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==Pax6 paired domain protein==
==Pax6 paired domain protein==
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<StructureSection load='6PAX' size='340' side='right' caption='Caption for this structure' scene='75/752268/Full_protein_dna_hidden_orient/3'>
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<StructureSection load='6PAX' size='340' side='right' caption='The full PAX6 protein, DNA hidden to show all parts of the protein' scene='75/752268/Full_protein_dna_hidden_orient/3'>
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The PAX6 protein is a transcription factor necessary for the development of the eye, parts of the central nervous system,and crucial parts of the endocrine system including the pituitary gland, pineal gland, and pancreas <ref>PMID:27771509</ref>. PAX6 is encoded
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The PAX6 protein, expressed by the ''PAX6'' gene in humans, is a transcription factor necessary for the development of the eye, parts of the central nervous system,and crucial parts of the endocrine system including the pituitary gland, pineal gland, and pancreas <ref>PMID:27771509</ref>. It is a member of a family of highly conserved transcription factors found across a wide range of species including humans, mice, zebrafish, and many others<ref name="gene">PMID:7893124</ref>.
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<ref>PMID:7893124</ref>
 
<ref name="recdev">Parekh, M., Poli, B., Ferrari, S., Teofili, C., & Ponzin, D. (Eds.). (2015). ''Aniridia : Recent developments in scientific and clinical research'' [https://dx.doi.org/10.1007/978-3-319-19779-1 DOI: 10.1007/978-3-319-19779-1]</ref>
<ref name="recdev">Parekh, M., Poli, B., Ferrari, S., Teofili, C., & Ponzin, D. (Eds.). (2015). ''Aniridia : Recent developments in scientific and clinical research'' [https://dx.doi.org/10.1007/978-3-319-19779-1 DOI: 10.1007/978-3-319-19779-1]</ref>
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<ref>PMID:10346815</ref>
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<ref name="structure">PMID:10346815</ref>
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This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
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The <scene name='75/752268/Linker_bound_minor_groove/2'>extended linker region</scene> between the N-terminal and C-terminal domains of PAX6 consists of 15 residues and binds with the sugar phosphate backbone in the minor groove of the DNA being transcribed<ref name="structure" />.
</StructureSection>
</StructureSection>
== References ==
== References ==
<references/>
<references/>

Revision as of 09:18, 20 November 2019

Pax6 paired domain protein

The full PAX6 protein, DNA hidden to show all parts of the protein

Drag the structure with the mouse to rotate

References

  1. Wang X, Shan X, Gregory-Evans CY. A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):60-67. doi:, 10.1016/j.bbadis.2016.10.018. Epub 2016 Oct 20. PMID:27771509 doi:http://dx.doi.org/10.1016/j.bbadis.2016.10.018
  2. Stuart ET, Kioussi C, Gruss P. Mammalian Pax genes. Annu Rev Genet. 1994;28:219-36. doi: 10.1146/annurev.ge.28.120194.001251. PMID:7893124 doi:http://dx.doi.org/10.1146/annurev.ge.28.120194.001251
  3. Parekh, M., Poli, B., Ferrari, S., Teofili, C., & Ponzin, D. (Eds.). (2015). Aniridia : Recent developments in scientific and clinical research DOI: 10.1007/978-3-319-19779-1
  4. 4.0 4.1 Xu HE, Rould MA, Xu W, Epstein JA, Maas RL, Pabo CO. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding. Genes Dev. 1999 May 15;13(10):1263-75. PMID:10346815
  5. Vasilyeva TA, Voskresenskaya AA, Kasmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. PMID:28321846 doi:http://dx.doi.org/10.1111/cge.13019
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