GLI1


Description

The GLI1 (GLI family zinc finger 1) is a protein-coding gene located on chromosome 12.

GLI1 is a zinc finger protein encoded by the GLI1 gene in humans. It was originally identified in human glioblastoma cells. GLI1 proteins are effectors of Hedgehog (Hh) signaling and are involved in cell fate determination, proliferation, and patterning during embryonic development. They act as transcription factors by binding to Gli responsive genes and interacting with the transcription complex. GLI1 proteins contain DNA binding zinc finger domains that bind to consensus sequences on their target genes to initiate or suppress transcription. A mutated Gli zinc finger domain has been shown to inhibit the protein's function, demonstrating its role as a transcription factor. GLI1 proteins also possess an 18-amino acid region similar to the α-helical herpes simplex viral protein 16 activation domain, which contains a consensus recognition element for the human TFIID TATA box-binding protein associated factor TAFII31. Other proteins, such as Missing in Metastasis (MIM/BEG4), enhance the effects of the Gli transcription factors on target gene transcription.

GLI1 acts as a transcriptional activator by binding to the DNA consensus sequence 5'-GACCACCCA-3', regulating the transcription of specific genes during normal development. It plays a role in craniofacial and digital development, as well as the development of the central nervous system and gastrointestinal tract. GLI1 mediates SHH signaling and plays a role in cell proliferation and differentiation through its involvement in SHH signaling.

GLI1 is also known as GLI, PAPA8, PPD1.

Associated Diseases


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