SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000496 
UniProt Accession
Theoretical PI
6.31  
Molecular Weight
56137 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
SOX9 
Gene Synonyms/Alias
 
Protein Name
Transcription factor SOX-9 
Protein Synonyms/Alias
 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:17;70117161-70122561;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
Levels of WT1 + KTS, SRY and SOX9 are required for normal Sertoli cell maturation, and subsequent normal spermatogenesis. 
The information of related literatures
1. V. Schumacher, B. Gueler, L. H. Looijenga, J. U. Becker, K. Amann, R. Engers, J. Dotsch, H. Stoop, W. Schulz and B. Royer-Pokora (2008) Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. Mol Reprod Dev 75(9): 1484-94. 

Abstract
Frasier syndrome (FS) is characterized by chronic renal failure in early adulthood, varying degrees of gonadal dysgenesis, and a high risk for gonadal germ cell malignancies, particularly gonadoblastoma. Although it is known to arise from heterozygous splice mutations in intron 9 of the Wilms' tumor gene 1 (WT1), the mechanisms by which these mutations result in gonadal dysgenesis in humans remain obscure. Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells. These findings provide the first confirmation in humans of the results obtained by others in mice. Consequently, Sertoli cells fail to form the specialized environment within the seminiferous tubules that normally houses developing germ cells. Thus, germ cells are unable to fully mature and are blocked at the spermatogonial-spermatocyte stage. Concomitantly, subpopulations of the malignant counterpart of primordial germ cells/gonocytes, the intratubular germ cell neoplasia unclassified type (ITGCN), are identified. Furthermore, dysregulated Leydig cells produce insufficient levels of testosterone, resulting in hypospadias. Collectively, the impaired spermatogenesis, hypospadias and ITGCN comprise part of the developmental disorder known as 'testicular dysgenesis syndrome' (TDS), which arises during early fetal life. The data presented here show that critical levels of WT1 + KTS, SRY and SOX9 are required for normal Sertoli cell maturation, and subsequent normal spermatogenesis. To further study the function of human Sertoli cells in the future, we have established a human cell line. PMID: [18271004] 

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Figures for illustrating the function of this protein/gene
Function
Plays an important role in the normal skeletaldevelopment. May regulate the expression of other genes involvedin chondrogenesis by acting as a transcription factor for thesegenes. 
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Subcellular Location
Nucleus (Potential). 
Tissue Specificity
 
Gene Ontology
GO IDGO termEvidence
GO:0016585 C:chromatin remodeling complex IDA:UniProtKB.
GO:0003682 F:chromatin binding IDA:UniProtKB.
GO:0001046 F:core promoter sequence-specific DNA binding IDA:UniProtKB.
GO:0001158 F:enhancer sequence-specific DNA binding ISS:UniProtKB.
GO:0004672 F:protein kinase activity ISS:UniProtKB.
GO:0001077 F:RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA:UniProtKB.
GO:0003705 F:RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA:UniProtKB.
GO:0060018 P:astrocyte fate commitment IEA:Compara.
GO:0001658 P:branching involved in ureteric bud morphogenesis IEA:Compara.
GO:0019933 P:cAMP-mediated signaling IDA:UniProtKB.
GO:0001502 P:cartilage condensation ISS:UniProtKB.
GO:0001708 P:cell fate specification ISS:UniProtKB.
GO:0071364 P:cellular response to epidermal growth factor stimulus ISS:UniProtKB.
GO:0071504 P:cellular response to heparin ISS:UniProtKB.
GO:0071347 P:cellular response to interleukin-1 IEP:UniProtKB.
GO:0071260 P:cellular response to mechanical stimulus ISS:UniProtKB.
GO:0071300 P:cellular response to retinoic acid IEP:UniProtKB.
GO:0071560 P:cellular response to transforming growth factor beta stimulus IDA:UniProtKB.
