菜单 基因医生

该基因编码的蛋白属于热休克蛋白70家族。这个基因使用其他转录起始位点。在5′UTR中发现的顺式作用片段参与依赖于压力的诱导,导致该蛋白质在缺氧条件下在内质网(ER)中的积累。这个基因编码的蛋白质被认为在内质网的蛋白质折叠和分泌中起着重要作用。由于抑制蛋白质与加速凋亡有关,因此还建议在缺氧诱导的细胞扰动中具有重要的细胞保护作用。这种蛋白在肿瘤中,特别是在乳腺肿瘤中被证明是上调的,因此它与肿瘤的侵袭性有关。该基因也有一个可供选择的翻译起始位点,从而产生一种缺乏N-末端信号肽的蛋白质这种缺乏信号肽的蛋白质,仅比内质网中的成熟蛋白质短3个氨基酸,被认为在胞浆中具有管家功能。在大鼠体内,这种蛋白质通过羧基末端肽序列定位于内质网,通过氨基末端靶向信号定位于线粒体。选择性剪接导致多个转录变体[由RefSeq提供,2014年3月]
The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

基因名:HYOU1
别名:IMD59,Grp170,HSP12A,ORP150,GRP-170,ORP-150
基因ID:10525
Chromosome:
(GRCh37)
11 Start: 118914896 End: 118927951 Strand: 
信号通路:  
HYOU1 基因突变与药物