1l8l
From Proteopedia
(Difference between revisions)
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- | [[Image:1l8l.png|left|200px]] | ||
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{{STRUCTURE_1l8l| PDB=1l8l | SCENE= }} | {{STRUCTURE_1l8l| PDB=1l8l | SCENE= }} | ||
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===Molecular basis for the local confomational rearrangement of human phosphoserine phosphatase=== | ===Molecular basis for the local confomational rearrangement of human phosphoserine phosphatase=== | ||
+ | {{ABSTRACT_PUBMED_12213811}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/SERB_HUMAN SERB_HUMAN]] Defects in PSPH are the cause of phosphoserine phosphatase deficiency (PSPHD)[MIM:[http://omim.org/entry/614023 614023]]. A disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.<ref>PMID:14673469</ref> | ||
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+ | ==Function== | ||
+ | [[http://www.uniprot.org/uniprot/SERB_HUMAN SERB_HUMAN]] Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.<ref>PMID:12777757</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
- | <ref group="xtra">PMID:012213811</ref><references group="xtra"/> | + | <ref group="xtra">PMID:012213811</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Phosphoserine phosphatase]] | [[Category: Phosphoserine phosphatase]] |
Revision as of 12:26, 24 March 2013
Contents |
Molecular basis for the local confomational rearrangement of human phosphoserine phosphatase
Template:ABSTRACT PUBMED 12213811
Disease
[SERB_HUMAN] Defects in PSPH are the cause of phosphoserine phosphatase deficiency (PSPHD)[MIM:614023]. A disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.[1]
Function
[SERB_HUMAN] Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.[2]
About this Structure
1l8l is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Kim HY, Heo YS, Kim JH, Park MH, Moon J, Kim E, Kwon D, Yoon J, Shin D, Jeong EJ, Park SY, Lee TG, Jeon YH, Ro S, Cho JM, Hwang KY. Molecular basis for the local conformational rearrangement of human phosphoserine phosphatase. J Biol Chem. 2002 Nov 29;277(48):46651-8. Epub 2002 Sep 3. PMID:12213811 doi:10.1074/jbc.M204866200
- ↑ Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E. Mutations responsible for 3-phosphoserine phosphatase deficiency. Eur J Hum Genet. 2004 Feb;12(2):163-6. PMID:14673469 doi:10.1038/sj.ejhg.5201083
- ↑ Peeraer Y, Rabijns A, Verboven C, Collet JF, Van Schaftingen E, De Ranter C. High-resolution structure of human phosphoserine phosphatase in open conformation. Acta Crystallogr D Biol Crystallogr. 2003 Jun;59(Pt 6):971-7. Epub 2003, May 23. PMID:12777757