GO:0003413 P:chondrocyte differentiation involved in endochondral bone morphogenesis IMP:UniProtKB.
GO:0003415 P:chondrocyte hypertrophy ISS:UniProtKB.
GO:0006338 P:chromatin remodeling IDA:UniProtKB.
GO:0090103 P:cochlea morphogenesis ISS:UniProtKB.
GO:0003203 P:endocardial cushion morphogenesis ISS:UniProtKB.
GO:0031018 P:endocrine pancreas development IEA:Compara.
GO:0007173 P:epidermal growth factor receptor signaling pathway ISS:UniProtKB.
GO:0060517 P:epithelial cell proliferation involved in prostatic bud elongation ISS:UniProtKB.
GO:0001837 P:epithelial to mesenchymal transition ISS:UniProtKB.
GO:0070371 P:ERK1 and ERK2 cascade ISS:UniProtKB.
GO:0030198 P:extracellular matrix organization IEA:Compara.
GO:0001942 P:hair follicle development ISS:UniProtKB.
GO:0003188 P:heart valve formation IEA:Compara.
GO:0003179 P:heart valve morphogenesis ISS:UniProtKB.
GO:0060729 P:intestinal epithelial structure maintenance ISS:UniProtKB.
GO:0035622 P:intrahepatic bile duct development IEA:Compara.
GO:0060174 P:limb bud formation IEA:Compara.
GO:0019100 P:male germ-line sex determination ISS:UniProtKB.
GO:0030879 P:mammary gland development IEA:Compara.
GO:0072289 P:metanephric nephron tubule formation ISS:UniProtKB.
GO:0043066 P:negative regulation of apoptotic process IMP:UniProtKB.
GO:0070168 P:negative regulation of biomineral tissue development ISS:UniProtKB.
GO:0030502 P:negative regulation of bone mineralization IEA:Compara.
GO:0090090 P:negative regulation of canonical Wnt receptor signaling pathway ISS:UniProtKB.
GO:0032331 P:negative regulation of chondrocyte differentiation ISS:UniProtKB.
GO:0050680 P:negative regulation of epithelial cell proliferation ISS:UniProtKB.
GO:0002683 P:negative regulation of immune system process ISS:UniProtKB.
GO:0045662 P:negative regulation of myoblast differentiation ISS:UniProtKB.
GO:0030279 P:negative regulation of ossification ISS:UniProtKB.
GO:0046533 P:negative regulation of photoreceptor cell differentiation ISS:UniProtKB.
GO:0045892 P:negative regulation of transcription, DNA-dependent IMP:UniProtKB.
GO:0014032 P:neural crest cell development IEA:Compara.
GO:0030903 P:notochord development IEA:Compara.
GO:0006334 P:nucleosome assembly IDA:UniProtKB.
GO:0048709 P:oligodendrocyte differentiation IEA:Compara.
GO:0001503 P:ossification IEA:Compara.
GO:0030916 P:otic vesicle formation ISS:UniProtKB.
GO:0090190 P:positive regulation of branching involved in ureteric bud morphogenesis ISS:UniProtKB.
GO:0061036 P:positive regulation of cartilage development IDA:UniProtKB.
GO:2000138 P:positive regulation of cell proliferation involved in heart morphogenesis IEA:Compara.
GO:0032332 P:positive regulation of chondrocyte differentiation IDA:UniProtKB.
GO:0030858 P:positive regulation of epithelial cell differentiation ISS:UniProtKB.
GO:0010634 P:positive regulation of epithelial cell migration IMP:UniProtKB.
GO:0050679 P:positive regulation of epithelial cell proliferation IEP:UniProtKB.
GO:2000020 P:positive regulation of male gonad development IDA:UniProtKB.
GO:0002053 P:positive regulation of mesenchymal cell proliferation ISS:UniProtKB.
GO:2000741 P:positive regulation of mesenchymal stem cell differentiation IDA:UniProtKB.
