UniProtKB - P48436 (SOX9_HUMAN)
Protein
Transcription factor SOX-9
Gene
SOX9
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 105 – 173 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- beta-catenin binding Source: Ensembl
- bHLH transcription factor binding Source: Ensembl
- chromatin binding Source: UniProtKB
- cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- pre-mRNA intronic binding Source: Ensembl
- protein kinase A catalytic subunit binding Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anterior head development Source: Ensembl
- aortic valve morphogenesis Source: BHF-UCL
- astrocyte fate commitment Source: Ensembl
- branching involved in ureteric bud morphogenesis Source: Ensembl
- bronchus cartilage development Source: Ensembl
- cAMP-mediated signaling Source: UniProtKB
- 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
- cellular response to heparin Source: UniProtKB
- cellular response to interleukin-1 Source: UniProtKB
- cellular response to mechanical stimulus Source: UniProtKB
- cellular response to retinoic acid Source: UniProtKB
- cellular response to transforming growth factor beta stimulus Source: UniProtKB
- central nervous system development Source: GO_Central
- chondrocyte differentiation Source: UniProtKB
- chondrocyte differentiation involved in endochondral bone morphogenesis Source: UniProtKB
- chondrocyte hypertrophy Source: UniProtKB
- chromatin remodeling Source: UniProtKB
- 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: UniProtKB
- 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: UniProtKB
- extracellular matrix organization Source: Ensembl
- growth plate cartilage chondrocyte growth Source: UniProtKB
- hair follicle development Source: UniProtKB
- Harderian gland development Source: Ensembl
- heart development Source: GO_Central
- 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: UniProtKB
- mammary gland development Source: Ensembl
- metanephric nephron tubule formation Source: UniProtKB
- morphogenesis of a branching epithelium Source: UniProtKB
- morphogenesis of an epithelium Source: GO_Central
- negative regulation of apoptotic process Source: UniProtKB
- negative regulation of beta-catenin-TCF complex assembly Source: Ensembl
- negative regulation of biomineral tissue development Source: BHF-UCL
- 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 fatty acid oxidation 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: CACAO
- negative regulation of osteoblast differentiation Source: UniProtKB
- negative regulation of photoreceptor cell differentiation Source: UniProtKB
- negative regulation of pri-miRNA transcription by RNA polymerase II Source: BHF-UCL
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: CACAO
- 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: UniProtKB
- oligodendrocyte differentiation Source: GO_Central
- 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: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of cell proliferation involved in heart morphogenesis Source: Ensembl
- positive regulation of chondrocyte differentiation Source: UniProtKB
- positive regulation of chondrocyte proliferation Source: CACAO
- positive regulation of epithelial cell differentiation Source: UniProtKB
- positive regulation of epithelial cell migration Source: UniProtKB
- positive regulation of epithelial cell proliferation Source: UniProtKB
- positive regulation of extracellular matrix assembly Source: Ensembl
- positive regulation of gene expression Source: UniProtKB
- positive regulation of kidney development Source: UniProtKB
- positive regulation of male gonad development Source: UniProtKB
- positive regulation of mesenchymal cell proliferation Source: UniProtKB
- positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
- 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: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- prostate gland development Source: UniProtKB
- protein-containing complex assembly Source: UniProtKB
