1q7l

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Current revision (08:13, 14 February 2024) (edit) (undo)
 
(7 intermediate revisions not shown.)
Line 1: Line 1:
-
{{STRUCTURE_1q7l| PDB=1q7l | SCENE= }}
 
-
===Zn-binding domain of the T347G mutant of human aminoacylase-I===
 
-
{{ABSTRACT_PUBMED_12933810}}
 
-
==Disease==
+
==Zn-binding domain of the T347G mutant of human aminoacylase-I==
-
[[http://www.uniprot.org/uniprot/ACY1_HUMAN ACY1_HUMAN]] Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:[http://omim.org/entry/609924 609924]]. ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids.<ref>PMID:16465618</ref><ref>PMID:16274666</ref><ref>PMID:17562838</ref><ref>PMID:21414403</ref>
+
<StructureSection load='1q7l' size='340' side='right'caption='[[1q7l]], [[Resolution|resolution]] 1.40&Aring;' scene=''>
 +
== Structural highlights ==
 +
<table><tr><td colspan='2'>[[1q7l]] is a 4 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=1Q7L OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1Q7L FirstGlance]. <br>
 +
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.4&#8491;</td></tr>
 +
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GLY:GLYCINE'>GLY</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</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=1q7l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1q7l OCA], [https://pdbe.org/1q7l PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1q7l RCSB], [https://www.ebi.ac.uk/pdbsum/1q7l PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1q7l ProSAT]</span></td></tr>
 +
</table>
 +
== Disease ==
 +
[https://www.uniprot.org/uniprot/ACY1_HUMAN ACY1_HUMAN] Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:[https://omim.org/entry/609924 609924]. ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids.<ref>PMID:16465618</ref> <ref>PMID:16274666</ref> <ref>PMID:17562838</ref> <ref>PMID:21414403</ref>
 +
== Function ==
 +
[https://www.uniprot.org/uniprot/ACY1_HUMAN ACY1_HUMAN] Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).<ref>PMID:12933810</ref>
 +
== 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/q7/1q7l_consurf.spt"</scriptWhenChecked>
 +
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.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=1q7l ConSurf].
 +
<div style="clear:both"></div>
-
==Function==
+
==See Also==
-
[[http://www.uniprot.org/uniprot/ACY1_HUMAN ACY1_HUMAN]] Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).<ref>PMID:12933810</ref>
+
*[[Aminoacylase 3D structures|Aminoacylase 3D structures]]
-
 
+
== References ==
-
==About this Structure==
+
<references/>
-
[[1q7l]] is a 4 chain structure with 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=1Q7L OCA].
+
__TOC__
-
 
+
</StructureSection>
-
==Reference==
+
-
<ref group="xtra">PMID:012933810</ref><references group="xtra"/><references/>
+
-
[[Category: Aminoacylase]]
+
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
-
[[Category: Alary, A.]]
+
[[Category: Large Structures]]
-
[[Category: Cygler, M.]]
+
[[Category: Alary A]]
-
[[Category: Hecker, R.]]
+
[[Category: Cygler M]]
-
[[Category: Lindner, H A.]]
+
[[Category: Hecker R]]
-
[[Category: Lunin, V V.]]
+
[[Category: Lindner HA]]
-
[[Category: Menard, R.]]
+
[[Category: Lunin VV]]
-
[[Category: Aminoacylase-1]]
+
[[Category: Menard R]]
-
[[Category: Catalysis]]
+
-
[[Category: Enzyme dimerization]]
+
-
[[Category: Hydrolase]]
+
-
[[Category: Site-directed mutagenesis]]
+
-
[[Category: Structure comparison]]
+

Current revision

Zn-binding domain of the T347G mutant of human aminoacylase-I

PDB ID 1q7l

Drag the structure with the mouse to rotate

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/1q7l"
Personal tools