SOX11

SOX11
Identifiers
Aliases	SOX11, MRD27, SRY-box 11, CSS9, SRY-box transcription factor 11
External IDs	OMIM: 600898 MGI: 98359 HomoloGene: 37733 GeneCards: SOX11
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	5,701,385 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	27,342,574 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• DNA binding; • GO:0001105 transcription coactivator activity; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • translation factor activity, RNA binding; • transcription regulatory region sequence-specific DNA binding; • GO:0001158 core promoter proximal region sequence-specific DNA binding; • RNA polymerase II core promoter sequence-specific DNA binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Cellular component	• cytoplasm; • cell 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; • cellular 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; • protein biosynthesis;
	Sources:Amigo / QuickGO
Orthologs
	6664
	20666
	ENSG00000176887
	ENSMUSG00000063632
	P35716
	Q7M6Y2
	NM_003108
	NM_009234
	NP_003099
	NP_033260
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.[5][6][7]

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.[7][8] Tuj1 and Tead2 are suggested as direct target of Sox11.[9][10][11]

Clinical aspect

Mutations in SOX11 are associated with Coffin-Siris syndrome[12] and mantle cell lymphoma.[13]

References

GRCh38: Ensembl release 89: ENSG00000176887 - Ensembl, May 2017
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, 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.
"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. PMC 1698453. 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. 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.
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.

External links

Overview of all the structural information available in the PDB for UniProt: P35716 (Human Transcription factor SOX-11) at the PDBe-KB.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000176887 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000063632 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8666406-5] 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.

[pmid12637543-6] 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.

[entrez-7] "Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".

[pmid19490090-8] 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.

[pmid17182872-9] 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.

[pmid20596238-10] 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. PMC 2892298. PMID 20596238.

[11] 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.

[12] 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.

[13] 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.

SOX11

Function

Clinical aspect

See also

References

Further reading

External links