Transcription factor SOX-9

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• beta-catenin binding Source: Ensembl
• bHLH transcription factor binding Source: Ensembl
• chromatin binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template."
    Coustry F., Oh C.D., Hattori T., Maity S.N., de Crombrugghe B., Yasuda H.
    Nucleic Acids Res. 38:6018-6028(2010) [PubMed] [Europe PMC] [Abstract]
• cis-regulatory region binding Source: UniProtKBInferred from direct assayⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]
• cis-regulatory region sequence-specific DNA binding Source: UniProtKB
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKBInferred from direct assayⁱ
  • "The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template."
    Coustry F., Oh C.D., Hattori T., Maity S.N., de Crombrugghe B., Yasuda H.
    Nucleic Acids Res. 38:6018-6028(2010) [PubMed] [Europe PMC] [Abstract]
  • "SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium."
    Masuda T., Esumi N.
    J. Biol. Chem. 285:26933-26944(2010) [PubMed] [Europe PMC] [Abstract]
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKBInferred from direct assayⁱ
  • "The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template."
    Coustry F., Oh C.D., Hattori T., Maity S.N., de Crombrugghe B., Yasuda H.
    Nucleic Acids Res. 38:6018-6028(2010) [PubMed] [Europe PMC] [Abstract]
  • "Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations."
    Knower K.C., Kelly S., Ludbrook L.M., Bagheri-Fam S., Sim H., Bernard P., Sekido R., Lovell-Badge R., Harley V.R.
    PLoS ONE 6:e17751-e17751(2011) [PubMed] [Europe PMC] [Abstract]
• pre-mRNA intronic binding Source: Ensembl
• protein kinase A catalytic subunit binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium."
    Masuda T., Esumi N.
    J. Biol. Chem. 285:26933-26944(2010) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• anterior head development Source: Ensembl
• aortic valve morphogenesis Source: BHF-UCLInferred from direct assayⁱ
  • "Inhibitory role of Notch1 in calcific aortic valve disease."
    Acharya A., Hans C.P., Koenig S.N., Nichols H.A., Galindo C.L., Garner H.R., Merrill W.H., Hinton R.B., Garg V.
    PLoS ONE 6:e27743-e27743(2011) [PubMed] [Europe PMC] [Abstract]
• astrocyte fate commitment Source: Ensembl
• branching involved in ureteric bud morphogenesis Source: Ensembl
• bronchus cartilage development Source: Ensembl
• cAMP-mediated signaling Source: UniProtKBInferred from direct assayⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]
• cartilage condensation Source: UniProtKB
• cartilage development Source: UniProtKB
• cell-cell adhesion Source: Ensembl
• cell fate specification Source: UniProtKB
• cellular response to BMP stimulus Source: UniProtKB
• cellular response to epidermal growth factor stimulus Source: UniProtKB <p>Inferred from Sequence or Structural Similarity<br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to heparin Source: UniProtKBInferred from sequence or structural similarityⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to interleukin-1 Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "Interleukin-1 inhibits Sox9 and collagen type II expression via nuclear factor-kappaB in the cultured human intervertebral disc cells."
    Yu Z.G., Xu N., Wang W.B., Pan S.H., Li K.S., Liu J.K.
    Chin. Med. J. 122:2483-2488(2009) [PubMed] [Europe PMC] [Abstract]
• cellular response to mechanical stimulus Source: UniProtKBInferred from sequence or structural similarityⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to retinoic acid Source: UniProtKBInferred from expression patternⁱ
  • "RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition."
    Afonja O., Raaka B.M., Huang A., Das S., Zhao X., Helmer E., Juste D., Samuels H.H.
    Oncogene 21:7850-7860(2002) [PubMed] [Europe PMC] [Abstract]
• cellular response to transforming growth factor beta stimulus Source: UniProtKBInferred from direct assayⁱ
  • "Electroporation-mediated transfer of SOX trio genes (SOX-5, SOX-6, and SOX-9) to enhance the chondrogenesis of mesenchymal stem cells."
    Kim H.J., Im G.I.
    Stem Cells Dev. 20:2103-2114(2011) [PubMed] [Europe PMC] [Abstract]
• central nervous system development Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• chondrocyte differentiation Source: UniProtKB
• chondrocyte differentiation involved in endochondral bone morphogenesis Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Generation of transgenic mice for conditional overexpression of Sox9."
    Kim Y., Murao H., Yamamoto K., Deng J.M., Behringer R.R., Nakamura T., Akiyama H.
    J. Bone Miner. Metab. 29:123-129(2011) [PubMed] [Europe PMC] [Abstract]
• chondrocyte hypertrophy Source: UniProtKB
• chromatin remodeling Source: UniProtKBInferred from direct assayⁱ
  • "The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template."
    Coustry F., Oh C.D., Hattori T., Maity S.N., de Crombrugghe B., Yasuda H.
    Nucleic Acids Res. 38:6018-6028(2010) [PubMed] [Europe PMC] [Abstract]
• cochlea morphogenesis Source: UniProtKB
• cytoskeleton organization Source: Ensembl
• endocardial cushion morphogenesis Source: UniProtKB
• endocrine pancreas development Source: Ensembl
• epidermal growth factor receptor signaling pathway Source: UniProtKBInferred from sequence or structural similarityⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• epithelial cell proliferation involved in prostatic bud elongation Source: UniProtKB
• epithelial to mesenchymal transition Source: UniProtKB
• epithelial tube branching involved in lung morphogenesis Source: Ensembl
• ERK1 and ERK2 cascade Source: UniProtKBInferred from sequence or structural similarityⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• extracellular matrix organization Source: Ensembl
• hair follicle development Source: UniProtKB
• Harderian gland development Source: Ensembl
• heart development Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• heart valve development Source: UniProtKB
• heart valve formation Source: Ensembl
• heart valve morphogenesis Source: UniProtKB
• intestinal epithelial structure maintenance Source: UniProtKB
• intrahepatic bile duct development Source: Ensembl
• lacrimal gland development Source: Ensembl
• limb bud formation Source: Ensembl
• lung epithelial cell differentiation Source: Ensembl
• lung smooth muscle development Source: Ensembl
• male germ-line sex determination Source: UniProtKB
• male gonad development Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sex reversal by loss of the C-terminal transactivation domain of human SOX9."
    Sudbeck P., Schmitz M.L., Baeuerle P.A., Scherer G.
    Nat. Genet. 13:230-232(1996) [PubMed] [Europe PMC] [Abstract]
• mammary gland development Source: Ensembl
• metanephric nephron tubule formation Source: UniProtKB
• morphogenesis of a branching epithelium Source: UniProtKB
• morphogenesis of an epithelium Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of apoptotic process Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of biomineral tissue development Source: BHF-UCLInferred from direct assayⁱ
  • "Inhibitory role of Notch1 in calcific aortic valve disease."
    Acharya A., Hans C.P., Koenig S.N., Nichols H.A., Galindo C.L., Garner H.R., Merrill W.H., Hinton R.B., Garg V.
    PLoS ONE 6:e27743-e27743(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of bone mineralization Source: Ensembl
• negative regulation of canonical Wnt signaling pathway Source: UniProtKB
• negative regulation of chondrocyte differentiation Source: UniProtKB
• negative regulation of epithelial cell differentiation Source: Ensembl
• negative regulation of epithelial cell proliferation Source: UniProtKB
• negative regulation of immune system process Source: UniProtKB
• negative regulation of mesenchymal cell apoptotic process Source: Ensembl
• negative regulation of myoblast differentiation Source: UniProtKB
• negative regulation of ossification Source: CACAOInferred from direct assayⁱ
  • "Sox9 augments BMP2-induced chondrogenic differentiation by downregulating Smad7 in mesenchymal stem cells (MSCs)."
    Zhao C., Jiang W., Zhou N., Liao J., Yang M., Hu N., Liang X., Xu W., Chen H., Liu W., Shi L.L., Oliveira L., Wolf J.M., Ho S., Athiviraham A., Tsai H.M., He T.C., Huang W.
    Genes Dis 4:229-239(2017) [PubMed] [Europe PMC] [Abstract]
• negative regulation of photoreceptor cell differentiation Source: UniProtKB
• negative regulation of pri-miRNA transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • "The microRNA-29 family in cartilage homeostasis and osteoarthritis."
    Le L.T., Swingler T.E., Crowe N., Vincent T.L., Barter M.J., Donell S.T., Delany A.M., Dalmay T., Young D.A., Clark I.M.
    J. Mol. Med. 94:583-596(2016) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription, DNA-templated Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Upregulation of SOX9 in lung adenocarcinoma and its involvement in the regulation of cell growth and tumorigenicity."
    Jiang S.S., Fang W.T., Hou Y.H., Huang S.F., Yen B.L., Chang J.L., Li S.M., Liu H.P., Liu Y.L., Huang C.T., Li Y.W., Jang T.H., Chan S.H., Yang S.J., Hsiung C.A., Wu C.W., Wang L.H., Chang I.S.
