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UniProtKB - P48436 (SOX9_HUMAN)

Entry version 205 (02 Dec 2020)
Sequence version 1 (01 Feb 1996)
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Protein

Transcription factor SOX-9

Gene

SOX9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi105 – 173HMG boxPROSITE-ProRule annotationAdd BLAST69

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionActivator, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P48436

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3769402, Deactivation of the beta-catenin transactivating complex
R-HSA-8878166, Transcriptional regulation by RUNX2

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P48436

SIGNOR Signaling Network Open Resource

More...SIGNORi		P48436

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcription factor SOX-9Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SOX91 PublicationImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000125398.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:11204, SOX9

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608160, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P48436

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Campomelic dysplasia (CMD1)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07849028 – 509Missing in CMD1. 1 PublicationAdd BLAST482
Natural variantiVAR_06364276A → E in CMD1; dimerization and the resulting capacity to activate promoters via dimeric binding sites is lost; other features of the protein function remain unaltered. 1 PublicationCorresponds to variant dbSNP:rs137853128EnsemblClinVar.1
Natural variantiVAR_003735108P → L in CMD1. 1 Publication1
Natural variantiVAR_003736112F → L in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1407667250Ensembl.1
Natural variantiVAR_003737112F → S in CMD1. 1 Publication1
Natural variantiVAR_063643113M → T in CMD1. 1 Publication1
Natural variantiVAR_063644113M → V in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication1
Natural variantiVAR_003738119A → V in CMD1; almost no loss of DNA binding. 2 Publications1
Natural variantiVAR_003739143W → R in CMD1. 1 Publication1
Natural variantiVAR_003740152R → P in CMD1. 1 Publication1
Natural variantiVAR_008529154F → L in CMD1; 5% of wild-type DNA binding activity; transcriptional activation is only reduced to 26% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs137853129EnsemblClinVar.1
Natural variantiVAR_008530158A → T in CMD1; 17% of wild-type DNA binding activity; shows a 2-fold reduction in nuclear import efficiency; transcriptional activation is only reduced to 62% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs137853130EnsemblClinVar.1
Natural variantiVAR_063645165H → Q in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication1
Natural variantiVAR_008531165H → Y in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs28940282EnsemblClinVar.1
Natural variantiVAR_078491169H → P in CMD1; decreased 75% transactivational activity. 2 Publications1
Natural variantiVAR_078492169H → Q in CMD1; mild form overlapping with small patella syndrome; decreased 50% transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs2229989EnsemblClinVar.1
Natural variantiVAR_063646170P → L in CMD1. 1 PublicationCorresponds to variant dbSNP:rs1131691554EnsemblClinVar.1
Natural variantiVAR_003741170P → R in CMD1. 2 Publications1
Natural variantiVAR_063647173K → E in CMD1. 1 PublicationCorresponds to variant dbSNP:rs104894647EnsemblClinVar.1
Natural variantiVAR_003742354 – 356Missing in CMD1. 3
Natural variantiVAR_083521440 – 509Missing in CMD1. 1 PublicationAdd BLAST70
46,XX sex reversal 2 (SRXX2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition in which male gonads develop in a genetic female (female to male sex reversal).
Related information in OMIM
46,XY sex reversal 10 (SRXY10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi278L → S: Impaired ability to activate transcription in vitro. 1 Publication1
Mutagenesisi282V → D: Impaired ability to activate transcription in vitro. 1 Publication1
Mutagenesisi290D → A: Impaired ability to activate transcription in vitro. 1 Publication1
Mutagenesisi293E → M or T: Impaired ability to activate transcription in vitro. 1 Publication1
Mutagenesisi294F → L: Does not affect ability to activate transcription in vitro. 1 Publication1
Mutagenesisi294F → S or A: Impaired ability to activate transcription in vitro. 1 Publication1
Mutagenesisi296Q → R: Impaired, but not abolished, ability to activate transcription in vitro. 1 Publication1
Mutagenesisi297Y → L, S, D or F: Impaired ability to activate transcription in vitro. 1 Publication1
Mutagenesisi298L → D: Impaired ability to activate transcription in vitro. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		6662

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SOX9

MalaCards human disease database

More...MalaCardsi		SOX9
MIMi114290, phenotype
278850, phenotype
616425, phenotype

Open Targets

More...OpenTargetsi		ENSG00000125398

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2138, 46,XX ovotesticular disorder of sex development
393, 46,XX testicular disorder of sex development
242, 46,XY complete gonadal dysgenesis
251510, 46,XY partial gonadal dysgenesis
140, Campomelic dysplasia
718, Isolated Pierre Robin syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36041

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P48436, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SOX9

Domain mapping of disease mutations (DMDM)

More...DMDMi		1351096

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000487391 – 509Transcription factor SOX-9Add BLAST509

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei64PhosphoserineBy similarity1
Modified residuei211PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki398Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

