Transcription factor SOX-9
GeneName
SOX9
Summary
SOX9, also known as SOX-9 or transcription factor SOX9, is a 56 kDa transcription factor predominantly expressed in the nucleus and involved in various developmental processes. It binds to specific DNA sequences, regulating gene expression related to cell fate specification, cartilage development, and organogenesis. SOX9 plays a crucial role in chondrocyte differentiation and is essential for the formation of cartilage and bones. It is also implicated in the canonical Wnt signalling pathway and interacts with beta-catenin, influencing developmental pathways and cellular responses to various stimuli.
Importance
SOX9 is relevant to: - Cartilage and bone development, making it a critical factor in skeletal disorders and osteoarthritis. - Stem cell biology, as it regulates stem cell fate and differentiation, with implications for regenerative medicine. - Male sex determination and gonadal development, contributing to understanding disorders of sexual development. - Cancer research, where aberrant SOX9 expression is linked to tumour progression and metastasis in various cancers.
Top Products
For researchers investigating SOX9, we highly recommend the top-selling recombinant antibody, Anti-SOX9 antibody [EPR14335-78] (ab185966). This well-cited antibody has garnered 368 citations, reflecting its strong reputation in the field. It has been validated for use in a variety of applications, including immunohistochemistry (IHC), western blotting (WB), immunocytochemistry (ICC), and flow cytometry (FC). The recombinant nature of this antibody ensures batch-to-batch consistency, making it an excellent choice for reliable SOX9 detection in your experiments. The Anti-SOX9 antibody ELISA Kit (ab185230), supported by 203 citations, is an excellent option for researchers looking to accurately measure SOX9 levels in their samples.
Abcam Product Citation Summary
The data indicates that SOX9 is a significant target in various studies related to chondrogenesis, glioblastoma, and ischemia-reperfusion injury. The use of Abcam antibodies in both human and mouse models highlights the relevance of SOX9 in developmental biology and cancer research. The applications of IHC, IF, and WB demonstrate the versatility of these antibodies in detecting SOX9 across different experimental contexts.
Abcam Product Citation Table
Domain
The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
The PQA region (for proline, glutamine and alanine-rich) helps stabilize SOX9 and facilitates transactivation (PubMed:31194875). It lacks intrinsic transactivation capability (PubMed:31194875).
Function
Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:8640233). Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte differentiation (By similarity). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (By similarity). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (By similarity). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (By similarity). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (By similarity). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (By similarity). Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors (By similarity). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (By similarity). Controls epithelial branching during kidney development (By similarity).
Involvement in disease
Campomelic dysplasia
CMD1
A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.
None
The disease is caused by variants affecting the gene represented in this entry.
46,XX sex reversal 2
SRXX2
A condition in which male gonads develop in a genetic female (female to male sex reversal).
None
The disease is caused by variants affecting the gene represented in this entry.
46,XY sex reversal 10
SRXY10
A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Acetylated; acetylation impairs nuclear localization and ability to transactivate expression of target genes. Deacetylated by SIRT1.
Phosphorylation at Ser-64 and Ser-211 by PKA increases transcriptional activity and may help delay chondrocyte maturation downstream of PTHLH/PTHrP signaling. Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation. Phosphorylated on tyrosine residues; tyrosine dephosphorylation by PTPN11/SHP2 blocks SOX9 phosphorylation by PKA and subsequent SUMOylation.
Ubiquitinated; ubiquitination leads to proteasomal degradation and is negatively regulated by DDRGK1.
Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation. Sumoylation is induced by BMP signaling pathway.
Cellular localization
- Nucleus
Alternative names
Transcription factor SOX-9, SOX9