3m03
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[3m03]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3M03 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3M03 FirstGlance]. <br> | <table><tr><td colspan='2'>[[3m03]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3M03 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3M03 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=MES:2-(N-MORPHOLINO)-ETHANESULFONIC+ACID'>MES</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene>< | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=MES:2-(N-MORPHOLINO)-ETHANESULFONIC+ACID'>MES</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr> |
| - | <tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ORC6 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | + | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ORC6 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3m03 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3m03 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3m03 RCSB], [http://www.ebi.ac.uk/pdbsum/3m03 PDBsum]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3m03 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3m03 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3m03 RCSB], [http://www.ebi.ac.uk/pdbsum/3m03 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/ORC6_HUMAN ORC6_HUMAN]] Ear-patella-short stature syndrome. Defects in ORC6 are the cause of Meier-Gorlin syndrome type 3 (MGORS3) [MIM:[http://omim.org/entry/613803 613803]]. MGORS3 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.<ref>PMID:21358632</ref> | [[http://www.uniprot.org/uniprot/ORC6_HUMAN ORC6_HUMAN]] Ear-patella-short stature syndrome. Defects in ORC6 are the cause of Meier-Gorlin syndrome type 3 (MGORS3) [MIM:[http://omim.org/entry/613803 613803]]. MGORS3 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.<ref>PMID:21358632</ref> | ||
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Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB.,Liu S, Balasov M, Wang H, Wu L, Chesnokov IN, Liu Y Proc Natl Acad Sci U S A. 2011 Apr 18. PMID:21502537<ref>PMID:21502537</ref> | Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB.,Liu S, Balasov M, Wang H, Wu L, Chesnokov IN, Liu Y Proc Natl Acad Sci U S A. 2011 Apr 18. PMID:21502537<ref>PMID:21502537</ref> | ||
| - | From | + | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> |
</div> | </div> | ||
== References == | == References == | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Human]] | [[Category: Human]] | ||
| - | [[Category: Liu, S X | + | [[Category: Liu, S X]] |
| - | [[Category: Liu, Y F | + | [[Category: Liu, Y F]] |
| - | [[Category: Sun, J | + | [[Category: Sun, J]] |
| - | [[Category: Wang, H F | + | [[Category: Wang, H F]] |
| - | [[Category: Wu, L J | + | [[Category: Wu, L J]] |
[[Category: Dna binding protein]] | [[Category: Dna binding protein]] | ||
[[Category: Dna replication]] | [[Category: Dna replication]] | ||
[[Category: Helix turn helix]] | [[Category: Helix turn helix]] | ||
[[Category: Origin recognition complex]] | [[Category: Origin recognition complex]] | ||
Revision as of 21:49, 3 January 2015
Crystal structure of human Orc6 fragment
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