SOX11

SRY (sex determining region Y)-box 11
Identifiers
Symbols	SOX11 ; MRD27
External IDs	OMIM: 600898 MGI: 98359 HomoloGene: 37733 GeneCards: SOX11 Gene
Gene ontology Molecular function • transcription regulatory region sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • RNA polymerase II transcription coactivator activity • enhancer sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • translation factor activity, RNA binding Cellular component • nucleus • cytoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • skeletal system development • kidney development • neural tube formation • lens morphogenesis in camera-type eye • outflow tract morphogenesis • cardiac ventricle formation • noradrenergic neuron differentiation • transcription from RNA polymerase II promoter • translation • positive regulation of cell proliferation • positive regulation of gene expression • negative regulation of gene expression • oligodendrocyte development • glial cell proliferation • neural crest cell development • regulation of transforming growth factor beta receptor signaling pathway • spinal cord development • glial cell development • neuron differentiation • positive regulation of BMP signaling pathway • positive regulation of hippo signaling • skeletal muscle cell differentiation • positive regulation of neuron differentiation • positive regulation of osteoblast differentiation • positive regulation of ossification • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • positive regulation of hormone secretion • sympathetic nervous system development • embryonic digestive tract morphogenesis • embryonic skeletal system morphogenesis • negative regulation of lymphocyte proliferation • positive regulation of neurogenesis • hard palate development • soft palate development • limb bud formation • negative regulation of glial cell proliferation • ventricular septum morphogenesis • lung morphogenesis • negative regulation of cell death • neuroepithelial cell differentiation • eyelid development in camera-type eye • somite development • cornea development in camera-type eye • closure of optic fissure • signal transduction involved in cell cycle checkpoint • positive regulation of stem cell proliferation • negative regulation of transcription regulatory region DNA binding • positive regulation of lens epithelial cell proliferation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6664	20666
Ensembl	ENSG00000176887	ENSMUSG00000063632
UniProt	P35716	Q7M6Y2
RefSeq (mRNA)	NM_003108	NM_009234
RefSeq (protein)	NP_003099	NP_033260
Location (UCSC)	Chr 2: 5.69 – 5.7 Mb	Chr 12: 27.33 – 27.34 Mb
PubMed search

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.^[1][2][3]

Function

This intronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis.^[3][4] Tuj1 and Tead2 are suggested as direct target of Sox11.^[5][6][7]

Clinical aspect

Mutations in SOX11 are associated to Coffin-Siris syndrome .^[8]

See also

• SOX genes

References

1. Jay P, Gozé C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, Berta P (Sep 1995). "The human SOX11 gene: cloning, chromosomal assignment and tissue expression". Genomics 29 (2): 541–5. doi:10.1006/geno.1995.9970. PMID 8666406.
2. Wiebe MS, Nowling TK, Rizzino A (May 2003). "Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity". The Journal of Biological Chemistry 278 (20): 17901–11. doi:10.1074/jbc.M212211200. PMID 12637543.
3. "Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".
4. Haslinger A, Schwarz TJ, Covic M, Lie DC (Jun 2009). "Expression of Sox11 in adult neurogenic niches suggests a stage-specific role in adult neurogenesis". The European Journal of Neuroscience 29 (11): 2103–14. doi:10.1111/j.1460-9568.2009.06768.x. PMID 19490090.
5. Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J (Dec 2006). "The establishment of neuronal properties is controlled by Sox4 and Sox11". Genes & Development 20 (24): 3475–86. doi:10.1101/gad.403406. PMC 1698453. PMID 17182872.
6. Bhattaram P, Penzo-Méndez A, Sock E, Colmenares C, Kaneko KJ, Vassilev A, Depamphilis ML, Wegner M, Lefebvre V (Apr 2010). "Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors". Nature Communications 1 (1): 9. doi:10.1038/ncomms1008. PMC 2892298. PMID 20596238.
7. Larson BL, Ylostalo J, Lee RH, Gregory C, Prockop DJ (Nov 2010). "Sox11 is expressed in early progenitor human multipotent stromal cells and decreases with extensive expansion of the cells". Tissue Engineering. Part A 16 (11): 3385–94. doi:10.1089/ten.tea.2010.0085. PMC 2965191. PMID 20626275.
8. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications 5: 4011. doi:10.1038/ncomms5011. PMID 24886874.

Further reading

• Wilson M, Koopman P (Aug 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
• Schepers GE, Teasdale RD, Koopman P (Aug 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
• Gozé C, Poulat F, Berta P (Jun 1993). "Partial cloning of SOX-11 and SOX-12, two new human SOX genes". Nucleic Acids Research 21 (12): 2943. doi:10.1093/nar/21.12.2943. PMC 309692. PMID 8332506.
• Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M (Jun 1998). "Cooperative function of POU proteins and SOX proteins in glial cells". The Journal of Biological Chemistry 273 (26): 16050–7. doi:10.1074/jbc.273.26.16050. PMID 9632656.
• Azuma T, Ao S, Saito Y, Yano K, Seki N, Wakao H, Masuho Y, Muramatsu M (Oct 1999). "Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region". DNA Research 6 (5): 357–60. doi:10.1093/dnares/6.5.357. PMID 10574465.
• Lee CJ, Appleby VJ, Orme AT, Chan WI, Scotting PJ (May 2002). "Differential expression of SOX4 and SOX11 in medulloblastoma". Journal of Neuro-Oncology 57 (3): 201–14. doi:10.1023/A:1015773818302. PMID 12125983.
• Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
• Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM (Jul 2005). "Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells". Development 132 (13): 3045–54. doi:10.1242/dev.01890. PMID 15944188.
• Thevenet L, Albrecht KH, Malki S, Berta P, Boizet-Bonhoure B, Poulat F (Nov 2005). "NHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY". The Journal of Biological Chemistry 280 (46): 38625–30. doi:10.1074/jbc.M504127200. PMID 16166090.
• DesGroseilliers M, Fortin F, Lemyre E, Lemieux N (2006). "Complex mosaicism in sex reversed SRY+ male twins". Cytogenetic and Genome Research 112 (1-2): 176–9. doi:10.1159/000087532. PMID 16276109.