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P48436

- SOX9_HUMAN

UniProt

P48436 - SOX9_HUMAN

Protein

Transcription factor SOX-9

Gene

SOX9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    Functioni

    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.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi105 – 17369HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: UniProtKB
    2. core promoter sequence-specific DNA binding Source: UniProtKB
    3. enhancer binding Source: UniProtKB
    4. enhancer sequence-specific DNA binding Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. protein kinase A catalytic subunit binding Source: UniProtKB
    7. protein kinase activity Source: UniProtKB
    8. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
    9. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: UniProtKB
    10. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. astrocyte fate commitment Source: Ensembl
    2. branching involved in ureteric bud morphogenesis Source: Ensembl
    3. cAMP-mediated signaling Source: UniProtKB
    4. cartilage condensation Source: UniProtKB
    5. cartilage development Source: UniProtKB
    6. cell fate specification Source: UniProtKB
    7. cellular response to epidermal growth factor stimulus Source: UniProtKB
    8. cellular response to heparin Source: UniProtKB
    9. cellular response to interleukin-1 Source: UniProtKB
    10. cellular response to mechanical stimulus Source: UniProtKB
    11. cellular response to retinoic acid Source: UniProtKB
    12. cellular response to transforming growth factor beta stimulus Source: UniProtKB
    13. chondrocyte differentiation involved in endochondral bone morphogenesis Source: UniProtKB
    14. chondrocyte hypertrophy Source: UniProtKB
    15. chromatin remodeling Source: UniProtKB
    16. cochlea morphogenesis Source: UniProtKB
    17. endocardial cushion morphogenesis Source: UniProtKB
    18. endocrine pancreas development Source: Ensembl
    19. epidermal growth factor receptor signaling pathway Source: UniProtKB
    20. epithelial cell proliferation involved in prostatic bud elongation Source: UniProtKB
    21. epithelial to mesenchymal transition Source: UniProtKB
    22. ERK1 and ERK2 cascade Source: UniProtKB
    23. extracellular matrix organization Source: Ensembl
    24. hair follicle development Source: UniProtKB
    25. heart valve development Source: UniProtKB
    26. heart valve formation Source: Ensembl
    27. heart valve morphogenesis Source: UniProtKB
    28. intestinal epithelial structure maintenance Source: UniProtKB
    29. intrahepatic bile duct development Source: Ensembl
    30. limb bud formation Source: Ensembl
    31. male germ-line sex determination Source: UniProtKB
    32. male gonad development Source: UniProtKB
    33. mammary gland development Source: Ensembl
    34. metanephric nephron tubule formation Source: UniProtKB
    35. morphogenesis of a branching epithelium Source: UniProtKB
    36. negative regulation of apoptotic process Source: UniProtKB
    37. negative regulation of biomineral tissue development Source: UniProtKB
    38. negative regulation of bone mineralization Source: Ensembl
    39. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
    40. negative regulation of chondrocyte differentiation Source: UniProtKB
    41. negative regulation of epithelial cell proliferation Source: UniProtKB
    42. negative regulation of immune system process Source: UniProtKB
    43. negative regulation of myoblast differentiation Source: UniProtKB
    44. negative regulation of ossification Source: UniProtKB
    45. negative regulation of photoreceptor cell differentiation Source: UniProtKB
    46. negative regulation of transcription, DNA-templated Source: UniProtKB
    47. neural crest cell development Source: Ensembl
    48. notochord development Source: Ensembl
    49. nucleosome assembly Source: UniProtKB
    50. oligodendrocyte differentiation Source: Ensembl
    51. ossification Source: Ensembl
    52. otic vesicle formation Source: UniProtKB
    53. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    54. positive regulation of cartilage development Source: UniProtKB
    55. positive regulation of cell proliferation Source: UniProtKB
    56. positive regulation of cell proliferation involved in heart morphogenesis Source: Ensembl
    57. positive regulation of chondrocyte differentiation Source: UniProtKB
    58. positive regulation of epithelial cell differentiation Source: UniProtKB
    59. positive regulation of epithelial cell migration Source: UniProtKB
    60. positive regulation of epithelial cell proliferation Source: UniProtKB
    61. positive regulation of kidney development Source: UniProtKB
    62. positive regulation of male gonad development Source: UniProtKB
    63. positive regulation of mesenchymal cell proliferation Source: UniProtKB
    64. positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
    65. positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
    66. positive regulation of protein catabolic process Source: Ensembl
    67. positive regulation of protein phosphorylation Source: UniProtKB
    68. positive regulation of transcription, DNA-templated Source: UniProtKB
    69. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    70. prostate gland development Source: UniProtKB
    71. protein complex assembly Source: UniProtKB
    72. protein kinase B signaling Source: Ensembl
    73. regulation of apoptotic process Source: UniProtKB
    74. regulation of cell adhesion Source: Ensembl
    75. regulation of cell cycle process Source: UniProtKB
    76. regulation of cell proliferation Source: UniProtKB
    77. regulation of cell proliferation involved in tissue homeostasis Source: UniProtKB
    78. renal vesicle induction Source: UniProtKB
    79. retina development in camera-type eye Source: UniProtKB
    80. retinal rod cell differentiation Source: UniProtKB
    81. Sertoli cell development Source: Ensembl
    82. Sertoli cell differentiation Source: UniProtKB
    83. signal transduction Source: UniProtKB
    84. skeletal system development Source: UniProtKB
    85. somatic stem cell maintenance Source: UniProtKB
    86. spermatogenesis Source: UniProtKB
    87. tissue homeostasis Source: UniProtKB
    88. transcription from RNA polymerase II promoter Source: GOC
    89. ureter morphogenesis Source: Ensembl
    90. ureter urothelium development Source: Ensembl

