Paired box protein: Difference between revisions
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<StructureSection load='6pax' size=' | <StructureSection load='6pax' size='350' side='right' caption='Structure of human PAX-6 pair box domain complex with DNA (PDB code [[6pax]]).' scene='59/595752/Cv/1' pspeed='8'> | ||
== Function == | == Function == | ||
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== Structural highlights == | == Structural highlights == | ||
*<scene name='59/595752/Cv/2'>PAX-6 N-terminal domain/DNA interactions</scene>. | *<scene name='59/595752/Cv/2'>PAX-6 N-terminal domain/DNA interactions</scene>. Water molecules are shown as red spheres. | ||
*<scene name='59/595752/Cv/3'>PAX-6 C-terminal domain/DNA interactions</scene> | *<scene name='59/595752/Cv/3'>PAX-6 C-terminal domain/DNA interactions</scene>. | ||
</StructureSection> | </StructureSection> | ||
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{{#tree:id=OrganizedByTopic|openlevels=0| | {{#tree:id=OrganizedByTopic|openlevels=0| | ||
*PAX- | *PAX-3 | ||
**[[ | **[[3cmy]] – hPAX homeodomain – NMR - human<br /> | ||
*PAX-5 | *PAX-5 | ||
| Line 33: | Line 32: | ||
**[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA <br /> | **[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA <br /> | ||
*PAX- | *PAX-6 | ||
**[[ | **[[6pax]] – hPAX + DNA<br /> | ||
**[[2cue]] – hPAX homeodomain – NMR<br /> | |||
*PAX-8 | *PAX-8 | ||
Latest revision as of 10:38, 17 September 2020
FunctionPaired box protein (PAX) are transcription factors which contain an N-terminal paired box domain and a paired-type homeodomain (60 amino acid helix-turn-helix). • PAX-6 contain two DNA-binding domains. It is a regulatory factor in eye and brain development. • PAX-5 is associated with B-cell differentiation.
DiseaseMutations in PAX-6 are associated with aniridia, limbal stem cell deficiency and Peter’s anomaly[3]. Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma[4]. Structural highlights
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3D Structures of paired box protein3D Structures of paired box protein
Updated on 17-September-2020
ReferencesReferences
- ↑ Thompson KW, Joshi P, Dymond JS, Gorrepati L, Smith HE, Krause MW, Eisenmann DM. The Paired-box protein PAX-3 regulates the choice between lateral and ventral epidermal cell fates in C. elegans. Dev Biol. 2016 Apr 15;412(2):191-207. doi: 10.1016/j.ydbio.2016.03.002. Epub 2016, Mar 4. PMID:26953187 doi:http://dx.doi.org/10.1016/j.ydbio.2016.03.002
- ↑ Ferretti E, Arturi F, Mattei T, Scipioni A, Tell G, Tosi E, Presta I, Morisi R, Lacroix L, Gulino A, Russo D, Damante G, Filetti S. Expression, regulation, and function of paired-box gene 8 in the human placenta and placental cancer cell lines. Endocrinology. 2005 Sep;146(9):4009-15. Epub 2005 Jun 16. PMID:15961562 doi:http://dx.doi.org/10.1210/en.2005-0084
- ↑ Li G, Xu F, Zhu J, Krawczyk M, Zhang Y, Yuan J, Patel S, Wang Y, Lin Y, Zhang M, Cai H, Chen D, Zhang M, Cao G, Yeh E, Lin D, Su Q, Li WW, Sen GL, Afshari N, Chen S, Maas RL, Fu XD, Zhang K, Liu Y, Ouyang H. Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease. J Biol Chem. 2015 Aug 14;290(33):20448-54. doi: 10.1074/jbc.M115.662940. Epub, 2015 Jun 4. PMID:26045558 doi:http://dx.doi.org/10.1074/jbc.M115.662940
- ↑ Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A. Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat. 1994;3(3):205-11. PMID:8019556 doi:http://dx.doi.org/10.1002/humu.1380030306