8xa9: Difference between revisions

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'''Unreleased structure'''


The entry 8xa9 is ON HOLD
==Human MGME1 in complex with 5'-overhang DNA==
 
<StructureSection load='8xa9' size='340' side='right'caption='[[8xa9]], [[Resolution|resolution]] 2.32&Aring;' scene=''>
Authors:  
== Structural highlights ==
 
<table><tr><td colspan='2'>[[8xa9]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Synthetic_construct Synthetic construct]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8XA9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8XA9 FirstGlance]. <br>
Description:  
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.32&#8491;</td></tr>
[[Category: Unreleased Structures]]
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</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=8xa9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8xa9 OCA], [https://pdbe.org/8xa9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8xa9 RCSB], [https://www.ebi.ac.uk/pdbsum/8xa9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8xa9 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/MGME1_HUMAN MGME1_HUMAN] Progressive external ophthalmoplegia - myopathy - emaciation. The disease may be caused by mutations affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/MGME1_HUMAN MGME1_HUMAN] Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.[HAMAP-Rule:MF_03030]<ref>PMID:23313956</ref> <ref>PMID:23358826</ref>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Synthetic construct]]
[[Category: Mao EYC]]
[[Category: Wu CC]]

Latest revision as of 11:22, 20 March 2024

Human MGME1 in complex with 5'-overhang DNAHuman MGME1 in complex with 5'-overhang DNA

Structural highlights

8xa9 is a 6 chain structure with sequence from Homo sapiens and Synthetic construct. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:X-ray diffraction, Resolution 2.32Å
Ligands:
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

MGME1_HUMAN Progressive external ophthalmoplegia - myopathy - emaciation. The disease may be caused by mutations affecting the gene represented in this entry.

Function

MGME1_HUMAN Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.[HAMAP-Rule:MF_03030][1] [2]

References

  1. Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13. PMID:23313956 doi:http://dx.doi.org/10.1038/ng.2501
  2. Szczesny RJ, Hejnowicz MS, Steczkiewicz K, Muszewska A, Borowski LS, Ginalski K, Dziembowski A. Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels. Nucleic Acids Res. 2013 Mar 1;41(5):3144-61. doi: 10.1093/nar/gkt029. Epub 2013, Jan 28. PMID:23358826 doi:http://dx.doi.org/10.1093/nar/gkt029

8xa9, resolution 2.32Å

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