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiP48436.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor SOX-9
    Gene namesi
    Name:SOX9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:11204. SOX9.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. protein complex Source: UniProtKB
    3. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Campomelic dysplasia (CMD1) [MIM:114290]: 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, micrognathia, 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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761A → 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 Publication
    VAR_063642
    Natural varianti108 – 1081P → L in CMD1. 1 Publication
    VAR_003735
    Natural varianti112 – 1121F → L in CMD1; loss of DNA binding. 2 Publications
    VAR_003736
    Natural varianti112 – 1121F → S in CMD1. 1 Publication
    VAR_003737
    Natural varianti113 – 1131M → T in CMD1. 1 Publication
    VAR_063643
    Natural varianti113 – 1131M → V in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication
    VAR_063644
    Natural varianti119 – 1191A → V in CMD1; almost no loss of DNA binding. 2 Publications
    VAR_003738
    Natural varianti143 – 1431W → R in CMD1. 1 Publication
    VAR_003739
    Natural varianti152 – 1521R → P in CMD1. 1 Publication
    VAR_003740
    Natural varianti154 – 1541F → L in CMD1; 5% of wild-type DNA binding activity; transcriptional activation is only reduced to 26% of wild-type activity. 1 Publication
    VAR_008529
    Natural varianti158 – 1581A → 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 Publication
    VAR_008530
    Natural varianti165 – 1651H → Q in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication
    VAR_063645
    Natural varianti165 – 1651H → Y in CMD1; loss of DNA binding. 2 Publications
    Corresponds to variant rs28940282 [ dbSNP | Ensembl ].
    VAR_008531
    Natural varianti170 – 1701P → L in CMD1. 1 Publication
    VAR_063646
    Natural varianti170 – 1701P → R in CMD1. 2 Publications
    VAR_003741
    Natural varianti173 – 1731K → E in CMD1. 1 Publication
    VAR_063647
    Natural varianti354 – 3563Missing in CMD1.
    VAR_003742
    46,XX sex reversal 2 (SRXX2) [MIM:278850]: A condition in which male gonads develop in a genetic female (female to male sex reversal).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi114290. phenotype.
    278850. phenotype.
    Orphaneti2138. 46,XX ovotesticular disorder of sex development.
    393. 46,XX testicular disorder of sex development.
    140. Campomelic dysplasia.
    PharmGKBiPA36041.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 509509Transcription factor SOX-9PRO_0000048739Add
    BLAST

    Proteomic databases

    MaxQBiP48436.
    PaxDbiP48436.
    PRIDEiP48436.

    PTM databases

    PhosphoSiteiP48436.

    Expressioni

    Gene expression databases

    BgeeiP48436.
    CleanExiHS_SOX9.
    GenevestigatoriP48436.

    Organism-specific databases

    HPAiCAB022456.
    HPA001758.