- 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: UniProtKB
- 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
- response to fatty acid 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: UniProtKB
- 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
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P48436 |
Reactomei | R-HSA-3769402, Deactivation of the beta-catenin transactivating complex R-HSA-8878166, Transcriptional regulation by RUNX2 |
SignaLinki | P48436 |
SIGNORi | P48436 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-9Curated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000125398.5 |
HGNCi | HGNC:11204, SOX9 |
MIMi | 608160, gene |
neXtProti | NX_P48436 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- protein-containing complex Source: UniProtKB
- transcription regulator complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078490 | 28 – 509 | Missing in CMD1. 1 PublicationAdd BLAST | 482 | |
Natural variantiVAR_063642 | 76 | A → 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_003735 | 108 | P → L in CMD1. 1 Publication | 1 | |
Natural variantiVAR_003736 | 112 | F → L in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1407667250Ensembl. | 1 | |
Natural variantiVAR_003737 | 112 | F → S in CMD1. 1 Publication | 1 | |
Natural variantiVAR_063643 | 113 | M → T in CMD1. 1 Publication | 1 | |
Natural variantiVAR_063644 | 113 | M → V in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication | 1 | |
Natural variantiVAR_003738 | 119 | A → V in CMD1; almost no loss of DNA binding. 2 Publications | 1 | |
Natural variantiVAR_003739 | 143 | W → R in CMD1. 1 Publication | 1 | |
Natural variantiVAR_003740 | 152 | R → P in CMD1. 1 Publication | 1 | |
Natural variantiVAR_008529 | 154 | F → 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_008530 | 158 | A → 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_063645 | 165 | H → Q in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication | 1 | |
Natural variantiVAR_008531 | 165 | H → Y in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs28940282EnsemblClinVar. | 1 | |
Natural variantiVAR_078491 | 169 | H → P in CMD1; decreased 75% transactivational activity. 2 Publications | 1 | |
Natural variantiVAR_078492 | 169 | H → Q in CMD1; mild form overlapping with small patella syndrome; decreased 50% transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs2229989EnsemblClinVar. | 1 | |
Natural variantiVAR_063646 | 170 | P → L in CMD1. 1 PublicationCorresponds to variant dbSNP:rs1131691554EnsemblClinVar. | 1 | |
Natural variantiVAR_003741 | 170 | P → R in CMD1. 2 Publications | 1 | |
Natural variantiVAR_063647 | 173 | K → E in CMD1. 1 PublicationCorresponds to variant dbSNP:rs104894647EnsemblClinVar. | 1 | |
Natural variantiVAR_003742 | 354 – 356 | Missing in CMD1. | 3 | |
Natural variantiVAR_083521 | 440 – 509 | Missing in CMD1. 1 PublicationAdd BLAST | 70 |
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 OMIM46,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 OMIMMutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 278 | L → S: Impaired ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 282 | V → D: Impaired ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 290 | D → A: Impaired ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 293 | E → M or T: Impaired ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 294 | F → L: Does not affect ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 294 | F → S or A: Impaired ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 296 | Q → R: Impaired, but not abolished, ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 297 | Y → L, S, D or F: Impaired ability to activate transcription in vitro. 1 Publication | 1 | |
Mutagenesisi | 298 | L → D: Impaired ability to activate transcription in vitro. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 6662 |
GeneReviewsi | SOX9 |
MalaCardsi | SOX9 |
MIMi | 114290, phenotype 278850, phenotype 616425, phenotype |
