Gene Symbol | SIX1 |
---|---|
Entrez Gene | 6495 |
Alt Symbol | BOS3, DFNA23, TIP39 |
Species | Human |
Gene Type | protein-coding |
Description | SIX homeobox 1 |
Other Description | homeobox protein SIX1|sine oculis homeobox homolog 1 |
Swissprots | Q53Y16 Q15475 Q96H64 |
Accessions | AAK06772 CAI61692 EAW80784 EAW80785 Q15475 AK093780 BC008874 AAH08874 BT007083 AAP35746 X91868 CAA62974 NM_005982 NP_005973 |
Function | 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. {ECO:0000250, ECO:0000269|PubMed:15123840, ECO:0000269|PubMed:15141 |
Subcellular Location | Nucleus. Cytoplasm. |
Tissue Specificity | Specifically expressed in skeletal muscle. |
Top Pathways | Transcriptional misregulation in cancer |