SOX3: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Transcription factor SOX-3''' is a [[protein]] that in humans is encoded by the ''SOX3'' [[gene]].<ref name="pmid15800844">{{cite journal | vauthors = Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT | title = Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism | journal = American Journal of Human Genetics | volume = 76 | issue = 5 | pages = 833–49 | date = May 2005 | pmid = 15800844 | pmc = 1199372 | doi = 10.1086/430134 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SOX3 SRY (sex determining region Y)-box 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658| accessdate = }}</ref><ref name="pmid15800844" />
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a member of the [[SOX genes|SOX]] (SRY-related [[HMG-box]]) family of [[transcription factor]]s involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.<ref name="pmid14517545">{{cite journal | vauthors = Bylund M, Andersson E, Novitch BG, Muhr J | title = Vertebrate neurogenesis is counteracted by Sox1-3 activity | journal = Nature Neuroscience | volume = 6 | issue = 11 | pages = 1162–8 | date = Nov 2003 | pmid = 14517545 | doi = 10.1038/nn1131 }}</ref> Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism. <ref name="entrez"/> <ref name="barber">{{cite journal | vauthors = Barber, TM, Cheetham T, Ball SG | title = X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature | journal = Endocrine Abstracts | volume = 7 | issue = 1 | pages = 248 | year = 2004 | month = | pmid = | doi = | url = http://www.endocrine-abstracts.org/ea/0007/ea0007p248.htm }}</ref>
{{GNF_Protein_box
| image = PBB_Protein_SOX3_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1gt0.
| PDB = {{PDB2|1gt0}}, {{PDB2|1o4x}}
| Name = SRY (sex determining region Y)-box 3
| HGNCid = 11199
| Symbol = SOX3
| AltSymbols =; MRGH; SOXB
| OMIM = 313430
| ECnumber =
| Homologene = 4118
| MGIid = 98365
| GeneAtlas_image1 = PBB_GE_SOX3_214633_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}}  
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007417 |text = central nervous system development}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030900 |text = forebrain development}} {{GNF_GO|id=GO:0048515 |text = spermatid differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6658
    | Hs_Ensembl = ENSG00000134595
    | Hs_RefseqProtein = NP_005625
    | Hs_RefseqmRNA = NM_005634
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 139412818
    | Hs_GenLoc_end = 139415334
    | Hs_Uniprot = P41225
    | Mm_EntrezGene = 20675
    | Mm_Ensembl = ENSMUSG00000045179
    | Mm_RefseqmRNA = XM_988206
    | Mm_RefseqProtein = XP_993300
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 57152743
    | Mm_GenLoc_end = 57153870
    | Mm_Uniprot = Q4VBD8
  }}
}}
'''SRY (sex determining region Y)-box 3''', also known as '''SOX3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SOX3 SRY (sex determining region Y)-box 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== See also ==
{{PBB_Summary
* [[SOX gene family]]
| section_title =  
| summary_text = This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors 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. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency.<ref name="entrez">{{cite web | title = Entrez Gene: SOX3 SRY (sex determining region Y)-box 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658| accessdate = }}</ref>
}}


