1hmp: Difference between revisions

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~~[[Image:1hmp.png|left|200px]]~~

===THE CRYSTAL STRUCTURE OF HUMAN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE WITH BOUND GMP===

===~~THE CRYSTAL STRUCTURE OF HUMAN HYPOXANTHINE~~-~~GUANINE PHOSPHORIBOSYLTRANSFERASE WITH BOUND GMP===~~

==Disease==

[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:[http://omim.org/entry/300322 300322]]. LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.<ref>PMID:6853716</ref><ref>PMID:3384338</ref><ref>PMID:3265398</ref><ref>PMID:2910902</ref><ref>PMID:2347587</ref><ref>PMID:2358296</ref><ref>PMID:2246854</ref><ref>PMID:2071157</ref><ref>PMID:7627191</ref><ref>PMID:9452051</ref> Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:[http://omim.org/entry/300323 300323]]; also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia.<ref>PMID:6853490</ref><ref>PMID:6572373</ref><ref>PMID:6706936</ref><ref>PMID:3358423</ref><ref>PMID:3198771</ref><ref>PMID:2909537</ref>[:]

~~{{ABSTRACT_PUBMED_8044844}}~~

==Function==

[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.

==About this Structure==

[[1hmp]] is a 2 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=1HMP OCA].

==See Also==

*[[Phosphoribosyltransferase|Phosphoribosyltransferase]]

==Reference==

[[Category: Homo sapiens]]

[[Category: Hypoxanthine phosphoribosyltransferase]]

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@@ Line 1: / Line 1: @@
-[[Image:1hmp.png|left|200px]]
 {{STRUCTURE_1hmp|  PDB=1hmp  |  SCENE=  }}
+===THE CRYSTAL STRUCTURE OF HUMAN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE WITH BOUND GMP===
+{{ABSTRACT_PUBMED_8044844}}
-===THE CRYSTAL STRUCTURE OF HUMAN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE WITH BOUND GMP===
+==Disease==
+[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:[http://omim.org/entry/300322 300322]]. LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.<ref>PMID:6853716</ref><ref>PMID:3384338</ref><ref>PMID:3265398</ref><ref>PMID:2910902</ref><ref>PMID:2347587</ref><ref>PMID:2358296</ref><ref>PMID:2246854</ref><ref>PMID:2071157</ref><ref>PMID:7627191</ref><ref>PMID:9452051</ref>  Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:[http://omim.org/entry/300323 300323]]; also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia.<ref>PMID:6853490</ref><ref>PMID:6572373</ref><ref>PMID:6706936</ref><ref>PMID:3358423</ref><ref>PMID:3198771</ref><ref>PMID:2909537</ref>[:]
-{{ABSTRACT_PUBMED_8044844}}
+==Function==
+[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
 ==About this Structure==
 [[1hmp]] is a 2 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=1HMP OCA].
+==See Also==
+*[[Phosphoribosyltransferase|Phosphoribosyltransferase]]
 ==Reference==
-<ref group="xtra">PMID:008044844</ref><references group="xtra"/>
+<ref group="xtra">PMID:008044844</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Hypoxanthine phosphoribosyltransferase]]