POU5F1

该基因编码一个包含在胚胎发育和干细胞多能性中起关键作用的pou同源结构域的转录因子。该基因在成人组织中的异常表达与肿瘤发生有关。这个基因可以参与到21号染色体上尤因肉瘤基因的易位，这也导致了肿瘤的形成。选择性剪接以及选择性aug和非aug翻译起始密码子的使用导致多种亚型。其中一个aug-start密码子在人类群体中具有多态性。在1、3、8、10和12号染色体上发现了相关的假基因。
This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12.