    Interactioni

    Protein-protein interaction databases

    BioGridi112545. 15 interactions.
    IntActiP48436. 1 interaction.
    STRINGi9606.ENSP00000245479.

    Structurei

    Secondary structure

    1
    509
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi111 – 12616
    Helixi132 – 14312
    Helixi148 – 16821

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1S9Mmodel-A101-177[»]
    1SX9model-A101-177[»]
    4EUWX-ray2.77A98-181[»]
    ProteinModelPortaliP48436.
    SMRiP48436. Positions 103-174.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi339 – 37840Gln/Pro-richAdd
    BLAST
    Compositional biasi342 – 3465Poly-Pro

    Sequence similaritiesi

    Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG295709.
    HOGENOMiHOG000108876.
    HOVERGENiHBG002061.
    InParanoidiP48436.
    KOiK09270.
    OMAiIAYSPFS.
    OrthoDBiEOG7Q2N5K.
    PhylomeDBiP48436.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    IPR029548. SOX-9.
    IPR022151. Sox_N.
    [Graphical view]
    PANTHERiPTHR10270:SF212. PTHR10270:SF212. 1 hit.
    PfamiPF00505. HMG_box. 1 hit.
    PF12444. Sox_N. 1 hit.
    [Graphical view]
    SMARTiSM00398. HMG. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    PROSITEiPS50118. HMG_BOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P48436-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE    50
    NTFPKGEPDL KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK 100
    NKPHVKRPMN AFMVWAQAAR RKLADQYPHL HNAELSKTLG KLWRLLNESE 150
    KRPFVEEAER LRVQHKKDHP DYKYQPRRRK SVKNGQAEAE EATEQTHISP 200
    NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT PKTDVQPGKA 250
    DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP 300
    NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP 350
    QAPPAPQAPP QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE 400
    QLSPSHYSEQ QQHSPQQIAY SPFNLPHYSP SYPPITRSQY DYTDHQNSSS 450
    YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI ADTSGVPSIP QTHSPQHWEQ 500
    PVYTQLTRP 509
    Length:509
    Mass (Da):56,137
    Last modified:February 1, 1996 - v1
    Checksum:i9289CFBB8D6631A2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761A → 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 Publication
    VAR_063642
    Natural varianti108 – 1081P → L in CMD1. 1 Publication
    VAR_003735
    Natural varianti112 – 1121F → L in CMD1; loss of DNA binding. 2 Publications
    VAR_003736
    Natural varianti112 – 1121F → S in CMD1. 1 Publication
    VAR_003737
    Natural varianti113 – 1131M → T in CMD1. 1 Publication
    VAR_063643
    Natural varianti113 – 1131M → V in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication
    VAR_063644
    Natural varianti119 – 1191A → V in CMD1; almost no loss of DNA binding. 2 Publications
    VAR_003738
    Natural varianti143 – 1431W → R in CMD1. 1 Publication
    VAR_003739
    Natural varianti152 – 1521R → P in CMD1. 1 Publication
    VAR_003740
    Natural varianti154 – 1541F → L in CMD1; 5% of wild-type DNA binding activity; transcriptional activation is only reduced to 26% of wild-type activity. 1 Publication
    VAR_008529
    Natural varianti158 – 1581A → 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 Publication
    VAR_008530
    Natural varianti165 – 1651H → Q in CMD1; residual DNA binding and transactivation of regulated genes. 1 Publication
    VAR_063645
    Natural varianti165 – 1651H → Y in CMD1; loss of DNA binding. 2 Publications
    Corresponds to variant rs28940282 [ dbSNP | Ensembl ].
    VAR_008531
    Natural varianti170 – 1701P → L in CMD1. 1 Publication
    VAR_063646
    Natural varianti170 – 1701P → R in CMD1. 2 Publications
    VAR_003741
    Natural varianti173 – 1731K → E in CMD1. 1 Publication
    VAR_063647
    Natural varianti354 – 3563Missing in CMD1.
    VAR_003742

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    GeneIDi6662.
    KEGGihsa:6662.
    UCSCiuc002jiw.3. human.

    Polymorphism databases

    DMDMi1351096.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGenei Hs.647409.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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 [» ]
    ProteinModelPortali P48436.
    SMRi P48436. Positions 103-174.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112545. 15 interactions.
    IntActi P48436. 1 interaction.
    STRINGi 9606.ENSP00000245479.

    PTM databases

    PhosphoSitei P48436.

    Polymorphism databases

    DMDMi 1351096.

    Proteomic databases

    MaxQBi P48436.
    PaxDbi P48436.
    PRIDEi P48436.

    Protocols and materials databases

    DNASUi 6662.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000245479 ; ENSP00000245479 ; ENSG00000125398 .
    GeneIDi 6662.
    KEGGi hsa:6662.
    UCSCi uc002jiw.3. human.

    Organism-specific databases

    CTDi 6662.
    GeneCardsi GC17P070117.
    GeneReviewsi SOX9.
    HGNCi HGNC:11204. SOX9.
    HPAi CAB022456.
    HPA001758.
    MIMi 114290. phenotype.
    278850. phenotype.
    608160. gene.
    neXtProti NX_P48436.
    Orphaneti 2138. 46,XX ovotesticular disorder of sex development.
    393. 46,XX testicular disorder of sex development.
    140. Campomelic dysplasia.
    PharmGKBi PA36041.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG295709.
    HOGENOMi HOG000108876.
    HOVERGENi HBG002061.
    InParanoidi P48436.
    KOi K09270.
    OMAi IAYSPFS.
    OrthoDBi EOG7Q2N5K.
    PhylomeDBi P48436.

    Enzyme and pathway databases

    SignaLinki P48436.

    Miscellaneous databases

    GeneWikii SOX9.
    GenomeRNAii 6662.
    NextBioi 25973.
    PROi P48436.
    SOURCEi Search...

    Gene expression databases

    Bgeei P48436.
    CleanExi HS_SOX9.
    Genevestigatori P48436.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    IPR029548. SOX-9.
    IPR022151. Sox_N.
    [Graphical view ]
    PANTHERi PTHR10270:SF212. PTHR10270:SF212. 1 hit.
    Pfami PF00505. HMG_box. 1 hit.
    PF12444. Sox_N. 1 hit.
    [Graphical view ]
    SMARTi SM00398. HMG. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47095. SSF47095. 1 hit.
    PROSITEi PS50118. HMG_BOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye and PNS.
    6. "A SOX9 duplication and familial 46,XX developmental testicular disorder."
      Cox J.J., Willatt L., Homfray T., Woods C.G.
      N. Engl. J. Med. 364:91-93(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SRXX2.
    7. "Mutations in SRY and SOX9: testis-determining genes."
      Cameron F.J., Sinclair A.H.
      Hum. Mutat. 9:388-395(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    8. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1 LEU-112 AND VAL-119.
    9. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1 LEU-108; ARG-143; PRO-152 AND ARG-170.
    10. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT CMD1 SER-112.
    11. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1 LEU-112; VAL-119; TYR-165 AND ARG-170, 3D-STRUCTURE MODELING.
    12. Cited for: VARIANT CMD1 GLU-173.
    13. Cited for: VARIANT CMD1 TYR-165.
    14. "Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation."
      Preiss S., Argentaro A., Clayton A., John A., Jans D.A., Ogata T., Nagai T., Barroso I., Schafer A.J., Harley V.R.
      J. Biol. Chem. 276:27864-27872(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1 LEU-154 AND THR-158, CHARACTERIZATION OF VARIANTS CMD1 LEU-154 AND THR-158.
    15. "Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia."
      Sock E., Pagon R.A., Keymolen K., Lissens W., Wegner M., Scherer G.
      Hum. Mol. Genet. 12:1439-1447(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMD1 GLU-76.
    16. "Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia."
      Wada Y., Nishimura G., Nagai T., Sawai H., Yoshikata M., Miyagawa S., Hanita T., Sato S., Hasegawa T., Ishikawa S., Ogata T.
      Am. J. Med. Genet. A 149:2882-2885(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1 THR-113 AND LEU-170.
    17. "Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia."
      Staffler A., Hammel M., Wahlbuhl M., Bidlingmaier C., Flemmer A.W., Pagel P., Nicolai T., Wegner M., Holzinger A.
      Hum. Mutat. 31:E1436-E1444(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1 VAL-113 AND GLN-165, CHARACTERIZATION OF VARIANTS CMD1 VAL-113 AND GLN-165.

    Entry informationi

    Entry nameiSOX9_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 150 of the entry and version 1 of the sequence. [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
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3