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Protein Page:
SOX9 (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
SOX9 Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. Defects in SOX9 are the cause of campomelic dysplasia (CMD1). CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male- to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2). SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Cellular Component: transcription factor complex; protein complex; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; beta-catenin binding; bHLH transcription factor binding; chromatin binding; transcription factor activity; protein kinase activity
Biological Process: prostate gland development; extracellular matrix organization and biogenesis; somatic stem cell maintenance; positive regulation of transcription, DNA-dependent; astrocyte fate commitment; negative regulation of chondrocyte differentiation; notochord development; regulation of apoptosis; negative regulation of bone mineralization; hair follicle development; positive regulation of mesenchymal cell proliferation; tissue homeostasis; negative regulation of ossification; positive regulation of epithelial cell differentiation; oligodendrocyte differentiation; protein complex assembly; cartilage condensation; negative regulation of photoreceptor cell differentiation; positive regulation of phosphoinositide 3-kinase cascade; nucleosome assembly; positive regulation of chondrocyte differentiation; retina development in camera-type eye; positive regulation of protein catabolic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of epithelial cell proliferation; negative regulation of apoptosis; transcription from RNA polymerase II promoter; neural crest cell development; Sertoli cell differentiation; cell fate specification; negative regulation of immune system process; signal transduction; cAMP-mediated signaling; mammary gland development; positive regulation of cell proliferation; protein kinase B signaling cascade; otic vesicle formation; skeletal development; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; regulation of cell adhesion; ossification; male gonad development; endocrine pancreas development; Sertoli cell development; regulation of cell proliferation; male germ-line sex determination; chromatin remodeling; limb bud formation; ureteric bud branching; cartilage development; epithelial to mesenchymal transition; spermatogenesis; positive regulation of protein amino acid phosphorylation; negative regulation of myoblast differentiation
Reference #:  P48436 (UniProtKB)
Alt. Names/Synonyms: CMD1; CMPD1; SOX9; SRA1; SRY (sex determining region Y)-box 9; SRY (sex-determining region Y)-box 9 protein; SRY-related HMG-box, gene 9; Transcription factor SOX-9; transcription factor SOX9
Gene Symbols: SOX9
Molecular weight: 56,137 Da
Basal Isoelectric point: 6.31  Predict pI for various phosphorylation states
Select Structure to View Below

SOX9

Protein Structure Not Found.


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Sites Implicated In
cytoskeletal reorganization: S181‑p
transcription, induced: S181‑p
activity, induced: S181‑p
intracellular localization: S64‑p, S181‑p
molecular association, regulation: S64‑p, S181‑p

Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
1 0 K61-a PKGEPDLkKEsEEDK
1 0 K61 PKGEPDLKKEsEEDK
5 0 S64-p EPDLkKEsEEDKFPV
1 0 R74 DKFPVCIREAVSQVL
0 1 K82-u EAVSQVLkGYDWTLV
1 0 R152 LLNESEKRPFVEEAE
1 0 R177 PDYKYQPRRRKsVKN
1 0 R178 DYKYQPRRRKsVKNG
1 0 R179 YKYQPRRRKsVKNGQ
7 0 S181-p YQPRRRKsVKNGQAE
0 1 S199-p ATEQTHIsPNAIFKA
1 0 S211 FKALQADSPHSSSGM
0 1 K249-u KTDVQPGkADLkREG
1 0 K253-a QPGkADLkREGRPLP
1 0 K253 QPGkADLKREGRPLP
1 0 K398 QSQRTHIKTEQLSPS
1 0 K398-a QSQRTHIkTEQLSPS
  mouse

 
K61 PKGEPDLKKEsEEDK
K61 PKGEPDLKKEsEEDK
S64-p EPDLKKEsEEDKFPV
R74-m DKFPVCIrEAVSQVL
K82 EAVSQVLKGYDWTLV
R152-m LLNESEKrPFVEEAE
R177-m PDYKYQPrrrKsVKN
R178-m DYKYQPrrrKsVKNG
R179-m YKYQPrrrKsVKNGQ
S181-p YQPrrrKsVKNGQAE
S199-p ATEQTHIsPNAIFKA
S211-p FKALQADsPHSSSGM
K249 KTDVQAGKVDLKREG
K253 QAGKVDLKREGRPLA
K253 QAGKVDLKREGRPLA
K396 QSQRTHIKTEQLSPS
K396 QSQRTHIKTEQLSPS
  chicken

 
K61 PKGDPDLKKEsDEDK
K61-s PKGDPDLkKEsDEDK
S64-p DPDLkKEsDEDKFPV
R74 DKFPVCIREAVSQVL
K82 EAVSQVLKGYDWTLV
R152 LLNESEKRPFVEEAE
R177 PDYKYQPRRRKsVKN
R178 DYKYQPRRRKsVKNG
R179 YKYQPRRRKsVKNGQ
S181-p YQPRRRKsVKNGQSE
S199 GSEQTHISPNAIFKA
S211 FKALQADSPQSSSSI
K250 TDAQQPGKQDLkREG
K254 QPGKQDLKREGRPLA
K254-s QPGKQDLkREGRPLA
K376-s AQQRPHIkTEQLSPS
K376 AQQRPHIKTEQLSPS
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