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UniProtKB - P48436 (SOX9_HUMAN)

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Protein

Transcription factor SOX-9

Gene

SOX9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional regulator (PubMed:24038782). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Plays a role in chondrocyte differentiation (By similarity). Important for normal skeletal development (PubMed:24038782).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi105 – 173HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-9Curated
Gene namesi
Name:SOX9Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000125398.5
HGNCiHGNC:11204 SOX9
MIMi608160 gene
neXtProtiNX_P48436

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Campomelic dysplasia (CMD1)12 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.
See also OMIM:114290
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 Publications1
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:rs1131691554Ensembl.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
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).
See also OMIM:278850
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.
See also OMIM:616425

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6662
GeneReviewsiSOX9
MalaCardsiSOX9
MIMi114290 phenotype
278850 phenotype
616425 phenotype
OpenTargetsiENSG00000125398
Orphaneti2138 46,XX ovotesticular disorder of sex development
393 46,XX testicular disorder of sex development
140 Campomelic dysplasia
718 Isolated Pierre Robin syndrome
PharmGKBiPA36041

Polymorphism and mutation databases

BioMutaiSOX9
DMDMi1351096

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487391 – 509Transcription factor SOX-9Add BLAST509

Proteomic databases

EPDiP48436
MaxQBiP48436
PaxDbiP48436
PeptideAtlasiP48436
PRIDEiP48436
ProteomicsDBi55889

PTM databases

iPTMnetiP48436
PhosphoSitePlusiP48436

Expressioni

Gene expression databases

BgeeiENSG00000125398
CleanExiHS_SOX9
GenevisibleiP48436 HS

Organism-specific databases

HPAiCAB022456
CAB068240
HPA001758

Interactioni

Subunit structurei

Interacts (via C-terminus) with ZNF219.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
Arid5aQ3U1083EBI-3920028,EBI-14022639From Mus musculus.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112545, 19 interactors
DIPiDIP-61319N
ELMiP48436
IntActiP48436, 3 interactors
STRINGi9606.ENSP00000245479

Structurei

Secondary structure

1509
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi111 – 126Combined sources16
Helixi132 – 143Combined sources12
Helixi148 – 168Combined sources21

3D structure databases

ProteinModelPortaliP48436
SMRiP48436
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi339 – 378Gln/Pro-richAdd BLAST40
Compositional biasi342 – 346Poly-Pro5

Phylogenomic databases

eggNOGiKOG0527 Eukaryota
ENOG410XT0K LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000108876
HOVERGENiHBG002061
InParanoidiP48436
KOiK18435
OMAiGTEQTHI
OrthoDBiEOG091G0EKD
PhylomeDBiP48436

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
PANTHERiPTHR10270:SF212 PTHR10270:SF212, 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

Sequencei

Sequence statusi: Complete.

P48436-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:509
Mass (Da):56,137
Last modified:February 1, 1996 - v1
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 Publications1
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:rs1131691554Ensembl.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

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
UniGeneiHs.647409

Genome annotation databases

EnsembliENST00000245479; ENSP00000245479; ENSG00000125398
ENST00000645356; ENSP00000495527; ENSG00000125398
GeneIDi6662
KEGGihsa:6662
UCSCiuc002jiw.4 human

Similar proteinsi

Entry informationi

Entry nameiSOX9_HUMAN
AccessioniPrimary (citable) accession number: P48436
Secondary accession number(s): Q53Y80
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: July 18, 2018
This is version 188 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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