GO:0014068 P:positive regulation of phosphatidylinositol 3-kinase cascade ISS:UniProtKB.
GO:0045732 P:positive regulation of protein catabolic process IEA:Compara.
GO:0001934 P:positive regulation of protein phosphorylation ISS:UniProtKB.
GO:0006461 P:protein complex assembly IDA:UniProtKB.
GO:0043491 P:protein kinase B signaling cascade IEA:Compara.
GO:0030155 P:regulation of cell adhesion IEA:Compara.
GO:0010564 P:regulation of cell cycle process IMP:UniProtKB.
GO:0060784 P:regulation of cell proliferation involved in tissue homeostasis ISS:UniProtKB.
GO:0072034 P:renal vesicle induction ISS:UniProtKB.
GO:0060221 P:retinal rod cell differentiation ISS:UniProtKB.
GO:0060009 P:Sertoli cell development IEA:Compara.
GO:0060008 P:Sertoli cell differentiation ISS:UniProtKB.
GO:0035019 P:somatic stem cell maintenance ISS:UniProtKB.
GO:0007283 P:spermatogenesis ISS:UniProtKB.
GO:0072197 P:ureter morphogenesis IEA:Compara.
GO:0072190 P:ureter urothelium development IEA:Compara.
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Interpro
IPR009071;    HMG_superfamily.
IPR022151;    Sox_N.
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Pfam
PF00505;    HMG_box;    1.
PF12444;    Sox_N;    1.
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SMART
SM00398;    HMG;    1.
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PROSITE
PS50118;    HMG_BOX_2;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    509       Transcription factor SOX-9.
                             /FTId=PRO_0000048739.
DNA_BIND    105    173       HMG box.
COMPBIAS    339    378       Gln/Pro-rich.
COMPBIAS    342    346       Poly-Pro.
VARIANT      76     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).
                             /FTId=VAR_063642.
VARIANT     108    108       P -> L (in CMD1).
                             /FTId=VAR_003735.
VARIANT     112    112       F -> L (in CMD1; loss of DNA binding).
                             /FTId=VAR_003736.
VARIANT     112    112       F -> S (in CMD1).
                             /FTId=VAR_003737.
VARIANT     113    113       M -> T (in CMD1).
                             /FTId=VAR_063643.
VARIANT     113    113       M -> V (in CMD1; residual DNA binding and
                             transactivation of regulated genes).
                             /FTId=VAR_063644.
VARIANT     119    119       A -> V (in CMD1; almost no loss of DNA
                             binding).
                             /FTId=VAR_003738.
VARIANT     143    143       W -> R (in CMD1).
                             /FTId=VAR_003739.
VARIANT     152    152       R -> P (in CMD1).
                             /FTId=VAR_003740.
VARIANT     154    154       F -> L (in CMD1; 5% of wild-type DNA
                             binding activity; transcriptional
                             activation is only reduced to 26% of
                             wild-type activity).
                             /FTId=VAR_008529.
VARIANT     158    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).
                             /FTId=VAR_008530.
VARIANT     165    165       H -> Q (in CMD1; residual DNA binding and
                             transactivation of regulated genes).
                             /FTId=VAR_063645.
VARIANT     165    165       H -> Y (in CMD1; loss of DNA binding;
                             dbSNP:rs28940282).
                             /FTId=VAR_008531.
VARIANT     170    170       P -> L (in CMD1).
                             /FTId=VAR_063646.
VARIANT     170    170       P -> R (in CMD1).
                             /FTId=VAR_003741.
VARIANT     173    173       K -> E (in CMD1).
                             /FTId=VAR_063647.
VARIANT     354    356       Missing (in CMD1).
                             /FTId=VAR_003742.
HELIX       111    126
HELIX       132    143
HELIX       148    168
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Nucleotide Sequence
Length: 3923 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 509 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
Other Protein-Protein interaction resources
String database  
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