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Details on Person UniProt:P35712 SOX6
| Class:Id | ReferenceGeneProduct:64864 |
|---|---|
| _chainChangeLog | chain:1-828 added on Sat February 7 2015 |
| _displayName | UniProt:P35712 SOX6 |
| _timestamp | 2024-11-03 20:03:19 |
| chain | chain:1-828 |
| checksum | 38CA781528C839CF |
| comment | FUNCTION Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity).SUBUNIT Homodimer (By similarity). Interacts with DAZAP2 (By similarity). May interact with CENPK (By similarity).INTERACTION Expressed in a wide variety of tissues, most abundantly in skeletal musclen.DEVELOPMENTAL STAGE Expressed in many prospective brain structures of fetuses (at protein level). Highly expressed in the developing brain with higher expression in the ganglionic eminence, the amygdaloid complex, and the hippocampus. The expression declines in all brain structures in the final stages of gestation and in the neonatal period, such that it is already as low in infants as in adults.PTM Sumoylation inhibits the transcriptional activity.DISEASE The disease is caused by variants affecting the gene represented in this entry. |
| description | recommendedName: fullName evidence="11"Transcription factor SOX-6 |
| geneName | SOX6 |
| identifier | P35712 |
| isSequenceChanged | FALSE |
| keyword | Activator Alternative splicing Autism spectrum disorder Coiled coil Cytoplasm Developmental protein Differentiation Disease variant DNA-binding Intellectual disability Isopeptide bond 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:9926675] Weiser, Joel, 2024-11-03 |
| name | SOX6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989231] ENSEMBL:ENSG00000110693 SOX6 [Homo sapiens] |
| secondaryIdentifier | SOX6_HUMAN Q86VX7 Q9BXQ3 Q9BXQ4 Q9BXQ5 Q9H0I8 |
| sequenceLength | 828 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:154238] UniProt:P35712-2 SOX6 [Homo sapiens] [ReferenceIsoform:154239] UniProt:P35712-3 SOX6 [Homo sapiens] [ReferenceIsoform:403847] UniProt:P35712-1 SOX6 [Homo sapiens] [ReferenceIsoform:8973504] UniProt:P35712-4 SOX6 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:3245999] SUMO3-SOX6 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:3246049] monoSUMO1-K404,K417-SOX6 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:3246093] SOX6 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:3246101] polySUMO2,3-K404,K417-SOX6 [nucleoplasm] [Homo sapiens] |
| (referenceSequence) | [GroupModifiedResidue:3245985] sumoylated lysine (polySUMO3 [nucleoplasm]) at 404 [GroupModifiedResidue:3246028] sumoylated lysine (polySUMO2,3 [nucleoplasm]) at 404 [GroupModifiedResidue:3246032] sumoylated lysine (polySUMO2,3 [nucleoplasm]) at 417 [GroupModifiedResidue:3246053] sumoylated lysine (monoSUMO1 [nucleoplasm]) at 417 [GroupModifiedResidue:3246059] sumoylated lysine (monoSUMO1 [nucleoplasm]) at 404 [GroupModifiedResidue:3246095] sumoylated lysine (polySUMO3 [nucleoplasm]) at 417 |
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No pathways have been reviewed or authored by UniProt:P35712 SOX6 (64864)
