manner with an interval less than 4.0 kb. KIAA1735 gene on human chromosome 11q23.1 was located between D11S1391 and D11S1347 loci, the region deleted in sporadic breast cancer. This is the first report on comprehensive characterization of the KIAA1735 gene.
蓬乱蛋白1(DVL1)、DVL2和DVL3是参与WNT信号通路的含DIX结构域的蛋白。在此,我们通过生物信息学方法寻找一种新型含DIX结构域的蛋白。发现未被表征的人类KIAA1735基因编码一种新型含DIX结构域的蛋白。接下来鉴定了人类KIAA1735基因的小鼠直系同源基因,并通过组装ESTs BY753211、BQ931084、CA750490、BQ960056和一个5'-截短的部分cDNA AK082960的核苷酸序列,在计算机上确定了小鼠Kiaa1735 cDNA的核苷酸序列。人类KIAA1735蛋白(472个氨基酸)和小鼠Kiaa1735蛋白(474个氨基酸)的总氨基酸同一性为90.9%。人类KIAA1735和小鼠Kiaa1735蛋白之间的肌球蛋白尾部同源(MTH)结构域和C端DIX结构域是保守的。人类KIAA1735和小鼠Kiaa1735蛋白之间,MTH结构域内的一个酪氨酸磷酸化位点(Tyr 242)是保守的。在人类KIAA1735的MTH结构域内鉴定到亮氨酸拉链基序(密码子202 - 237)和另一个酪氨酸磷酸化位点(Tyr 272),但在小鼠Kiaa1735的MTH结构域内未鉴定到。人类KIAA1735 mRNA在脑、软骨下骨以及肺癌中表达。KIAA1735基因由16个外显子组成,大小约为45 kb。KIAA1735基因与DLAT基因以头对头的方式相连,间隔小于4.0 kb。位于人类染色体11q23.1上的KIAA1735基因位于D11S1391和D11S1347基因座之间,该区域在散发性乳腺癌中缺失。这是关于KIAA1735基因全面表征的首次报道。