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 == | ||
'''Paired box protein''' (PAX) are transcription factors which contain paired box domain and a paired-type homeodomain (60 amino acid helix-turn-helix). | '''Paired 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 | • '''PAX-6''' contain two DNA-binding domains. It is a regulatory factor in eye and brain development. <br /> | ||
• '''PAX-5''' is associated with B-cell differentiation.<br /> | • '''PAX-5''' is associated with B-cell differentiation.<br /> | ||
• '''PAX-3''' | • '''PAX-3''' regulates cell fate in ''C. elegans''<ref>PMID:26953187</ref><br /> | ||
• '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes.<br /> | • '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes<ref>PMID:15961562</ref>.<br /> | ||
== Disease == | == Disease == | ||
Mutations in PAX-6 are associated with aniridia, limbal stem cell deficiency and Peter’s anomaly<ref>PMID:26045558</ref>. Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma<ref>PMID:8019556</ref>. | |||
== Structural highlights == | == Structural highlights == | ||
*<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>. | |||
</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 | ||
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**[[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 | ||