3lp7
From Proteopedia
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{{STRUCTURE_3lp7| PDB=3lp7 | SCENE= }} | {{STRUCTURE_3lp7| PDB=3lp7 | SCENE= }} | ||
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===Crystal structure of Human Arginase I in complex with inhibitor N(omega)-hydroxy-L-arginine (NOHA), 2.04A Resolution=== | ===Crystal structure of Human Arginase I in complex with inhibitor N(omega)-hydroxy-L-arginine (NOHA), 2.04A Resolution=== | ||
| + | {{ABSTRACT_PUBMED_20153713}} | ||
| - | + | ==Disease== | |
| - | + | [[http://www.uniprot.org/uniprot/ARGI1_HUMAN ARGI1_HUMAN]] Defects in ARG1 are the cause of argininemia (ARGIN) [MIM:[http://omim.org/entry/207800 207800]]; also known as hyperargininemia. Argininemia is a rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia, progressive spastic quadriplegia.<ref>PMID:1463019</ref><ref>PMID:7649538</ref> | |
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==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID: | + | <ref group="xtra">PMID:020153713</ref><references group="xtra"/><references/> |
[[Category: Arginase]] | [[Category: Arginase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Christianson, D W.]] | [[Category: Christianson, D W.]] | ||
[[Category: Costanzo, L Di.]] | [[Category: Costanzo, L Di.]] | ||
| - | [[Category: Alternative splicing]] | ||
[[Category: Arginine metabolism]] | [[Category: Arginine metabolism]] | ||
| - | [[Category: Cytoplasm]] | ||
[[Category: Disease mutation]] | [[Category: Disease mutation]] | ||
[[Category: Hydrolase]] | [[Category: Hydrolase]] | ||
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[[Category: Noha inhibition]] | [[Category: Noha inhibition]] | ||
[[Category: Phosphoprotein]] | [[Category: Phosphoprotein]] | ||
| - | [[Category: Polymorphism]] | ||
[[Category: Urea cycle]] | [[Category: Urea cycle]] | ||
Revision as of 06:00, 25 March 2013
Contents |
Crystal structure of Human Arginase I in complex with inhibitor N(omega)-hydroxy-L-arginine (NOHA), 2.04A Resolution
Template:ABSTRACT PUBMED 20153713
Disease
[ARGI1_HUMAN] Defects in ARG1 are the cause of argininemia (ARGIN) [MIM:207800]; also known as hyperargininemia. Argininemia is a rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia, progressive spastic quadriplegia.[1][2]
About this Structure
3lp7 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Di Costanzo L, Ilies M, Thorn KJ, Christianson DW. Inhibition of human arginase I by substrate and product analogues. Arch Biochem Biophys. 2010 Apr 15;496(2):101-8. Epub 2010 Feb 12. PMID:20153713 doi:10.1016/j.abb.2010.02.004
- ↑ Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I. Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. Am J Hum Genet. 1992 Dec;51(6):1406-12. PMID:1463019
- ↑ Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I. Molecular basis of phenotypic variation in patients with argininemia. Hum Genet. 1995 Sep;96(3):255-60. PMID:7649538
