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1pl0

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[[Image:1pl0.png|left|200px]]
 
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{{STRUCTURE_1pl0| PDB=1pl0 | SCENE= }}
{{STRUCTURE_1pl0| PDB=1pl0 | SCENE= }}
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===Crystal structure of human ATIC in complex with folate-based inhibitor, BW2315U89UC===
===Crystal structure of human ATIC in complex with folate-based inhibitor, BW2315U89UC===
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{{ABSTRACT_PUBMED_14966129}}
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{{ABSTRACT_PUBMED_14966129}}
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==Disease==
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[[http://www.uniprot.org/uniprot/PUR9_HUMAN PUR9_HUMAN]] Defects in ATIC are the cause of AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:[http://omim.org/entry/608688 608688]]. A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.<ref>PMID:14966129</ref><ref>PMID:15114530</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/PUR9_HUMAN PUR9_HUMAN]] Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.<ref>PMID:14966129</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:014966129</ref><references group="xtra"/>
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<ref group="xtra">PMID:014966129</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Beardsley, G P.]]
[[Category: Beardsley, G P.]]

Revision as of 04:58, 25 March 2013

Template:STRUCTURE 1pl0

Contents

Crystal structure of human ATIC in complex with folate-based inhibitor, BW2315U89UC

Template:ABSTRACT PUBMED 14966129

Disease

[PUR9_HUMAN] Defects in ATIC are the cause of AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688]. A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.[1][2]

Function

[PUR9_HUMAN] Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.[3]

About this Structure

1pl0 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Cheong CG, Wolan DW, Greasley SE, Horton PA, Beardsley GP, Wilson IA. Crystal structures of human bifunctional enzyme aminoimidazole-4-carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates. J Biol Chem. 2004 Apr 23;279(17):18034-45. Epub 2004 Feb 13. PMID:14966129 doi:10.1074/jbc.M313691200
  1. ↑ Cheong CG, Wolan DW, Greasley SE, Horton PA, Beardsley GP, Wilson IA. Crystal structures of human bifunctional enzyme aminoimidazole-4-carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates. J Biol Chem. 2004 Apr 23;279(17):18034-45. Epub 2004 Feb 13. PMID:14966129 doi:10.1074/jbc.M313691200
  2. ↑ Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. Epub 2004 Apr 26. PMID:15114530 doi:10.1086/421475
  3. ↑ Cheong CG, Wolan DW, Greasley SE, Horton PA, Beardsley GP, Wilson IA. Crystal structures of human bifunctional enzyme aminoimidazole-4-carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates. J Biol Chem. 2004 Apr 23;279(17):18034-45. Epub 2004 Feb 13. PMID:14966129 doi:10.1074/jbc.M313691200

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