1fb1

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{{Seed}}
 
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[[Image:1fb1.png|left|200px]]
 
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==CRYSTAL STRUCTURE OF HUMAN GTP CYCLOHYDROLASE I==
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The line below this paragraph, containing "STRUCTURE_1fb1", creates the "Structure Box" on the page.
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<StructureSection load='1fb1' size='340' side='right'caption='[[1fb1]], [[Resolution|resolution]] 3.10&Aring;' scene=''>
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You may change the PDB parameter (which sets the PDB file loaded into the applet)
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[1fb1]] is a 5 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=1FB1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1FB1 FirstGlance]. <br>
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or leave the SCENE parameter empty for the default display.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.1&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=IPA:ISOPROPYL+ALCOHOL'>IPA</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
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{{STRUCTURE_1fb1| PDB=1fb1 | SCENE= }}
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1fb1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1fb1 OCA], [https://pdbe.org/1fb1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1fb1 RCSB], [https://www.ebi.ac.uk/pdbsum/1fb1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1fb1 ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/GCH1_HUMAN GCH1_HUMAN] Defects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:[https://omim.org/entry/233910 233910]; also known as atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency;. GCH1D is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia type 5 (dystonia-parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.<ref>PMID:7501255</ref> <ref>PMID:9667588</ref> Defects in GCH1 are the cause of dystonia type 5 (DYT5) [MIM:[https://omim.org/entry/128230 128230]; also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia-parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and excercise. There is a favorable response to L-DOPA without side effects.<ref>PMID:7501255</ref> <ref>PMID:7874165</ref> <ref>PMID:8957022</ref> <ref>PMID:8852666</ref> <ref>PMID:9120469</ref> <ref>PMID:9328244</ref> <ref>PMID:9778264</ref> <ref>PMID:10987649</ref> <ref>PMID:10582612</ref> <ref>PMID:10208576</ref> <ref>PMID:10076897</ref> <ref>PMID:10825351</ref> <ref>PMID:11113234</ref> <ref>PMID:12391354</ref> <ref>PMID:17101830</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/GCH1_HUMAN GCH1_HUMAN] Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.<ref>PMID:8068008</ref> <ref>PMID:9445252</ref> <ref>PMID:12176133</ref> <ref>PMID:16338639</ref> <ref>PMID:17057711</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/fb/1fb1_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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=1fb1 ConSurf].
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<div style="clear:both"></div>
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===CRYSTAL STRUCTURE OF HUMAN GTP CYCLOHYDROLASE I===
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==See Also==
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*[[Cyclohydrolase 3D structures|Cyclohydrolase 3D structures]]
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== References ==
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<references/>
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The line below this paragraph, {{ABSTRACT_PUBMED_11087827}}, adds the Publication Abstract to the page
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__TOC__
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(as it appears on PubMed at http://www.pubmed.gov), where 11087827 is the PubMed ID number.
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</StructureSection>
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{{ABSTRACT_PUBMED_11087827}}
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==About this Structure==
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1FB1 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=1FB1 OCA].
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==Reference==
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Zinc plays a key role in human and bacterial GTP cyclohydrolase I., Auerbach G, Herrmann A, Bracher A, Bader G, Gutlich M, Fischer M, Neukamm M, Garrido-Franco M, Richardson J, Nar H, Huber R, Bacher A, Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):13567-72. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/11087827 11087827]
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[[Category: GTP cyclohydrolase I]]
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Single protein]]
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[[Category: Large Structures]]
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[[Category: Auerbach, G.]]
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[[Category: Auerbach G]]
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[[Category: Bacher, A.]]
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[[Category: Bacher A]]
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[[Category: Bader, G.]]
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[[Category: Bader G]]
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[[Category: Bracher, A.]]
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[[Category: Bracher A]]
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[[Category: Fischer, M.]]
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[[Category: Fischer M]]
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[[Category: Garrido-Franco, M.]]
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[[Category: Garrido-Franco M]]
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[[Category: Gutlich, M.]]
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[[Category: Gutlich M]]
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[[Category: Herrmann, A.]]
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[[Category: Herrmann A]]
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[[Category: Huber, R.]]
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[[Category: Huber R]]
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[[Category: Nar, H.]]
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[[Category: Nar H]]
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[[Category: Neukamm, M.]]
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[[Category: Neukamm M]]
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[[Category: Richardson, J.]]
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[[Category: Richardson J]]
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[[Category: Allosteric enzyme]]
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[[Category: Hydrolase]]
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[[Category: Phosphorylation]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Tue Jul 1 02:59:00 2008''
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Current revision

CRYSTAL STRUCTURE OF HUMAN GTP CYCLOHYDROLASE I

PDB ID 1fb1

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