<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

Acetylated; acetylation impairs nuclear localization and ability to transactivate expression of target genes. Deacetylated by SIRT1.By similarity
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.By similarity
Ubiquitinated; ubiquitination leads to proteasomal degradation and is negatively regulated by DDRGK1.1 Publication
Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation. Sumoylation is induced by BMP signaling pathway.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P48436

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P48436

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P48436

MaxQB - The MaxQuant DataBase

More...MaxQBi		P48436

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P48436

PeptideAtlas

More...PeptideAtlasi		P48436

PRoteomics IDEntifications database

More...PRIDEi		P48436

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55889

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P48436

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P48436

<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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125398, Expressed in ventricular zone and 231 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P48436, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125398, Tissue enhanced (salivary)

<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

Homodimer; homodimerization is required for activity (By similarity).

Interacts (via C-terminus) with ZNF219; forming a complex that binds to the COL2A1 promoter and activates COL2A1 expression (By similarity).

Interacts with DDRGK1 (PubMed:28263186).

Interacts with EP300/p300 (PubMed:12732631).

Interacts with beta-catenin (CTNNB1); inhibiting CTNNB1 activity by competing with the binding sites of TCF/LEF within CTNNB1 (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112545, 21 interactors

Database of interacting proteins

More...DIPi		DIP-61319N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P48436

Protein interaction database and analysis system

More...IntActi		P48436, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000245479

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P48436, protein

<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

1509
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P48436

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni63 – 103Dimerization (DIM)1 PublicationAdd BLAST41
Regioni63 – 103PQA1 PublicationAdd BLAST41
Regioni224 – 307Transactivation domain (TAM)1 PublicationAdd BLAST84
Regioni394 – 509Transactivation domain (TAC)1 PublicationAdd BLAST116

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi275 – 2849aaTAD 11 Publication10
Motifi290 – 2989aaTAD 21 Publication9

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi339 – 378Gln/Pro-richAdd BLAST40
Compositional biasi342 – 346Poly-Pro5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.2 Publications
The PQA region (for proline, glutamine and alanine-rich) helps stabilizing SOX9 and facilitates transactivation (PubMed:31194875). It lacks intrinsic transactivation capability (PubMed:31194875).1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0527, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158269

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_031800_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P48436

Identification of Orthologs from Complete Genome Data

More...OMAi		DYTDHQS

Database of Orthologous Groups

More...OrthoDBi		1030296at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P48436

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009071, HMG_box_dom
IPR036910, HMG_box_dom_sf
IPR029548, SOX-9
IPR022151, Sox_N

The PANTHER Classification System

More...PANTHERi		PTHR45803:SF1, PTHR45803:SF1, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00505, HMG_box, 1 hit
PF12444, Sox_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00398, HMG, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47095, SSF47095, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50118, HMG_BOX_2, 1 hit

<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.

P48436-1 [UniParc]FASTAAdd to basket
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MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE 
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NTFPKGEPDL KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK 
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NKPHVKRPMN AFMVWAQAAR RKLADQYPHL HNAELSKTLG KLWRLLNESE 
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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
Length:509
Mass (Da):56,137
Last modified:February 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9289CFBB8D6631A2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07849028 – 509Missing in CMD1. 1 PublicationAdd BLAST482
Natural variantiVAR_06364276A → E in CMD1; dimerization and the resulting capacity to activate promoters via dimeric binding sites is lost; other features of the protein function remain unaltered. 1 PublicationCorresponds to variant dbSNP:rs137853128EnsemblClinVar.1
Natural variantiVAR_003735108P → L in CMD1. 1 Publication1
Natural variantiVAR_003736112F → L in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1407667250Ensembl.1
Natural variantiVAR_003737112F → S in CMD1. 1 Publication1
Natural variantiVAR_063643113M → T in CMD1. 1 Publication1
Natural variantiVAR_063644113M → V in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication1
Natural variantiVAR_003738119A → V in CMD1; almost no loss of DNA binding. 2 Publications1
Natural variantiVAR_003739143W → R in CMD1. 1 Publication1
Natural variantiVAR_003740152R → P in CMD1. 1 Publication1
Natural variantiVAR_008529154F → L in CMD1; 5% of wild-type DNA binding activity; transcriptional activation is only reduced to 26% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs137853129EnsemblClinVar.1
Natural variantiVAR_008530158A → T in CMD1; 17% of wild-type DNA binding activity; shows a 2-fold reduction in nuclear import efficiency; transcriptional activation is only reduced to 62% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs137853130EnsemblClinVar.1
Natural variantiVAR_063645165H → Q in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication1
Natural variantiVAR_008531165H → Y in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs28940282EnsemblClinVar.1
Natural variantiVAR_078491169H → P in CMD1; decreased 75% transactivational activity. 2 Publications1
Natural variantiVAR_078492169H → Q in CMD1; mild form overlapping with small patella syndrome; decreased 50% transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs2229989EnsemblClinVar.1
Natural variantiVAR_063646170P → L in CMD1. 1 PublicationCorresponds to variant dbSNP:rs1131691554EnsemblClinVar.1
Natural variantiVAR_003741170P → R in CMD1. 2 Publications1
Natural variantiVAR_063647173K → E in CMD1. 1 PublicationCorresponds to variant dbSNP:rs104894647EnsemblClinVar.1
Natural variantiVAR_003742354 – 356Missing in CMD1. 3
Natural variantiVAR_083521440 – 509Missing in CMD1. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
Z46629 mRNA Translation: CAA86598.1
S74506, S74504, S74505 Genomic DNA Translation: AAB32870.1
BT006875 mRNA Translation: AAP35521.1
CH471099 Genomic DNA Translation: EAW89102.1
BC007951 mRNA Translation: AAH07951.1
BC056420 mRNA Translation: AAH56420.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11689.1

