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-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 20484372
• DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayⁱ
  • 10805756
• enhancer binding Source: UniProtKBInferred from direct assayⁱ
  • 10805756
• enhancer sequence-specific DNA binding Source: UniProtKB
• pre-mRNA intronic binding Source: Ensembl
• protein heterodimerization activity 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-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • 10805756
• protein kinase activity Source: UniProtKB
• RNA polymerase II proximal promoter sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • 20530484
• RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
• transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • 20484372
  • 20530484
  • 21367821
• transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: UniProtKBInferred from direct assayⁱ
  • 20484372
  • 21412441

GO - Biological processⁱ

• anterior head development Source: Ensembl
• 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
  • 10805756
• 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-go-evidence-codes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityⁱ
  • 21512138
• cellular response to heparin Source: UniProtKBInferred from sequence or structural similarityⁱ
  • 21512138
• 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-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • 20079164
• cellular response to mechanical stimulus Source: UniProtKBInferred from sequence or structural similarityⁱ
  • 21512138
• cellular response to retinoic acid Source: UniProtKBInferred from expression patternⁱ
  • 12420222
• cellular response to transforming growth factor beta stimulus Source: UniProtKBInferred from direct assayⁱ
  • 21401405
• 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-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • 20676705
• chondrocyte hypertrophy Source: UniProtKB
• chromatin remodeling Source: UniProtKBInferred from direct assayⁱ
  • 20484372
• 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
  • 21512138
• 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
  • 21512138
• extracellular matrix organization Source: Ensembl
• hair follicle development Source: UniProtKB
• Harderian gland development Source: Ensembl
• 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
  • 8640233
• mammary gland development Source: Ensembl
• metanephric nephron tubule formation Source: UniProtKB
• morphogenesis of a branching epithelium Source: UniProtKB
• negative regulation of apoptotic process Source: UniProtKBInferred from mutant phenotypeⁱ
  • 21367821
• negative regulation of biomineral tissue development Source: BHF-UCLInferred from direct assayⁱ
  • 22110751
• 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: UniProtKB
• negative regulation of photoreceptor cell differentiation Source: UniProtKB
• negative regulation of pri-miRNA transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • 26687115
• negative regulation of transcription, DNA-templated Source: UniProtKBInferred from mutant phenotypeⁱ
  • 20651055
• 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
  • 20484372
• oligodendrocyte differentiation Source: Ensembl
• 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
  • 21401405
• positive regulation of cell proliferation Source: UniProtKBInferred from mutant phenotypeⁱ
  • 20651055
• positive regulation of cell proliferation involved in heart morphogenesis Source: Ensembl
• positive regulation of chondrocyte differentiation Source: UniProtKBInferred from direct assayⁱ
  • 21401405
• positive regulation of epithelial cell differentiation Source: UniProtKB
• positive regulation of epithelial cell migration Source: UniProtKBInferred from mutant phenotypeⁱ
  • 21512138
• positive regulation of epithelial cell proliferation Source: UniProtKBInferred from expression patternⁱ
  • 20103652
• positive regulation of extracellular matrix assembly Source: Ensembl
• positive regulation of kidney development Source: UniProtKB
• positive regulation of male gonad development Source: UniProtKBInferred from direct assayⁱ
  • 21412441
• positive regulation of mesenchymal cell proliferation Source: UniProtKB
• positive regulation of mesenchymal stem cell differentiation Source: UniProtKBInferred from direct assayⁱ
  • 21401405
• 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
  • 10805756
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • 20530484
  • 8640233
• prostate gland development Source: UniProtKBInferred from expression patternⁱ
  • 20103652
• protein-containing complex assembly Source: UniProtKBInferred from direct assayⁱ
  • 20530484
• 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
  • 12420222
• regulation of cell 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
  • 8640233
• 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

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_processing_section">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_section">'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_section">'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_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<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 heterodimerization activity Source: Ensembl
• protein kinase A catalytic subunit binding Source: UniProtKBInferred from physical interactionⁱ
  • 10805756

Protein-protein interaction 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
3. Human chromosome 17
   Human chromosome 17: entries, gene names and cross-references to MIM
4. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
5. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot