Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P48436

- SOX9_HUMAN

UniProt

P48436 - SOX9_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Transcription factor SOX-9

Gene

SOX9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. pre-mRNA intronic binding Source: Ensembl
  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. cytoskeleton organization Source: Ensembl
  18. endocardial cushion morphogenesis Source: UniProtKB
  19. endocrine pancreas development Source: Ensembl
  20. epidermal growth factor receptor signaling pathway Source: UniProtKB
  21. epithelial cell proliferation involved in prostatic bud elongation Source: UniProtKB
  22. epithelial to mesenchymal transition Source: UniProtKB
  23. epithelial tube branching involved in lung morphogenesis Source: Ensembl
  24. ERK1 and ERK2 cascade Source: UniProtKB
  25. extracellular matrix organization Source: Ensembl
  26. hair follicle development Source: UniProtKB
  27. heart valve development Source: UniProtKB
  28. heart valve formation Source: Ensembl
  29. heart valve morphogenesis Source: UniProtKB
  30. intestinal epithelial structure maintenance Source: UniProtKB
  31. intrahepatic bile duct development Source: Ensembl
  32. limb bud formation Source: Ensembl
  33. lung epithelial cell differentiation Source: Ensembl
  34. male germ-line sex determination Source: UniProtKB
  35. male gonad development Source: UniProtKB
  36. mammary gland development Source: Ensembl
  37. metanephric nephron tubule formation Source: UniProtKB
  38. morphogenesis of a branching epithelium Source: UniProtKB
  39. negative regulation of apoptotic process Source: UniProtKB
  40. negative regulation of biomineral tissue development Source: UniProtKB
  41. negative regulation of bone mineralization Source: Ensembl
  42. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  43. negative regulation of chondrocyte differentiation Source: UniProtKB
  44. negative regulation of epithelial cell differentiation Source: Ensembl
  45. negative regulation of epithelial cell proliferation Source: UniProtKB
  46. negative regulation of immune system process Source: UniProtKB
  47. negative regulation of mesenchymal cell apoptotic process Source: Ensembl
  48. negative regulation of myoblast differentiation Source: UniProtKB
  49. negative regulation of ossification Source: UniProtKB
  50. negative regulation of photoreceptor cell differentiation Source: UniProtKB
  51. negative regulation of transcription, DNA-templated Source: UniProtKB
  52. neural crest cell development Source: Ensembl
  53. notochord development Source: Ensembl
  54. nucleosome assembly Source: UniProtKB
  55. oligodendrocyte differentiation Source: Ensembl
  56. ossification Source: Ensembl
  57. otic vesicle formation Source: UniProtKB
  58. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
  59. positive regulation of cartilage development Source: UniProtKB
  60. positive regulation of cell proliferation Source: UniProtKB
  61. positive regulation of cell proliferation involved in heart morphogenesis Source: Ensembl
  62. positive regulation of chondrocyte differentiation Source: UniProtKB
  63. positive regulation of epithelial cell differentiation Source: UniProtKB
  64. positive regulation of epithelial cell migration Source: UniProtKB
  65. positive regulation of epithelial cell proliferation Source: UniProtKB
  66. positive regulation of extracellular matrix assembly Source: Ensembl
  67. positive regulation of kidney development Source: UniProtKB
  68. positive regulation of male gonad development Source: UniProtKB
  69. positive regulation of mesenchymal cell proliferation Source: UniProtKB
  70. positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
  71. positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
  72. positive regulation of protein catabolic process Source: Ensembl
  73. positive regulation of protein phosphorylation Source: UniProtKB
  74. positive regulation of transcription, DNA-templated Source: UniProtKB
  75. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  76. prostate gland development Source: UniProtKB
  77. protein complex assembly Source: UniProtKB
  78. protein kinase B signaling Source: Ensembl
  79. regulation of apoptotic process Source: UniProtKB
  80. regulation of branching involved in lung morphogenesis Source: Ensembl
  81. regulation of cell adhesion Source: Ensembl
  82. regulation of cell cycle process Source: UniProtKB
  83. regulation of cell proliferation Source: UniProtKB
  84. regulation of cell proliferation involved in tissue homeostasis Source: UniProtKB
  85. regulation of epithelial cell proliferation involved in lung morphogenesis Source: Ensembl
  86. renal vesicle induction Source: UniProtKB
  87. retina development in camera-type eye Source: UniProtKB
  88. retinal rod cell differentiation Source: UniProtKB
  89. Sertoli cell development Source: Ensembl
  90. Sertoli cell differentiation Source: UniProtKB
  91. signal transduction Source: UniProtKB
  92. skeletal system development Source: UniProtKB
  93. somatic stem cell maintenance Source: UniProtKB
  94. spermatogenesis Source: UniProtKB
  95. tissue homeostasis Source: UniProtKB
  96. transcription from RNA polymerase II promoter Source: GOC
  97. ureter morphogenesis Source: Ensembl
  98. ureter smooth muscle cell differentiation Source: Ensembl
  99. ureter urothelium development Source: Ensembl
Complete GO annotation...

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. nuclear transcription factor complex Source: Ensembl
  2. nucleus Source: UniProtKB
  3. protein complex Source: UniProtKB
Complete GO annotation...

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.
718. Isolated Pierre Robin syndrome.
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.
ExpressionAtlasiP48436. baseline and differential.
GenevestigatoriP48436.

Organism-specific databases

HPAiCAB022456.
HPA001758.

Interactioni

Protein-protein interaction databases

BioGridi112545. 16 interactions.
IntActiP48436. 1 interaction.
STRINGi9606.ENSP00000245479.

Structurei

Secondary structure

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

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.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000108876.
HOVERGENiHBG002061.
InParanoidiP48436.
KOiK18435.
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 [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)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. 16 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.
718. Isolated Pierre Robin syndrome.
PharmGKBi PA36041.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG295709.
GeneTreei ENSGT00760000118988.
HOGENOMi HOG000108876.
HOVERGENi HBG002061.
InParanoidi P48436.
KOi K18435.
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.
ExpressionAtlasi P48436. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 151 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