8u7m
From Proteopedia
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- | '''Unreleased structure''' | ||
- | + | ==Human retinal variant phosphomimetic IMPDH1(595)-S477D free octamer bound by GTP, ATP, IMP, and NAD+== | |
- | + | <StructureSection load='8u7m' size='340' side='right'caption='[[8u7m]], [[Resolution|resolution]] 3.10Å' scene=''> | |
- | + | == Structural highlights == | |
- | + | <table><tr><td colspan='2'>[[8u7m]] is a 8 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=8U7M OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8U7M FirstGlance]. <br> | |
- | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.1Å</td></tr> | |
- | [[Category: | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=GTP:GUANOSINE-5-TRIPHOSPHATE'>GTP</scene>, <scene name='pdbligand=IMP:INOSINIC+ACID'>IMP</scene>, <scene name='pdbligand=NAD:NICOTINAMIDE-ADENINE-DINUCLEOTIDE'>NAD</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=8u7m FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8u7m OCA], [https://pdbe.org/8u7m PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8u7m RCSB], [https://www.ebi.ac.uk/pdbsum/8u7m PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8u7m ProSAT]</span></td></tr> | ||
+ | </table> | ||
+ | == Disease == | ||
+ | [https://www.uniprot.org/uniprot/IMDH1_HUMAN IMDH1_HUMAN] Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10) [MIM:[https://omim.org/entry/180105 180105]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP10 inheritance is autosomal dominant.<ref>PMID:11875049</ref> <ref>PMID:11875050</ref> <ref>PMID:16384941</ref> Defects in IMPDH1 are the cause of Leber congenital amaurosis type 11 (LCA11) [MIM:[https://omim.org/entry/613837 613837]. LCA11 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.<ref>PMID:16384941</ref> | ||
+ | == Function == | ||
+ | [https://www.uniprot.org/uniprot/IMDH1_HUMAN IMDH1_HUMAN] Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.[HAMAP-Rule:MF_03156] | ||
+ | == References == | ||
+ | <references/> | ||
+ | __TOC__ | ||
+ | </StructureSection> | ||
+ | [[Category: Homo sapiens]] | ||
+ | [[Category: Large Structures]] | ||
+ | [[Category: Calise SJ]] | ||
+ | [[Category: Kollman JM]] |
Current revision
Human retinal variant phosphomimetic IMPDH1(595)-S477D free octamer bound by GTP, ATP, IMP, and NAD+
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