POU5F1

Description

The POU5F1 (POU class 5 homeobox 1) is a protein-coding gene located on chromosome 6.

POU5F1, also known as Oct-4, is a protein encoded by the POU5F1 gene in humans. It belongs to the POU family of homeodomain transcription factors and plays a critical role in the self-renewal of undifferentiated embryonic stem cells, making it a marker for these cells. Its expression must be carefully regulated; too much or too little can lead to cell differentiation. Oct-4 binds to a specific DNA sequence called the octamer motif (AGTCAAAT) and regulates gene expression, ultimately affecting stem cell differentiation during embryonic development. Oct-4 is not only involved in maintaining pluripotency in embryonic cells but also in regulating cancer cell proliferation. It has been found in various cancers, including pancreatic, lung, liver, and testicular germ cell tumors in adult germ cells.

POU5F1 is a transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). It forms a complex with SOX2 or SOX15 on DNA, regulating the expression of genes crucial for embryonic development, including YES1, FGF4, UTF1, and ZFP206. This protein plays a vital role in early embryogenesis and maintaining the pluripotency of embryonic stem cells.

POU5F1 is also known as OCT3, OCT4, OTF-3, OTF3, OTF4, Oct-3, Oct-4, Oct3/4.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing