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.[7][8] Tuj1 and Tead2 are suggested as direct target of Sox11.[9][10][11]
Clinical aspectedit
Lymphocyte staining for SOX11 immunohistochemistry indicates mantle cell lymphoma (cyclin D1 positive and negative) rather than other mature lymphoid neoplasms or normal lymphocytes.[12]
^ abcGRCh38: Ensembl release 89: ENSG00000176887 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000063632 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^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.
^ ab"Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".
^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. S2CID 42742018.
^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. PMC1698453. PMID 17182872.
^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. Bibcode:2010NatCo...1....9B. doi:10.1038/ncomms1008. PMC2892298. PMID 20596238.
^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. PMC2965191. PMID 20626275.
^Anna Dusenbery, M.D., Mark R. Wick, M.D. "Stains & CD markers - SOX11". Pathology Outlines.{{cite web}}: CS1 maint: multiple names: authors list (link) Topic Completed: 1 January 2018. Minor changes: 12 August 2021
^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. Bibcode:2014NatCo...5.4011T. doi:10.1038/ncomms5011. PMID 24886874.
^Vose, Julie M. (August 2017). "Mantle cell lymphoma: 2017 update on diagnosis, risk-stratification, and clinical management". American Journal of Hematology. 92 (8): 806–813. doi:10.1002/ajh.24797. ISSN 1096-8652. PMID 28699667.
Further readingedit
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. PMC309692. 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. S2CID 20719302.
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. S2CID 43826181.
External linksedit
Overview of all the structural information available in the PDB for UniProt: P35716 (Human Transcription factor SOX-11) at the PDBe-KB.
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.
sox11, transcription, factor, protein, that, humans, encoded, gene, identifiersaliases, mrd27, css9, transcription, factor, 11external, idsomim, 600898, 98359, homologene, 37733, genecards, gene, location, human, chromosome, human, band2p25, 2start5, end5, gen. Transcription factor SOX 11 is a protein that in humans is encoded by the SOX11 gene 5 6 7 SOX11IdentifiersAliasesSOX11 MRD27 SRY box 11 CSS9 SRY box transcription factor 11External IDsOMIM 600898 MGI 98359 HomoloGene 37733 GeneCards SOX11Gene location Human Chr Chromosome 2 human 1 Band2p25 2Start5 692 384 bp 1 End5 701 385 bp 1 Gene location Mouse Chr Chromosome 12 mouse 2 Band12 12 A2Start27 384 263 bp 2 End27 392 573 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceoptic nerveretinal pigment epitheliuminternal globus pallidusnucleus accumbenshypothalamusmedulla oblongataventral tegmental areaentorhinal cortexamniotic fluidTop expressed inmedial ganglionic eminenceabdominal wallmaxillary prominencefossatrigeminal ganglioncondylehandmedullary collecting ductexternal carotid arteryprimitive streakMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding transcription coactivator activity DNA binding transcription factor activity DNA binding transcription activator activity RNA polymerase II specific translation factor activity RNA binding transcription cis regulatory region binding cis regulatory region sequence specific DNA binding RNA polymerase II core promoter sequence specific DNA binding DNA binding transcription factor activity RNA polymerase II specific RNA polymerase II cis regulatory region sequence specific DNA bindingCellular componentcytoplasm nucleusBiological processembryonic 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 soft palate development ventricular septum morphogenesis cornea development in camera type eye outflow tract morphogenesis positive regulation of ossification negative regulation of transcription by RNA polymerase II negative regulation of cell death transcription by RNA polymerase II 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 population proliferation spinal cord development positive regulation of BMP signaling pathway glial cell proliferation skeletal muscle cell differentiation embryonic digestive tract morphogenesis oligodendrocyte development cell population proliferation positive regulation of stem cell proliferation neural tube formation positive regulation of hormone secretion positive regulation of transcription by RNA polymerase II closure of optic fissure protein biosynthesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez666420666EnsemblENSG00000176887ENSMUSG00000063632UniProtP35716Q7M6Y2RefSeq mRNA NM 003108NM 009234RefSeq protein NP 003099NP 033260Location UCSC Chr 2 5 69 5 7 MbChr 12 27 38 27 39 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical aspect 3 See also 4 References 5 Further reading 6 External linksFunction editThis 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 7 8 Tuj1 and Tead2 are suggested as direct target of Sox11 9 10 11 Clinical aspect editLymphocyte staining for SOX11 immunohistochemistry indicates mantle cell lymphoma cyclin D1 positive and negative rather than other mature lymphoid neoplasms or normal lymphocytes 12 Mutations in SOX11 are associated with Coffin Siris syndrome 13 and mantle cell lymphoma 14 See also editSOX genesReferences edit a b c GRCh38 Ensembl release 89 ENSG00000176887 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000063632 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Jay P Goze 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 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 a b Entrez Gene SOX11 SRY sex determining region Y box 11 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 S2CID 42742018 Bergsland M Werme M Malewicz M Perlmann T Muhr J Dec 2006 The establishment of neuronal properties is controlled by Sox4 and Sox11 Genes amp Development 20 24 3475 86 doi 10 1101 gad 403406 PMC 1698453 PMID 17182872 Bhattaram P Penzo Mendez 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 Bibcode 2010NatCo 1 9B doi 10 1038 ncomms1008 PMC 2892298 PMID 20596238 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 Anna Dusenbery M D Mark R Wick M D Stains amp CD markers SOX11 Pathology Outlines a href Template Cite web html title Template Cite web cite web a CS1 maint multiple names authors list link Topic Completed 1 January 2018 Minor changes 12 August 2021 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 Bibcode 2014NatCo 5 4011T doi 10 1038 ncomms5011 PMID 24886874 Vose Julie M August 2017 Mantle cell lymphoma 2017 update on diagnosis risk stratification and clinical management American Journal of Hematology 92 8 806 813 doi 10 1002 ajh 24797 ISSN 1096 8652 PMID 28699667 Further reading editWilson M Koopman P Aug 2002 Matching SOX partner proteins and co factors of the SOX family of transcriptional regulators Current Opinion in Genetics amp 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 Goze 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 S2CID 20719302 Ballif BA Villen J Beausoleil SA Schwartz D Gygi SP Nov 2004 Phosphoproteomic analysis of the developing mouse brain Molecular amp 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 S2CID 43826181 External links editOverview of all the structural information available in the PDB for UniProt P35716 Human Transcription factor SOX 11 at the PDBe KB nbsp This article on a gene on human chromosome 2 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SOX11 amp oldid 1113508428, wikipedia, wiki, book, books, library,
