1pah

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[[Image:1pah.gif|left|200px]]
 
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{{Structure
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==HUMAN PHENYLALANINE HYDROXYLASE DIMER, RESIDUES 117-424==
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|PDB= 1pah |SIZE=350|CAPTION= <scene name='initialview01'>1pah</scene>, resolution 2.0&Aring;
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<StructureSection load='1pah' size='340' side='right'caption='[[1pah]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
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|SITE= <scene name='pdbsite=NUL:Fe+Coordinating+Residues'>NUL</scene>
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== Structural highlights ==
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|LIGAND= <scene name='pdbligand=FE:FE (III) ION'>FE</scene>
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<table><tr><td colspan='2'>[[1pah]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. The January 2005 RCSB PDB [https://pdb.rcsb.org/pdb/static.do?p=education_discussion/molecule_of_the_month/index.html Molecule of the Month] feature on ''Phenylalanine Hydroxylase'' by Shuchismita Dutta and David S. Goodsell is [https://dx.doi.org/10.2210/rcsb_pdb/mom_2005_1 10.2210/rcsb_pdb/mom_2005_1]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1PAH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1PAH FirstGlance]. <br>
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|ACTIVITY= [http://en.wikipedia.org/wiki/Phenylalanine_4-monooxygenase Phenylalanine 4-monooxygenase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.14.16.1 1.14.16.1]
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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]] 2&#8491;</td></tr>
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|GENE=
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=FE:FE+(III)+ION'>FE</scene></td></tr>
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}}
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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=1pah FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1pah OCA], [https://pdbe.org/1pah PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1pah RCSB], [https://www.ebi.ac.uk/pdbsum/1pah PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1pah ProSAT]</span></td></tr>
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</table>
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'''HUMAN PHENYLALANINE HYDROXYLASE DIMER, RESIDUES 117-424'''
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== Disease ==
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[https://www.uniprot.org/uniprot/PH4H_HUMAN PH4H_HUMAN] Defects in PAH are the cause of phenylketonuria (PKU) [MIM:[https://omim.org/entry/261600 261600]. PKU is an autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.<ref>PMID:8594560</ref> <ref>PMID:2840952</ref> <ref>PMID:2564729</ref> <ref>PMID:2615649</ref> <ref>PMID:1975559</ref> <ref>PMID:1671810</ref> <ref>PMID:2014802</ref> <ref>PMID:1672294</ref> <ref>PMID:1672290</ref> <ref>PMID:1679030</ref> <ref>PMID:1709636</ref> <ref>PMID:1355066</ref> <ref>PMID:1363837</ref> <ref>PMID:1363838</ref> <ref>PMID:8406445</ref> <ref>PMID:8068076</ref> <ref>PMID:7833954</ref> <ref>PMID:8889583</ref> <ref>PMID:8889590</ref> <ref>PMID:9048935</ref> <ref>PMID:9101291</ref> <ref>PMID:9521426</ref> <ref>PMID:9600453</ref> <ref>PMID:10200057</ref> <ref>PMID:9452061</ref> <ref>PMID:9452062</ref> <ref>PMID:9792407</ref> <ref>PMID:9792411</ref> <ref>PMID:9950317</ref> <ref>PMID:10679941</ref> <ref>PMID:11326337</ref> <ref>PMID:11180595</ref> <ref>PMID:11385716</ref> <ref>PMID:11461196</ref> <ref>PMID:12501224</ref> <ref>PMID:18538294</ref> <ref>PMID:22526846</ref> <ref>PMID:22513348</ref> Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:[https://omim.org/entry/261600 261600]. Non-PKU HPA is a mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:[https://omim.org/entry/261600 261600]. HPA is the mildest form of phenylalanine hydroxylase deficiency.<ref>PMID:9521426</ref> <ref>PMID:11385716</ref> <ref>PMID:12501224</ref> <ref>PMID:1358789</ref> <ref>PMID:8098245</ref> <ref>PMID:8088845</ref> <ref>PMID:9852673</ref> <ref>PMID:11935335</ref>
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== Function ==
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==Overview==
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[https://www.uniprot.org/uniprot/PH4H_HUMAN PH4H_HUMAN]
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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/pa/1pah_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=1pah ConSurf].
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<div style="clear:both"></div>
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<div style="background-color:#fffaf0;">
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== Publication Abstract from PubMed ==
The 2.0 A crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.
The 2.0 A crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.
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==Disease==
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Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.,Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC Nat Struct Biol. 1997 Dec;4(12):995-1000. PMID:9406548<ref>PMID:9406548</ref>
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Known diseases associated with this structure: Hyperphenylalaninemia, mild OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600 261600]], Phenylketonuria OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600 261600]]
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==About this Structure==
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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1PAH is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. The following page contains interesting information on the relation of 1PAH with [[http://pdb.rcsb.org/pdb/static.do?p=education_discussion/molecule_of_the_month/pdb61_1.html Phenylalanine Hydroxylase]]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1PAH OCA].
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</div>
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<div class="pdbe-citations 1pah" style="background-color:#fffaf0;"></div>
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==Reference==
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==See Also==
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Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria., Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC, Nat Struct Biol. 1997 Dec;4(12):995-1000. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/9406548 9406548]
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*[[Hydroxylase|Hydroxylase]]
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*[[Hydroxylases 3D structures|Hydroxylases 3D structures]]
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Phenylalanine 4-monooxygenase]]
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[[Category: Large Structures]]
[[Category: Phenylalanine Hydroxylase]]
[[Category: Phenylalanine Hydroxylase]]
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[[Category: Single protein]]
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[[Category: RCSB PDB Molecule of the Month]]
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[[Category: Erlandsen, H.]]
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[[Category: Erlandsen H]]
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[[Category: Stevens, R C.]]
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[[Category: Stevens RC]]
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[[Category: FE]]
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[[Category: hydroxylase]]
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[[Category: oxidoreductase]]
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[[Category: phenylalanine]]
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[[Category: phenylketonuria]]
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[[Category: pku]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 13:21:58 2008''
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Current revision

HUMAN PHENYLALANINE HYDROXYLASE DIMER, RESIDUES 117-424

PDB ID 1pah

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