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Reviewed, UniProtKB/Swiss-Prot P48436 (SOX9_HUMAN)

Last modified June 16, 2009. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Transcription factor SOX-9
Gene names
Name: SOX9
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length509 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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.

Subcellular location

Nucleus Potential.

Involvement in disease

Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. 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. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseDisease mutation
   LigandDNA-binding
   Technical term3D-structure
Gene Ontology (GO)
   Biological processtranscription

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleus

Inferred from direct assay. Source: HPA

   Molecular functionspecific RNA polymerase II transcription factor activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 509509Transcription factor SOX-9
PRO_0000048739

Regions

DNA binding105 – 17369HMG box
Compositional bias339 – 37840Gln/Pro-rich
Compositional bias342 – 3465Poly-Pro

Natural variations

Natural variant1081P → L in CMD1. Ref.6
VAR_003735
Natural variant1121F → L in CMD1; loss of DNA binding. Ref.5 Ref.7 Ref.8
VAR_003736
Natural variant1121F → S in CMD1. Ref.5 Ref.7 Ref.8
VAR_003737
Natural variant1191A → V in CMD1; almost no loss of DNA binding. Ref.5 Ref.8
VAR_003738
Natural variant1431W → R in CMD1. Ref.6
VAR_003739
Natural variant1521R → P in CMD1. Ref.6
VAR_003740
Natural variant1541F → L in CMD1; 19-fold reduction in DNA binding. Ref.9
VAR_008529
Natural variant1581A → T in CMD1; 6-fold reduction in DNA binding. Ref.9
VAR_008530
Natural variant1651H → Y in CMD1; loss of DNA binding. Ref.8
VAR_008531
Natural variant1701P → R in CMD1. Ref.6 Ref.8
VAR_003741
Natural variant354 – 3563Missing in CMD1.
VAR_003742

Secondary structure

........ 509
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P48436-1 [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: 9289CFBB8D6631A2

FASTA50956,137
        10         20         30         40         50         60 
MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE NTFPKGEPDL 

        70         80         90        100        110        120 
KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK NKPHVKRPMN AFMVWAQAAR 

       130        140        150        160        170        180 
RKLADQYPHL HNAELSKTLG KLWRLLNESE KRPFVEEAER LRVQHKKDHP DYKYQPRRRK 

       190        200        210        220        230        240 
SVKNGQAEAE EATEQTHISP NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT 

       250        260        270        280        290        300 
PKTDVQPGKA DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP 

       310        320        330        340        350        360 
NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP QAPPAPQAPP 

       370        380        390        400        410        420 
QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE QLSPSHYSEQ QQHSPQQIAY 

       430        440        450        460        470        480 
SPFNLPHYSP SYPPITRSQY DYTDHQNSSS YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI 

       490        500 
ADTSGVPSIP QTHSPQHWEQ PVYTQLTRP 

« Hide

References

« Hide 'large scale' references
[1]"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene."
Foster J.W., Dominguez-Steglich M.A., Guioli S., Kowk G., Weller P.A., Stevanovic M., Weissenbach J., Mansour S., Young I.D., Goodfellow P.N., Schafer A.J.
Nature 372:525-530(1994) [PubMed: 7990924] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Testis.
[2]"Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9."
Wagner T., Wirth J., Meyer J., Zabel B., Held M., Zimmer J., Pasantes J., Bricarelli F.D., Keutel J., Hustert E., Wolf U., Tommerup N., Schempp W., Scherer G.
Cell 79:1111-1120(1994) [PubMed: 8001137] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Eye and PNS.
[4]"Mutations in SRY and SOX9: testis-determining genes."
Cameron F.J., Sinclair A.H.
Hum. Mutat. 9:388-395(1997) [PubMed: 9143916] [Abstract]
Cited for: REVIEW ON VARIANTS.
[5]"Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal."
Kwok C., Weller P.A., Guioli S., Foster J.W., Mansour S., Zuffardi O., Punnett H.H., Dominguez-Steglich M.A., Brook J.D., Young I.D., Goodfellow P.N., Schafer A.J.
Am. J. Hum. Genet. 57:1028-1036(1995) [PubMed: 7485151] [Abstract]
Cited for: VARIANTS CMD1 LEU-112 AND VAL-119.
[6]"Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations."
Meyer J., Suedbeck P., Held M., Wagner T., Schmitz M.L., Bricarelli F.D., Eggermont E., Friedrich U., Haas O.A., Kobelt A., Leroy J.G., van Maldergem L., Michel E., Mitulla B., Pfeiffer R.A., Schinzel A., Schmidt H., Scherer G.
Hum. Mol. Genet. 6:91-98(1997) [PubMed: 9002675] [Abstract]
Cited for: VARIANTS CMD1 LEU-108; ARG-143; PRO-152 AND ARG-170.
[7]"Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization."
Goji K., Nishijima E., Tsugawa C., Nishio H., Pokharel R.K., Matsuo M.
Hum. Mutat. Suppl. 1:S114-S116(1998) [PubMed: 9452059] [Abstract]
Cited for: VARIANT CMD1 SER-112.
[8]"Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia."
McDowall S., Argentaro A., Ranganathan S., Weller P., Mertin S., Mansour S., Tolmie J., Harley V.
J. Biol. Chem. 274:24023-24030(1999) [PubMed: 10446171] [Abstract]
Cited for: VARIANTS CMD1 LEU-112; VAL-119; TYR-165 AND ARG-170, 3D-STRUCTURE MODELING.
[9]"Functional analysis of two novel SOX9 mutations causing campomelic dysplasia."
Preiss A., Argentaro A., Barroso I., Schafer A.J., Clayton A.H., Ogata T., Harley V.R.
Unpublished observations (JAN-2000)
Cited for: VARIANTS CMD1 LEU-154 AND THR-158.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

Z46629 mRNA. Translation: CAA86598.1.
S74506, S74504, S74505 Genomic DNA. Translation: AAB32870.1.
BC007951 mRNA. Translation: AAH07951.1.
BC056420 mRNA. Translation: AAH56420.1.
IPIIPI00009713.
PIRA55204.
RefSeqNP_000337.1.
UniGeneHs.707993

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
1S9Mmodel-A101-177[»]
1SX9model-A101-177[»]
ModBaseSearch...

PTM databases

PhosphoSiteP48436.

Proteomic databases

PRIDEP48436.

Genome annotation databases

EnsemblENSG00000125398. Homo sapiens. [Contig view]
GeneID6662.
KEGGhsa:6662.

Organism-specific databases

GeneCardsGC17P067628.
H-InvDBHIX0014127.
HGNCHGNC:11204. SOX9.
HPAHPA001758.
MIM114290. phenotype.
608160. gene.
Orphanet140. Campomelic dysplasia.
PharmGKBPA36041.
GenAtlasSearch...

Phylogenomic databases

HOGENOMP48436.
HOVERGENP48436.
OMAP48436. GAGHVWM.

Gene expression databases

ArrayExpressP48436.
BgeeP48436.
CleanExHS_SOX9.
GermOnlineENSG00000125398. Homo sapiens.

Family and domain databases

InterProIPR000910. HMG_HMG1/HMG2.
[Graphical view]
Gene3DG3DSA:1.10.30.10. HMG-box. 1 hit.
PfamPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio25973.
SOURCESearch...

Entry information

Entry nameSOX9_HUMAN
AccessionPrimary (citable) accession number: P48436
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: June 16, 2009
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

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

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents