SOX11

SOX11
Identifiers
Aliases	SOX11, MRD27, SRY-box 11
External IDs	MGI: 98359 HomoloGene: 37733 GeneCards: SOX11
Gene ontology Molecular function • DNA binding • RNA polymerase II transcription coactivator activity • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • translation factor activity, RNA binding • transcription regulatory region sequence-specific DNA binding • enhancer sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding Cellular component • cytoplasm • nucleus Biological process • embryonic skeletal system morphogenesis • skeletal system development • noradrenergic neuron differentiation • positive regulation of lens epithelial cell proliferation • cell differentiation • cardiac ventricle formation • glial cell development • regulation of transcription, DNA-templated • limb bud formation • lung morphogenesis • sympathetic nervous system development • neural crest cell development • kidney development • negative regulation of glial cell proliferation • signal transduction involved in cell cycle checkpoint • soft palate development • ventricular septum morphogenesis • cornea development in camera-type eye • outflow tract morphogenesis • positive regulation of ossification • negative regulation of transcription from RNA polymerase II promoter • negative regulation of cell death • transcription from RNA polymerase II promoter • eyelid development in camera-type eye • negative regulation of gene expression • negative regulation of lymphocyte proliferation • somite development • transcription, DNA-templated • neuroepithelial cell differentiation • regulation of transforming growth factor beta receptor signaling pathway • nervous system development • positive regulation of transcription, DNA-templated • positive regulation of hippo signaling • positive regulation of neurogenesis • multicellular organism development • positive regulation of gene expression • positive regulation of osteoblast differentiation • lens morphogenesis in camera-type eye • negative regulation of transcription regulatory region DNA binding • hard palate development • positive regulation of neuron differentiation • neuron differentiation • positive regulation of cell proliferation • spinal cord development • positive regulation of BMP signaling pathway • glial cell proliferation • skeletal muscle cell differentiation • embryonic digestive tract morphogenesis • oligodendrocyte development • cell proliferation • positive regulation of stem cell proliferation • neural tube formation • positive regulation of hormone secretion • positive regulation of transcription from RNA polymerase II promoter • closure of optic fissure • translation 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_003099.1	NP_033260.4
Location (UCSC)	Chr 2: 5.69 – 5.7 Mb	Chr 12: 27.33 – 27.34 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

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Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.^[3][4][5]

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.^[5][6] Tuj1 and Tead2 are suggested as direct target of Sox11.^[7][8][9]

Clinical aspect

Mutations in SOX11 are associated to Coffin-Siris syndrome .^[10]

See also

• SOX genes

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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.
5. "Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.