View source for 8u8o


==Human retinal variant phosphomimetic IMPDH1(546)-S477D filament bound by ATP, IMP, and NAD+, octamer-centered==
<StructureSection load='8u8o' size='340' side='right'caption='[[8u8o]], [[Resolution|resolution]] 2.40&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8u8o]] 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=8U8O OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8U8O 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]] 2.4&#8491;</td></tr>
<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=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=8u8o FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8u8o OCA], [https://pdbe.org/8u8o PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8u8o RCSB], [https://www.ebi.ac.uk/pdbsum/8u8o PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8u8o 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/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Calise SJ]]
[[Category: Kollman JM]]