OpenTargetsi | ENSG00000125398 |
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 |
PharmGKBi | PA36041 |
Miscellaneous databases
Pharosi | P48436, Tbio |
Polymorphism and mutation databases
BioMutai | SOX9 |
DMDMi | 1351096 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048739 | 1 – 509 | Transcription factor SOX-9Add BLAST | 509 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 64 | PhosphoserineBy similarity | 1 | |
Modified residuei | 211 | PhosphoserineBy similarity | 1 | |
Cross-linki | 398 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity |
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 conjugationProteomic databases
EPDi | P48436 |
jPOSTi | P48436 |
MassIVEi | P48436 |
MaxQBi | P48436 |
PaxDbi | P48436 |
PeptideAtlasi | P48436 |
PRIDEi | P48436 |
ProteomicsDBi | 55889 |
PTM databases
iPTMneti | P48436 |
PhosphoSitePlusi | P48436 |
Expressioni
Gene expression databases
Bgeei | ENSG00000125398, Expressed in ventricular zone and 231 other tissues |
Genevisiblei | P48436, HS |
Organism-specific databases
HPAi | ENSG00000125398, Tissue enhanced (salivary) |
Interactioni
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 PublicationsBinary interactionsi
P48436
With | #Exp. | IntAct |
---|---|---|
Arid5a [Q3U108] from Mus musculus. | 3 | EBI-3920028,EBI-14022639 |
GO - Molecular functioni
- beta-catenin binding Source: Ensembl
- bHLH transcription factor binding Source: Ensembl
- protein kinase A catalytic subunit binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112545, 21 interactors |
DIPi | DIP-61319N |
ELMi | P48436 |
IntActi | P48436, 4 interactors |
STRINGi | 9606.ENSP00000245479 |
Miscellaneous databases
RNActi | P48436, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P48436 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 63 – 103 | Dimerization (DIM)1 PublicationAdd BLAST | 41 | |
Regioni | 63 – 103 | PQA1 PublicationAdd BLAST | 41 | |
Regioni | 224 – 307 | Transactivation domain (TAM)1 PublicationAdd BLAST | 84 | |
Regioni | 394 – 509 | Transactivation domain (TAC)1 PublicationAdd BLAST | 116 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 275 – 284 | 9aaTAD 11 Publication | 10 | |
Motifi | 290 – 298 | 9aaTAD 21 Publication | 9 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 339 – 378 | Gln/Pro-richAdd BLAST | 40 | |
Compositional biasi | 342 – 346 | Poly-Pro | 5 |
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
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000158269 |
HOGENOMi | CLU_031800_0_0_1 |
InParanoidi | P48436 |
OMAi | DYTDHQS |
OrthoDBi | 1030296at2759 |
PhylomeDBi | P48436 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR029548, SOX-9 IPR022151, Sox_N |
PANTHERi | PTHR45803:SF1, PTHR45803:SF1, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit PF12444, Sox_N, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
P48436-1 [UniParc]FASTAAdd to basket
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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078490 | 28 – 509 | Missing in CMD1. 1 PublicationAdd BLAST | 482 | |
Natural variantiVAR_063642 | 76 | A → 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_003735 | 108 | P → L in CMD1. 1 Publication | 1 | |
Natural variantiVAR_003736 | 112 | F → L in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1407667250Ensembl. | 1 | |
Natural variantiVAR_003737 | 112 | F → S in CMD1. 1 Publication | 1 | |
Natural variantiVAR_063643 | 113 | M → T in CMD1. 1 Publication | 1 | |
Natural variantiVAR_063644 | 113 | M → V in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication | 1 | |
Natural variantiVAR_003738 | 119 | A → V in CMD1; almost no loss of DNA binding. 2 Publications | 1 | |
Natural variantiVAR_003739 | 143 | W → R in CMD1. 1 Publication | 1 | |
Natural variantiVAR_003740 | 152 | R → P in CMD1. 1 Publication | 1 | |
Natural variantiVAR_008529 | 154 | F → 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_008530 | 158 | A → 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_063645 | 165 | H → Q in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication | 1 | |
