This old version of Proteopedia is provided for student assignments while the new version is undergoing repairs. Content and edits done in this old version of Proteopedia after March 1, 2026 will eventually be lost when it is retired in about June of 2026.
Apply for new accounts at the new Proteopedia. Your logins will work in both the old and new versions.
1pkx
From Proteopedia
m (Protected "1pkx" [edit=sysop:move=sysop]) |
|||
| Line 1: | Line 1: | ||
| - | [[Image:1pkx.png|left|200px]] | ||
| - | |||
{{STRUCTURE_1pkx| PDB=1pkx | SCENE= }} | {{STRUCTURE_1pkx| PDB=1pkx | SCENE= }} | ||
| - | |||
===Crystal Structure of human ATIC in complex with XMP=== | ===Crystal Structure of human ATIC in complex with XMP=== | ||
| + | {{ABSTRACT_PUBMED_14756553}} | ||
| - | + | ==Disease== | |
| + | [[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> | ||
| + | |||
| + | ==Function== | ||
| + | [[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== | ||
| Line 11: | Line 13: | ||
==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:014756553</ref><references group="xtra"/> | + | <ref group="xtra">PMID:014756553</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Cheong, C G.]] | [[Category: Cheong, C G.]] | ||
Revision as of 06:55, 25 March 2013
Contents |
Crystal Structure of human ATIC in complex with XMP
Template:ABSTRACT PUBMED 14756553
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
1pkx is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Wolan DW, Cheong CG, Greasley SE, Wilson IA. Structural insights into the human and avian IMP cyclohydrolase mechanism via crystal structures with the bound XMP inhibitor. Biochemistry. 2004 Feb 10;43(5):1171-83. PMID:14756553 doi:10.1021/bi030162i
- ↑ 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
- ↑ 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
- ↑ 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
