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Details on Person UniProt:Q15475 SIX1
| Class:Id | ReferenceGeneProduct:64506 |
|---|---|
| _chainChangeLog | chain:1-284 added on Fri February 6 2015 |
| _displayName | UniProt:Q15475 SIX1 |
| _timestamp | 2024-11-03 20:12:06 |
| chain | chain:1-284 |
| checksum | A4195376CFB9E3EA |
| comment | FUNCTION Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as a transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (PubMed:15141091). Mediates nuclear translocation of EYA1 and EYA2 (PubMed:19497856). Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer (PubMed:15141091, PubMed:19497856, PubMed:23435380, PubMed:27923061). Regulates the expression of numerous genes, including MYC, CCND1 and EZR (By similarity). Acts as an activator of the IGFBP5 promoter, probably coactivated by EYA2 (By similarity). Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex (By similarity). During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1 (PubMed:15123840). Promotes brown adipocyte differentiation (By similarity).SUBUNIT Interacts with DACH1 (By similarity). Interacts with EYA1 (By similarity). Interacts with EYA2 (PubMed:19497856, PubMed:23435380). Interacts with CDH1 (PubMed:17130831). Interacts with TBX18 (PubMed:26235987). Interacts with CEBPA (PubMed:27923061). Interacts with CEBPB (PubMed:27923061). Interacts with EBF2 (PubMed:27923061).INTERACTION Specifically expressed in skeletal muscle.PTM Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding to promoter elements.PTM Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable.SIMILARITY Belongs to the SIX/Sine oculis homeobox family. |
| description | recommendedName: Homeobox protein SIX1 alternativeName: Sine oculis homeobox homolog 1 |
| geneName | SIX1 |
| identifier | Q15475 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Activator Apoptosis Cytoplasm Deafness Developmental protein Disease variant DNA-binding Homeobox Non-syndromic deafness Nucleus Phosphoprotein Proteomics identification Reference proteome Repressor Transcription Transcription regulation Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | SIX1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9000321] ENSEMBL:ENSG00000126778 SIX1 [Homo sapiens] |
| secondaryIdentifier | SIX1_HUMAN Q53Y16 Q96H64 |
| sequenceLength | 284 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:9757860] SIX1 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q15475 SIX1 (64506)