Natural variantiVAR_008531 | 165 | H → Y in CMD1; loss of DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs28940282EnsemblClinVar. | 1 | |
Natural variantiVAR_078491 | 169 | H → P in CMD1; decreased 75% transactivational activity. 2 Publications | 1 | |
Natural variantiVAR_078492 | 169 | H → Q in CMD1; mild form overlapping with small patella syndrome; decreased 50% transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs2229989EnsemblClinVar. | 1 | |
Natural variantiVAR_063646 | 170 | P → L in CMD1. 1 PublicationCorresponds to variant dbSNP:rs1131691554EnsemblClinVar. | 1 | |
Natural variantiVAR_003741 | 170 | P → R in CMD1. 2 Publications | 1 | |
Natural variantiVAR_063647 | 173 | K → E in CMD1. 1 PublicationCorresponds to variant dbSNP:rs104894647EnsemblClinVar. | 1 | |
Natural variantiVAR_003742 | 354 – 356 | Missing in CMD1. | 3 | |
Natural variantiVAR_083521 | 440 – 509 | Missing in CMD1. 1 PublicationAdd BLAST | 70 |
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 |
CCDSi | CCDS11689.1 |
PIRi | A55204 |
RefSeqi | NP_000337.1, NM_000346.3 |
Genome annotation databases
Ensembli | ENST00000245479; ENSP00000245479; ENSG00000125398 |
GeneIDi | 6662 |
KEGGi | hsa:6662 |
UCSCi | uc002jiw.4, human |
Similar proteinsi
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 |
CCDSi | CCDS11689.1 |
PIRi | A55204 |
RefSeqi | NP_000337.1, NM_000346.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1S9M | model | - | A | 101-177 | [»] | |
1SX9 | model | - | A | 101-177 | [»] | |
4EUW | X-ray | 2.77 | A | 98-181 | [»] | |
SMRi | P48436 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112545, 21 interactors |
DIPi | DIP-61319N |
ELMi | P48436 |
IntActi | P48436, 4 interactors |
STRINGi | 9606.ENSP00000245479 |
PTM databases
iPTMneti | P48436 |
PhosphoSitePlusi | P48436 |
Polymorphism and mutation databases
BioMutai | SOX9 |
DMDMi | 1351096 |
Proteomic databases
EPDi | P48436 |
jPOSTi | P48436 |
MassIVEi | P48436 |
MaxQBi | P48436 |
PaxDbi | P48436 |
PeptideAtlasi | P48436 |
PRIDEi | P48436 |
ProteomicsDBi | 55889 |
Protocols and materials databases
Antibodypediai | 915, 874 antibodies |
DNASUi | 6662 |
Genome annotation databases
Ensembli | ENST00000245479; ENSP00000245479; ENSG00000125398 |
GeneIDi | 6662 |
KEGGi | hsa:6662 |
UCSCi | uc002jiw.4, human |
Organism-specific databases
CTDi | 6662 |
DisGeNETi | 6662 |
EuPathDBi | HostDB:ENSG00000125398.5 |
GeneCardsi | SOX9 |
GeneReviewsi | SOX9 |
HGNCi | HGNC:11204, SOX9 |
HPAi | ENSG00000125398, Tissue enhanced (salivary) |
MalaCardsi | SOX9 |
MIMi | 114290, phenotype 278850, phenotype 608160, gene 616425, phenotype |
neXtProti | NX_P48436 |
OpenTargetsi | ENSG00000125398 |
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 |
PharmGKBi | PA36041 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000158269 |
HOGENOMi | CLU_031800_0_0_1 |
InParanoidi | P48436 |
OMAi | DYTDHQS |
OrthoDBi | 1030296at2759 |
PhylomeDBi | P48436 |
Enzyme and pathway databases
PathwayCommonsi | P48436 |
Reactomei | R-HSA-3769402, Deactivation of the beta-catenin transactivating complex R-HSA-8878166, Transcriptional regulation by RUNX2 |
SignaLinki | P48436 |
SIGNORi | P48436 |
Miscellaneous databases
BioGRID-ORCSi | 6662, 103 hits in 872 CRISPR screens |
ChiTaRSi | SOX9, human |
GeneWikii | SOX9 |
GenomeRNAii | 6662 |
Pharosi | P48436, Tbio |
PROi | PR:P48436 |
RNActi | P48436, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125398, Expressed in ventricular zone and 231 other tissues |
Genevisiblei | P48436, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR029548, SOX-9 IPR022151, Sox_N |
PANTHERi | PTHR45803:SF1, PTHR45803:SF1, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit PF12444, Sox_N, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX9_HUMAN | |
Accessioni | P48436Primary (citable) accession number: P48436 Secondary accession number(s): Q53Y80 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations