SIX1 : SIX homeobox 1

Description

The SIX1 (SIX homeobox 1) is a protein-coding gene located on chromosome 14.

The SIX1 gene belongs to the SIX gene family, which encodes proteins that bind to DNA and regulate gene activity. These proteins are known as transcription factors. The SIX1 protein interacts with other proteins, including the EYA1 protein, to control the activity of genes essential for normal development. Before birth, these protein interactions are crucial for the proper formation of various tissues, including the second branchial arch, ears, kidneys, nose, thymus, and skeletal muscles.

SIX1 is a transcription factor involved in regulating cell proliferation, apoptosis, and embryonic development. It plays a crucial role in the development of organs including the kidney, muscle, and inner ear. It can act as both a transcriptional repressor and activator, requiring interaction with EYA family members for activation. SIX1 mediates the nuclear translocation of EYA1 and EYA2. It binds to the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element of the MYOG promoter and CIDEA enhancer. It regulates the expression of numerous genes including MYC, CCND1, and EZR. It activates the IGFBP5 promoter, likely in conjunction with EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, it appears to work with EYA2 and DACH2. It regulates the expression of CCNA1 and promotes brown adipocyte differentiation.

SIX1 is also known as BOS3, DFNA23, TIP39.

Associated Diseases

• Deafness, autosomal dominant 23
• BOR syndrome
• Branchiootic syndrome 3
• Branchiootic syndrome
• Branchiootorenal syndrome 1
• Branchiootorenal/branchiootic syndrome
• Congenital anomalies of kidney and urinary tract