Protein sequence database of the Protein Information Resource

More...PIRi		A55204

NCBI Reference Sequences

More...RefSeqi		NP_000337.1, NM_000346.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000245479; ENSP00000245479; ENSG00000125398

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6662

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6662

UCSC genome browser

More...UCSCi		uc002jiw.4, human

<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

<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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z46629 mRNA Translation: CAA86598.1
S74506, S74504, S74505 Genomic DNA Translation: AAB32870.1
BT006875 mRNA Translation: AAP35521.1
CH471099 Genomic DNA Translation: EAW89102.1
BC007951 mRNA Translation: AAH07951.1
BC056420 mRNA Translation: AAH56420.1
CCDSiCCDS11689.1
PIRiA55204
RefSeqiNP_000337.1, NM_000346.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S9Mmodel-A101-177[»]
1SX9model-A101-177[»]
4EUWX-ray2.77A98-181[»]
SMRiP48436
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112545, 21 interactors
DIPiDIP-61319N
ELMiP48436
IntActiP48436, 4 interactors
STRINGi9606.ENSP00000245479

PTM databases

iPTMnetiP48436
PhosphoSitePlusiP48436

Polymorphism and mutation databases

BioMutaiSOX9
DMDMi1351096

Proteomic databases

EPDiP48436
jPOSTiP48436
MassIVEiP48436
MaxQBiP48436
PaxDbiP48436
PeptideAtlasiP48436
PRIDEiP48436
ProteomicsDBi55889

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		915, 874 antibodies

The DNASU plasmid repository

More...DNASUi		6662

Genome annotation databases

EnsembliENST00000245479; ENSP00000245479; ENSG00000125398
GeneIDi6662
KEGGihsa:6662
UCSCiuc002jiw.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6662
DisGeNETi6662
EuPathDBiHostDB:ENSG00000125398.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		SOX9
GeneReviewsiSOX9
HGNCiHGNC:11204, SOX9
HPAiENSG00000125398, Tissue enhanced (salivary)
MalaCardsiSOX9
MIMi114290, phenotype
278850, phenotype
608160, gene
616425, phenotype
neXtProtiNX_P48436
OpenTargetsiENSG00000125398
Orphaneti2138, 46,XX ovotesticular disorder of sex development
393, 46,XX testicular disorder of sex development
242, 46,XY complete gonadal dysgenesis
251510, 46,XY partial gonadal dysgenesis
140, Campomelic dysplasia
718, Isolated Pierre Robin syndrome
PharmGKBiPA36041

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0527, Eukaryota
GeneTreeiENSGT00940000158269
HOGENOMiCLU_031800_0_0_1
InParanoidiP48436
OMAiDYTDHQS
OrthoDBi1030296at2759
PhylomeDBiP48436

Enzyme and pathway databases

PathwayCommonsiP48436
ReactomeiR-HSA-3769402, Deactivation of the beta-catenin transactivating complex
R-HSA-8878166, Transcriptional regulation by RUNX2
SignaLinkiP48436
SIGNORiP48436

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6662, 103 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SOX9, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SOX9

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6662
PharosiP48436, Tbio

Protein Ontology

More...PROi		PR:P48436
RNActiP48436, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125398, Expressed in ventricular zone and 231 other tissues
GenevisibleiP48436, HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071, HMG_box_dom
IPR036910, HMG_box_dom_sf
IPR029548, SOX-9
IPR022151, Sox_N
PANTHERiPTHR45803:SF1, PTHR45803:SF1, 1 hit
PfamiView protein in Pfam
PF00505, HMG_box, 1 hit
PF12444, Sox_N, 1 hit
SMARTiView protein in SMART
SM00398, HMG, 1 hit
SUPFAMiSSF47095, SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118, HMG_BOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSOX9_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48436
Secondary accession number(s): Q53Y80
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: December 2, 2020
This is version 205 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<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

3D-structure, Reference proteome

Documents

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