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[[Image:1jcn.gif|left|200px]]


{{Structure
==BINARY COMPLEX OF HUMAN TYPE-I INOSINE MONOPHOSPHATE DEHYDROGENASE WITH 6-CL-IMP==
|PDB= 1jcn |SIZE=350|CAPTION= <scene name='initialview01'>1jcn</scene>, resolution 2.50&Aring;
<StructureSection load='1jcn' size='340' side='right'caption='[[1jcn]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
|SITE=  
== Structural highlights ==
|LIGAND= <scene name='pdbligand=CPR:6-CHLOROPURINE RIBOSIDE, 5&#39;-MONOPHOSPHATE'>CPR</scene>
<table><tr><td colspan='2'>[[1jcn]] is a 2 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=1JCN OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1JCN FirstGlance]. <br>
|ACTIVITY= [http://en.wikipedia.org/wiki/IMP_dehydrogenase IMP dehydrogenase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.1.1.205 1.1.1.205]  
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.5&#8491;</td></tr>
|GENE= impdh1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CPR:6-CHLOROPURINE+RIBOSIDE,+5-MONOPHOSPHATE'>CPR</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=1jcn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1jcn OCA], [https://pdbe.org/1jcn PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1jcn RCSB], [https://www.ebi.ac.uk/pdbsum/1jcn PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1jcn 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]
== 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/jc/1jcn_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.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=1jcn ConSurf].
<div style="clear:both"></div>


'''BINARY COMPLEX OF HUMAN TYPE-I INOSINE MONOPHOSPHATE DEHYDROGENASE WITH 6-CL-IMP'''
==See Also==
 
*[[Inosine monophosphate dehydrogenase 3D structures|Inosine monophosphate dehydrogenase 3D structures]]
 
== References ==
==Disease==
<references/>
Known diseases associated with this structure: Leber congenital amaurosis XI OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690 146690]], Retinitis pigmentosa-10 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690 146690]]
__TOC__
 
</StructureSection>
==About this Structure==
1JCN is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1JCN OCA].
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: IMP dehydrogenase]]
[[Category: Large Structures]]
[[Category: Single protein]]
[[Category: Goldstein BM]]
[[Category: Goldstein, B M.]]
[[Category: Risal D]]
[[Category: Risal, D.]]
[[Category: Strickler MD]]
[[Category: Strickler, M D.]]
[[Category: CPR]]
[[Category: dehydrogenase]]
[[Category: guanine nucleotide synthesis]]
[[Category: impd]]
[[Category: impdh]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Mar 23 12:19:45 2008''

Latest revision as of 12:37, 25 December 2024

BINARY COMPLEX OF HUMAN TYPE-I INOSINE MONOPHOSPHATE DEHYDROGENASE WITH 6-CL-IMPBINARY COMPLEX OF HUMAN TYPE-I INOSINE MONOPHOSPHATE DEHYDROGENASE WITH 6-CL-IMP

Structural highlights

1jcn is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:X-ray diffraction, Resolution 2.5Å
Ligands:
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

IMDH1_HUMAN Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10) [MIM: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.[1] [2] [3] Defects in IMPDH1 are the cause of Leber congenital amaurosis type 11 (LCA11) [MIM: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.[4]

Function

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]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

References

  1. ↑ Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Hum Mol Genet. 2002 Mar 1;11(5):547-57. PMID:11875049
  2. ↑ Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Mar 1;11(5):559-68. PMID:11875050
  3. ↑ Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. PMID:16384941 doi:10.1167/iovs.05-0868
  4. ↑ Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. PMID:16384941 doi:10.1167/iovs.05-0868

1jcn, resolution 2.50Å

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