SOX17
Description
The SOX17 (SRY-box transcription factor 17) is a protein-coding gene located on chromosome 8.
SOX17 is a protein encoded by the SOX17 gene, a member of the SOX (SRY-related HMG-box) family of transcription factors located on chromosome 8q11.23. Its gene is within a CTCF loop domain, with a tissue-specific differentially methylated region (DMR) located about 230 kb upstream. This DMR contains SOX17 regulatory elements, including the most distal definitive endoderm-specific enhancer. SOX17 is a topologically insulated gene (TIG), which are single protein coding genes within CTCF loop domains, often involved in developmental regulation and tightly controlled by their 3D architecture. SOX17 plays a key role in vertebrate embryonic development and endodermal cell fate determination. It functions downstream of TGF beta signaling (Activin) and canonical WNT signaling (Wnt3a). The correct phosphorylation of SMAD2/3 during the early G1 phase of the cell cycle is crucial for activating cardinal endodermal genes.
SOX17 functions as a transcription regulator, binding to target promoter DNA and inducing DNA bending. It recognizes the specific sequences 5'-AACAAT-3' or 5'-AACAAAG-3'. SOX17 modulates transcriptional regulation through interactions with WNT3A, inhibiting Wnt signaling and promoting the degradation of activated CTNNB1. This protein plays a crucial role in embryonic development, being essential for the normal development of the definitive gut endoderm and the proper looping of the embryonic heart tube. It is also involved in both embryonic and postnatal vascular development, particularly in the formation of arteries. In postnatal angiogenesis, SOX17 works in a functionally redundant manner with SOX18. SOX17 is required for the generation and maintenance of fetal hematopoietic stem cells, contributing to fetal hematopoiesis. Additionally, it is likely to act as a transcriptional activator in premeiotic germ cells.
SOX17 is also known as VUR3.