==See also==
== References ==
* [[SOX genes]]
{{reflist}}


==References==
== Further reading ==
{{reflist|2}}
 
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Kamachi Y, Uchikawa M, Kondoh H | title = Pairing SOX off: with partners in the regulation of embryonic development | journal = Trends in Genetics | volume = 16 | issue = 4 | pages = 182–7 | date = Apr 2000 | pmid = 10729834 | doi = 10.1016/S0168-9525(99)01955-1 }}
| citations =
* {{cite journal | vauthors = Bowles J, Schepers G, Koopman P | title = Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators | journal = Developmental Biology | volume = 227 | issue = 2 | pages = 239–55 | date = Nov 2000 | pmid = 11071752 | doi = 10.1006/dbio.2000.9883 }}
*{{cite journal | author=Kamachi Y, Uchikawa M, Kondoh H |title=Pairing SOX off: with partners in the regulation of embryonic development. |journal=Trends Genet. |volume=16 |issue= 4 |pages= 182-7 |year= 2000 |pmid= 10729834 |doi= }}
* {{cite journal | vauthors = Schepers GE, Teasdale RD, Koopman P | title = Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families | journal = Developmental Cell | volume = 3 | issue = 2 | pages = 167–70 | date = Aug 2002 | pmid = 12194848 | doi = 10.1016/S1534-5807(02)00223-X }}
*{{cite journal | author=Bowles J, Schepers G, Koopman P |title=Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. |journal=Dev. Biol. |volume=227 |issue= 2 |pages= 239-55 |year= 2001 |pmid= 11071752 |doi= 10.1006/dbio.2000.9883 }}
* {{cite journal | vauthors = Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A | title = A conserved family of genes related to the testis determining gene, SRY | journal = Nucleic Acids Research | volume = 20 | issue = 11 | pages = 2887 | date = Jun 1992 | pmid = 1614875 | pmc = 336939 | doi = 10.1093/nar/20.11.2887 }}
*{{cite journal | author=Schepers GE, Teasdale RD, Koopman P |title=Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. |journal=Dev. Cell |volume=3 |issue= 2 |pages= 167-70 |year= 2002 |pmid= 12194848 |doi= }}
* {{cite journal | vauthors = Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN | title = SOX3 is an X-linked gene related to SRY | journal = Human Molecular Genetics | volume = 2 | issue = 12 | pages = 2013–8 | date = Dec 1993 | pmid = 8111369 | doi = 10.1093/hmg/2.12.2013 }}
*{{cite journal | author=Denny P, Swift S, Brand N, ''et al.'' |title=A conserved family of genes related to the testis determining gene, SRY. |journal=Nucleic Acids Res. |volume=20 |issue= 11 |pages= 2887 |year= 1992 |pmid= 1614875 |doi= }}
* {{cite journal | vauthors = Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R | title = A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2 | journal = Development | volume = 122 | issue = 2 | pages = 509–20 | date = Feb 1996 | pmid = 8625802 | doi =  }}
*{{cite journal | author=Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN |title=SOX3 is an X-linked gene related to SRY. |journal=Hum. Mol. Genet. |volume=2 |issue= 12 |pages= 2013-8 |year= 1994 |pmid= 8111369 |doi= }}
* {{cite journal | vauthors = Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S | title = Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency | journal = American Journal of Human Genetics | volume = 71 | issue = 6 | pages = 1450–5 | date = Dec 2002 | pmid = 12428212 | pmc = 420004 | doi = 10.1086/344661 }}
*{{cite journal | author=Collignon J, Sockanathan S, Hacker A, ''et al.'' |title=A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. |journal=Development |volume=122 |issue= 2 |pages= 509-20 |year= 1996 |pmid= 8625802 |doi=  }}
* {{cite journal | vauthors = Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K | title = Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene | journal = Developmental Biology | volume = 257 | issue = 1 | pages = 1–13 | date = May 2003 | pmid = 12710953 | doi = 10.1016/S0012-1606(03)00058-7 }}
*{{cite journal | author=Laumonnier F, Ronce N, Hamel BC, ''et al.'' |title=Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1450-5 |year= 2003 |pmid= 12428212 |doi=  }}
* {{cite journal | vauthors = Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A, Jameson JL | title = Sox3 is required for gonadal function, but not sex determination, in males and females | journal = Molecular and Cellular Biology | volume = 23 | issue = 22 | pages = 8084–91 | date = Nov 2003 | pmid = 14585968 | pmc = 262333 | doi = 10.1128/MCB.23.22.8084-8091.2003 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Dattani MT | title = Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene | journal = Journal of Pediatric Endocrinology & Metabolism | volume = 16 | issue = 9 | pages = 1207–9 | date = Dec 2003 | pmid = 14714741 | doi = 10.1515/jpem.2003.16.9.1207 }}
*{{cite journal | author=Aota S, Nakajima N, Sakamoto R, ''et al.'' |title=Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene. |journal=Dev. Biol. |volume=257 |issue= 1 |pages= 1-13 |year= 2003 |pmid= 12710953 |doi= }}
* {{cite journal | vauthors = Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL | title = X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 89 | issue = 8 | pages = 4146–8 | date = Aug 2004 | pmid = 15292361 | doi = 10.1210/jc.2004-0191 }}
*{{cite journal | author=Weiss J, Meeks JJ, Hurley L, ''et al.'' |title=Sox3 is required for gonadal function, but not sex determination, in males and females. |journal=Mol. Cell. Biol. |volume=23 |issue= 22 |pages= 8084-91 |year= 2003 |pmid= 14585968 |doi= }}
* {{cite journal | vauthors = Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ | title = Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 | journal = Journal of Medical Genetics | volume = 41 | issue = 9 | pages = 669–78 | date = Sep 2004 | pmid = 15342697 | pmc = 1735898 | doi = 10.1136/jmg.2003.016949 }}
*{{cite journal | author=Dattani MT |title=Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1207-9 |year= 2004 |pmid= 14714741 |doi= }}
* {{cite journal | vauthors = Savare J, Bonneaud N, Girard F | title = SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors | journal = Molecular Biology of the Cell | volume = 16 | issue = 6 | pages = 2660–9 | date = Jun 2005 | pmid = 15788563 | pmc = 1142414 | doi = 10.1091/mbc.E04-12-1062 }}
*{{cite journal | author=Raverot G, Lejeune H, Kotlar T, ''et al.'' |title=X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 8 |pages= 4146-8 |year= 2004 |pmid= 15292361 |doi= 10.1210/jc.2004-0191 }}
*{{cite journal | author=Solomon NM, Ross SA, Morgan T, ''et al.'' |title=Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. |journal=J. Med. Genet. |volume=41 |issue= 9 |pages= 669-78 |year= 2005 |pmid= 15342697 |doi= 10.1136/jmg.2003.016949 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal  | author=Savare J, Bonneaud N, Girard F |title=SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors. |journal=Mol. Biol. Cell |volume=16 |issue= 6 |pages= 2660-9 |year= 2005 |pmid= 15788563 |doi= 10.1091/mbc.E04-12-1062 }}
*{{cite journal  | author=Woods KS, Cundall M, Turton J, ''et al.'' |title=Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. |journal=Am. J. Hum. Genet. |volume=76 |issue= 5 |pages= 833-49 |year= 2005 |pmid= 15800844 |doi= 10.1086/430134 }}
}}
{{refend}}
{{refend}}


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* {{MeshName|SOX3+protein,+human}}
* {{MeshName|SOX3+protein,+human}}


 
{{gene-X-stub}}
{{protein-stub}}
{{NLM content}}
{{NLM content}}
{{Transcription factors}}
{{Transcription factors|g4}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 06:51, 11 September 2017

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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[1][2][1]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.[3] Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism. [2] [4]

See also

References

  1. ↑ 1.0 1.1 Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT (May 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics. 76 (5): 833–49. doi:10.1086/430134. PMC 1199372. PMID 15800844.
  2. ↑ 2.0 2.1 "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
  3. ↑ Bylund M, Andersson E, Novitch BG, Muhr J (Nov 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience. 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545.
  4. ↑ Barber, TM, Cheetham T, Ball SG (2004). "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts. 7 (1): 248.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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