Aliases for SIX1 Gene
External Ids for SIX1 Gene
Previous HGNC Symbols for SIX1 Gene
Previous GeneCards Identifiers for SIX1 Gene
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
GeneCards Summary for SIX1 Gene
SIX1 (SIX Homeobox 1) is a Protein Coding gene. Diseases associated with SIX1 include Branchiootic Syndrome 3 and Deafness, Autosomal Dominant 23. Among its related pathways are Transcriptional misregulation in cancer and Wnt / Hedgehog / Notch. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is SIX2.
UniProtKB/Swiss-Prot for SIX1 Gene
Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5-TCA[AG][AG]TTNC-3 motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1.