USF1
Description
The USF1 (upstream transcription factor 1) is a protein-coding gene located on chromosome 1.
Upstream stimulatory factor 1 (USF1) is a protein encoded by the USF1 gene in humans. It belongs to the MYC family of transcription factors and contains a basic helix-loop-helix leucine zipper (bHLH-LZ) motif, which allows it to interact with DNA. USF1 was initially identified for its role in regulating adenovirus promoters, and more recent research has highlighted its involvement in tissue protection. The bHLH-LZ motif enables USF1's transactivation by binding to the Initiator element (Inr) and E-box motifs on DNA. In the context of insulin and glucose-induced USF1 activities, E-box motifs act as a glucose-responsive element (GRE) and a component of the carbohydrate response element (ChoRE), interacting with other transcription factors. USF1 is one of two major isoforms, the other being USF2. Both isoforms have 10 exons and can undergo alternative splicing, with exon 4-excision products acting as dominant negative regulators of USF-dependent gene expression. Despite sharing 70% amino acid sequence similarity in the bHLH-LZ region, USF1 and USF2 exhibit only 40% similarity overall and display different protein abundances in a cell type-specific manner.
USF1 is also known as FCHL, FCHL1, HYPLIP1, MLTF, MLTFI, UEF, bHLHb11.
Associated Diseases
- autosomal recessive primary microcephaly
- developmental and epileptic encephalopathy 104
- trichotillomania
- intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- guanidinoacetate methyltransferase deficiency
