AC T01853
XX
ID T01853
XX
DT 18.06.1996 (created); dbo.
DT 11.01.2016 (updated); mkl.
CO Copyright (C), QIAGEN.
XX
FA Sox-9
XX
SY SOX-9; SOX9; SRY-related HMG-box gene 9; SRY-related HMG-box protein 9.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
XX
GE G003973 SOX9; HGNC: SOX9.
XX
CL C0015; HMG; 4.1.1.5.2.
XX
SF all identified SOX proteins contain HMG domains which facilitate sequence-specific DNA-binding and share more than 50% identity with the HMG domain of SRY (human testis-determining factor);
SF most of the SOX proteins share a core DNA-binding sequence AACAAT (which is called SCBE for SOX core-binding element);
SF they achieve DNA sequence specificity through preferences for flanking nucleotides [3];
XX
CP highest levels in adult testis, lower in fetal brain, liver, kidney [2].
CN adult spleen, thymus [2].
XX
FF may play a key role in bone formation and testis development [1];
FF gene found close to the breakpoint of t(2;
FF 17)(q35;
FF q23-24) chromosomal translocation causing campomelic dysplasia, a skeletal malformation syndrome [1] [2];
XX
IN T29717 SIRT1; human, Homo sapiens.
IN T24830 Smad2; Mammalia.
IN T09538 Smad3; Mammalia.
XX
MX M04004 V$SOX9_02.
MX M08838 V$SOX9_09.
MX M00410 V$SOX9_B1.
MX M01284 V$SOX9_Q4.
MX M07269 V$SOX9_Q5.
MX M08899 V$SOX_Q4.
MX M01014 V$SOX_Q6.
XX
BS R73975.
BS R57814.
BS R60520.
BS R60522.
BS R60523.
BS R60524.
BS R60526.
BS R71582.
BS R61000.
BS R60998.
BS R60999.
BS R60953.
BS R60996.
BS R67975.
BS R61710.
BS R61711.
BS R32217.
XX
DR TRANSPATH: MO000018993.
DR TRANSCOMPEL: C00219.
DR UniProtKB: P48436;
XX
RN [1]; RE0004360.
RX PUBMED: 7990924.
RA Foster J. W., Dominguez-Steglich M. A., Guioli S., Kwok C., Weller P. A., Stevanovic M., Weissenbach J., Mansour S., Young I. D., Goodfellow P. N., Brook J. D., Schafer A. J.
RT Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
RL Nature 372:525-530 (1994).
RN [2]; RE0004381.
RX PUBMED: 8001137.
RA 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.
RT Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
RL Cell 79:1111-1120 (1994).
RN [3]; RE0014522.
RX PUBMED: 9973626.
RA Mertin S., McDowall S. G., Harley V. R.
RT The DNA-binding specificity of SOX9 and other SOX proteins
RL Nucleic Acids Res. 27:1359-1364 (1999).
RN [4]; RE0022695.
RX PUBMED: 10805756.
RA Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
RT Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer.
RL Mol. Cell. Biol. 20:4149-4158 (2000).
RN [5]; RE0022698.
RX PUBMED: 9121483.
RA Lefebvre V., Huang W., Harley V. R., Goodfellow P. N., de Crombrugghe B.
RT SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene.
RL Mol. Cell. Biol. 17:2336-2346 (1997).
RN [6]; RE0047371.
RX PUBMED: 15623506.
RA Furumatsu T., Tsuda M., Taniguchi N., Tajima Y., Asahara H.
RT Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment.
RL J. Biol. Chem. 280:8343-8350 (2005).
XX
//