    Clin. Cancer Res. 16:4363-4373(2010) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: CACAOInferred from direct assayⁱ
  • "Sox9 augments BMP2-induced chondrogenic differentiation by downregulating Smad7 in mesenchymal stem cells (MSCs)."
    Zhao C., Jiang W., Zhou N., Liao J., Yang M., Hu N., Liang X., Xu W., Chen H., Liu W., Shi L.L., Oliveira L., Wolf J.M., Ho S., Athiviraham A., Tsai H.M., He T.C., Huang W.
    Genes Dis 4:229-239(2017) [PubMed] [Europe PMC] [Abstract]
• neural crest cell development Source: Ensembl
• neural crest cell fate specification Source: UniProtKB
• Notch signaling pathway Source: Ensembl
• notochord development Source: Ensembl
• nucleosome assembly Source: UniProtKBInferred from direct assayⁱ
  • "The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template."
    Coustry F., Oh C.D., Hattori T., Maity S.N., de Crombrugghe B., Yasuda H.
    Nucleic Acids Res. 38:6018-6028(2010) [PubMed] [Europe PMC] [Abstract]
• oligodendrocyte differentiation Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• ossification Source: Ensembl
• otic vesicle formation Source: UniProtKB
• positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
• positive regulation of cartilage development Source: UniProtKBInferred from direct assayⁱ
  • "Electroporation-mediated transfer of SOX trio genes (SOX-5, SOX-6, and SOX-9) to enhance the chondrogenesis of mesenchymal stem cells."
    Kim H.J., Im G.I.
    Stem Cells Dev. 20:2103-2114(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell population proliferation Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Upregulation of SOX9 in lung adenocarcinoma and its involvement in the regulation of cell growth and tumorigenicity."
    Jiang S.S., Fang W.T., Hou Y.H., Huang S.F., Yen B.L., Chang J.L., Li S.M., Liu H.P., Liu Y.L., Huang C.T., Li Y.W., Jang T.H., Chan S.H., Yang S.J., Hsiung C.A., Wu C.W., Wang L.H., Chang I.S.
    Clin. Cancer Res. 16:4363-4373(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell proliferation involved in heart morphogenesis Source: Ensembl
• positive regulation of chondrocyte differentiation Source: UniProtKBInferred from direct assayⁱ
  • "Electroporation-mediated transfer of SOX trio genes (SOX-5, SOX-6, and SOX-9) to enhance the chondrogenesis of mesenchymal stem cells."
    Kim H.J., Im G.I.
    Stem Cells Dev. 20:2103-2114(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of chondrocyte proliferation Source: CACAOInferred from direct assayⁱ
  • "Sox9 augments BMP2-induced chondrogenic differentiation by downregulating Smad7 in mesenchymal stem cells (MSCs)."
    Zhao C., Jiang W., Zhou N., Liao J., Yang M., Hu N., Liang X., Xu W., Chen H., Liu W., Shi L.L., Oliveira L., Wolf J.M., Ho S., Athiviraham A., Tsai H.M., He T.C., Huang W.
    Genes Dis 4:229-239(2017) [PubMed] [Europe PMC] [Abstract]
• positive regulation of epithelial cell differentiation Source: UniProtKB
• positive regulation of epithelial cell migration Source: UniProtKBInferred from mutant phenotypeⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of epithelial cell proliferation Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation."
    Thomsen M.K., Ambroisine L., Wynn S., Cheah K.S., Foster C.S., Fisher G., Berney D.M., Moller H., Reuter V.E., Scardino P., Cuzick J., Ragavan N., Singh P.B., Martin F.L., Butler C.M., Cooper C.S., Swain A.
    Cancer Res. 70:979-987(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of extracellular matrix assembly Source: Ensembl
• positive regulation of gene expression Source: UniProtKBInferred from direct assayⁱ
  • "The NLR-related protein NWD1 is associated with prostate cancer and modulates androgen receptor signaling."
    Correa R.G., Krajewska M., Ware C.F., Gerlic M., Reed J.C.
    Oncotarget 5:1666-1682(2014) [PubMed] [Europe PMC] [Abstract]
• positive regulation of kidney development Source: UniProtKB
• positive regulation of male gonad development Source: UniProtKBInferred from direct assayⁱ
  • "Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations."
    Knower K.C., Kelly S., Ludbrook L.M., Bagheri-Fam S., Sim H., Bernard P., Sekido R., Lovell-Badge R., Harley V.R.
