View source for 3cmy


==Structure of a homeodomain in complex with DNA==
<StructureSection load='3cmy' size='340' side='right'caption='[[3cmy]], [[Resolution|resolution]] 1.95&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[3cmy]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3CMY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3CMY FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.95&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3cmy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3cmy OCA], [https://pdbe.org/3cmy PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3cmy RCSB], [https://www.ebi.ac.uk/pdbsum/3cmy PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3cmy ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/PAX3_HUMAN PAX3_HUMAN] Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:[https://omim.org/entry/193500 193500]. WS1 is an autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum), pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals do not manifest hearing impairment.<ref>PMID:7981674</ref> <ref>PMID:1347148</ref> <ref>PMID:1303193</ref> <ref>PMID:1347149</ref> <ref>PMID:8490648</ref> <ref>PMID:8447316</ref> <ref>PMID:7833953</ref> <ref>PMID:7825605</ref> <ref>PMID:8533800</ref> <ref>PMID:8589691</ref> <ref>PMID:8845842</ref> <ref>PMID:9067759</ref> <ref>PMID:9452070</ref> <ref>PMID:9541113</ref> [:]<ref>PMID:10779847</ref> <ref>PMID:12949970</ref>   Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:[https://omim.org/entry/148820 148820]; also known as Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3 is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionally present with musculoskeletal abnormalities.  Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:[https://omim.org/entry/122880 122880]. CDHS is thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.<ref>PMID:8664898</ref>   Defects in PAX3 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:[https://omim.org/entry/268220 268220]. It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.  Note=A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.
== Function ==
[https://www.uniprot.org/uniprot/PAX3_HUMAN PAX3_HUMAN] Probable transcription factor associated with development of alveolar rhabdomyosarcoma.
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cm/3cmy_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=3cmy ConSurf].
<div style="clear:both"></div>

==See Also==
*[[Paired box protein|Paired box protein]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Birrane G]]
[[Category: Ladias JAA]]
[[Category: Soni A]]