SOX17: Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'- AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells. Defects in SOX17 are the cause of vesicoureteral reflux type 3 (VUR3). VUR3 is a disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.
Protein type: Transcription regulation; DNA-binding
Cellular Component: transcription factor complex; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; DNA binding; sequence-specific DNA binding; protein heterodimerization activity; transcription coactivator activity; beta-catenin binding; transcription factor binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; endodermal cell fate determination; negative regulation of Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; regulation of embryonic development; stem cell fate specification; gastrulation; Wnt receptor signaling pathway through beta-catenin; negative regulation of transcription from RNA polymerase II promoter; rostrocaudal neural tube patterning; regulation of transcription, DNA-dependent; negative regulation of mesodermal cell fate specification; regulation of cell differentiation; embryonic foregut morphogenesis; inner cell mass cellular morphogenesis; heart looping; angiogenesis; vasculogenesis; cell migration involved in gastrulation; Wnt receptor signaling pathway; transcription, DNA-dependent; protein stabilization; protein destabilization; positive regulation of skeletal muscle development; stem cell differentiation; mRNA transcription from RNA polymerase II promoter; regulation of mesodermal cell fate specification; endoderm formation; positive regulation of protein catabolic process; embryonic heart tube development; embryonic organ development; positive regulation of transcription from RNA polymerase II promoter; spermatogenesis; negative regulation of cell growth; positive regulation of cell differentiation; endoderm development
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