Paired box protein: Difference between revisions

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== 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 2 DNA-binding domains. It is a regulatory factor in eye and brain development. ~~Mutations in PAX-6 are associated with aniridia and Peter’s anomaly.~~

• '''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.

• '''PAX-3''' ~~mutations are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma~~.

• '''PAX-3''' regulates cell fate in ''C. elegans''<ref>PMID:26953187</ref>

• '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes.

• '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes<ref>PMID:15961562</ref>.

== 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>.

~~== Relevance ==~~

== 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>

== 3D Structures of paired box protein ==

Updated on {{REVISIONDAY2}}-{{MONTHNAME|{{REVISIONMONTH}}}}-{{REVISIONYEAR}}

{{#tree:id=OrganizedByTopic|openlevels=0|

~~===~~PAX-~~6===~~

*PAX-3

~~[[6pax]] – hPAX + DNA - human ~~

~~[[2cue]] – hPAX homeodomain – NMR ~~

~~===PAX~~-~~5===~~

**[[3cmy]] – hPAX homeodomain – NMR - human

~~[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB~~-~~1 promoter DNA ~~

*PAX-5

~~===PAX~~-~~3===~~

**[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA

~~[[3cmy]] – hPAX homeodomain – NMR ~~

*PAX-6

~~===PAX-8===~~

**[[6pax]] – hPAX + DNA

**[[2cue]] – hPAX homeodomain – NMR

~~[[2k27]] – hPAX paired domain~~ - ~~NMR ~~

*PAX-8

**[[2k27]] – hPAX paired domain - NMR

}}

== References ==

Paired box protein: Difference between revisions

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+<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'>
-<StructureSection load='6pax' size='340' side='right' caption='Structure of human PAX-6 complex with DNA (PDB code [[6pax]]).' scene=''>
 == 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 2 DNA-binding domains.  It is a regulatory factor in eye and brain development.  Mutations in PAX-6 are associated with aniridia and Peter’s anomaly.<br />
+•	'''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-3''' mutations are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma.<br />
+•	'''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 ==
+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>.
-== Relevance ==
 == 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>
 == 3D Structures of paired box protein ==
 Updated on {{REVISIONDAY2}}-{{MONTHNAME|{{REVISIONMONTH}}}}-{{REVISIONYEAR}}
+{{#tree:id=OrganizedByTopic|openlevels=0|
-===PAX-6===
+*PAX-3
-[[6pax]] – hPAX + DNA - human<br />
-[[2cue]] – hPAX homeodomain – NMR<br />
-===PAX-5===
+**[[3cmy]] – hPAX homeodomain – NMR - human<br />
-[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA <br />
+*PAX-5
-===PAX-3===
+**[[1mdm]], [[1k78]] – hPAX paired domain + mETS1 ETS domain + MB-1 promoter DNA <br />
-[[3cmy]] – hPAX homeodomain – NMR<br />
+*PAX-6
-===PAX-8===
+**[[6pax]] – hPAX + DNA<br />
+**[[2cue]] – hPAX homeodomain – NMR<br />
-[[2k27]] – hPAX paired domain - NMR <br />
+*PAX-8
+**[[2k27]] – hPAX paired domain - NMR <br />
+}}
 == References ==