    PLoS ONE 6:e17751-e17751(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of mesenchymal cell proliferation Source: UniProtKB
• positive regulation of mesenchymal stem cell differentiation Source: UniProtKBInferred from direct assayⁱ
  • "Electroporation-mediated transfer of SOX trio genes (SOX-5, SOX-6, and SOX-9) to enhance the chondrogenesis of mesenchymal stem cells."
    Kim H.J., Im G.I.
    Stem Cells Dev. 20:2103-2114(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
• positive regulation of protein catabolic process Source: Ensembl
• positive regulation of protein phosphorylation Source: UniProtKB
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • "SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium."
    Masuda T., Esumi N.
    J. Biol. Chem. 285:26933-26944(2010) [PubMed] [Europe PMC] [Abstract]
  • "Sex reversal by loss of the C-terminal transactivation domain of human SOX9."
    Sudbeck P., Schmitz M.L., Baeuerle P.A., Scherer G.
    Nat. Genet. 13:230-232(1996) [PubMed] [Europe PMC] [Abstract]
• prostate gland development Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation."
    Thomsen M.K., Ambroisine L., Wynn S., Cheah K.S., Foster C.S., Fisher G., Berney D.M., Moller H., Reuter V.E., Scardino P., Cuzick J., Ragavan N., Singh P.B., Martin F.L., Butler C.M., Cooper C.S., Swain A.
    Cancer Res. 70:979-987(2010) [PubMed] [Europe PMC] [Abstract]
• protein-containing complex assembly Source: UniProtKBInferred from direct assayⁱ
  • "SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium."
    Masuda T., Esumi N.
    J. Biol. Chem. 285:26933-26944(2010) [PubMed] [Europe PMC] [Abstract]
• protein kinase B signaling Source: Ensembl
• protein localization to nucleus Source: Ensembl
• regulation of apoptotic process Source: UniProtKB
• regulation of branching involved in lung morphogenesis Source: Ensembl
• regulation of cell adhesion Source: Ensembl
• regulation of cell cycle process Source: UniProtKBInferred from mutant phenotypeⁱ
  • "RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition."
    Afonja O., Raaka B.M., Huang A., Das S., Zhao X., Helmer E., Juste D., Samuels H.H.
    Oncogene 21:7850-7860(2002) [PubMed] [Europe PMC] [Abstract]
• regulation of cell population proliferation Source: UniProtKB
• regulation of cell proliferation involved in tissue homeostasis Source: UniProtKB
• regulation of epithelial cell proliferation involved in lung morphogenesis Source: Ensembl
• renal vesicle induction Source: UniProtKB
• retina development in camera-type eye Source: UniProtKB
• retinal rod cell differentiation Source: UniProtKB
• Sertoli cell development Source: Ensembl
• Sertoli cell differentiation Source: UniProtKB
• signal transduction Source: UniProtKB
• skeletal system development Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sex reversal by loss of the C-terminal transactivation domain of human SOX9."
    Sudbeck P., Schmitz M.L., Baeuerle P.A., Scherer G.
    Nat. Genet. 13:230-232(1996) [PubMed] [Europe PMC] [Abstract]
• somatic stem cell population maintenance Source: UniProtKB
• spermatogenesis Source: UniProtKB
• tissue homeostasis Source: UniProtKB
• trachea cartilage development Source: Ensembl
• transcription initiation from RNA polymerase II promoter Source: Reactome
• ureter morphogenesis Source: Ensembl
• ureter smooth muscle cell differentiation Source: Ensembl
• ureter urothelium development Source: Ensembl

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• beta-catenin binding Source: Ensembl
• bHLH transcription factor binding Source: Ensembl
• protein kinase A catalytic subunit binding Source: UniProtKBInferred from physical interactionⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE 
        60         70         80         90        100
NTFPKGEPDL KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK 
       110        120        130        140        150
NKPHVKRPMN AFMVWAQAAR RKLADQYPHL HNAELSKTLG KLWRLLNESE 
       160        170        180        190        200
KRPFVEEAER LRVQHKKDHP DYKYQPRRRK SVKNGQAEAE EATEQTHISP 
       210        220        230        240        250
NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT PKTDVQPGKA 
       260        270        280        290        300
DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP 
       310        320        330        340        350
NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP 
       360        370        380        390        400
QAPPAPQAPP QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE 
       410        420        430        440        450
QLSPSHYSEQ QQHSPQQIAY SPFNLPHYSP SYPPITRSQY DYTDHQNSSS 
       460        470        480        490        500
YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI ADTSGVPSIP QTHSPQHWEQ 

PVYTQLTRP                                              

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
2. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
3. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
4. Human chromosome 17
   Human chromosome 17: entries, gene names and cross-references to MIM
5. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references