Marenholz Ingo, Heizmann Claus W
Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zürich, Zürich, Switzerland.
Biochem Biophys Res Commun. 2004 Jan 9;313(2):237-44. doi: 10.1016/j.bbrc.2003.11.115.
Calcium binding proteins of the S100 family play a central role in many intra- and extracellular processes and abnormal expression was observed in various tumors and human diseases. We have identified a unique new member of this gene family: S100A16 which is the S100 protein widest distributed in human and which is highly conserved in mammals. Up-regulation of S100A16 was found in many tumors implying a central cellular function related to malignant transformation. The gene was composed of four exons, two of which alternatively initiated transcription. Three different transcripts suggested a complex regulation of the S100A16 gene. Moreover, CAG repeats were identified in the transcribed region which might be associated with diseases of the nervous system. All human transcripts encoded the same, typically small S100 protein of 103 amino acids containing the S100-specific motif of two distinct EF-hands. S100A16 was mapped within the S100 gene cluster on human chromosome 1q21, a region that is frequently rearranged in tumors.
S100家族的钙结合蛋白在许多细胞内和细胞外过程中发挥核心作用，并且在各种肿瘤和人类疾病中观察到异常表达。我们鉴定出了该基因家族的一个独特新成员：S100A16，它是在人类中分布最广泛的S100蛋白，并且在哺乳动物中高度保守。在许多肿瘤中发现S100A16上调，这意味着其与恶性转化相关的核心细胞功能。该基因由四个外显子组成，其中两个外显子可选择性起始转录。三种不同的转录本提示S100A16基因存在复杂调控。此外，在转录区域鉴定出CAG重复序列，其可能与神经系统疾病有关。所有人类转录本均编码相同的、典型的由103个氨基酸组成的小S100蛋白，该蛋白含有由两个不同EF手型组成的S100特异性基序。S100A16定位于人类染色体1q21上的S100基因簇内，该区域在肿瘤中经常发生重排。
