3ucg

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[[Image:3ucg.png|left|200px]]
 
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{{STRUCTURE_3ucg| PDB=3ucg | SCENE= }}
{{STRUCTURE_3ucg| PDB=3ucg | SCENE= }}
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===Crystal structure of a RNA binding domain of Hypothetical POLYADENYLATE-BINDING PROTEIN (PABPN1) from Homo sapiens at 1.95 A resolution===
===Crystal structure of a RNA binding domain of Hypothetical POLYADENYLATE-BINDING PROTEIN (PABPN1) from Homo sapiens at 1.95 A resolution===
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==Disease==
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[[http://www.uniprot.org/uniprot/PABP2_HUMAN PABP2_HUMAN]] Defects in PABPN1 are the cause of oculopharyngeal muscular dystrophy (OPMD) [MIM:[http://omim.org/entry/164300 164300]]. OPMD is a form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement.<ref>PMID:9462747</ref><ref>PMID:12673802</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/PABP2_HUMAN PABP2_HUMAN]] Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity).<ref>PMID:11689481</ref><ref>PMID:11371506</ref>
==About this Structure==
==About this Structure==
[[3ucg]] is a 1 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=3UCG OCA].
[[3ucg]] is a 1 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=3UCG OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: JCSG, Joint Center for Structural Genomics.]]
[[Category: JCSG, Joint Center for Structural Genomics.]]

Revision as of 04:50, 25 March 2013

Template:STRUCTURE 3ucg

Contents

Crystal structure of a RNA binding domain of Hypothetical POLYADENYLATE-BINDING PROTEIN (PABPN1) from Homo sapiens at 1.95 A resolution

Disease

[PABP2_HUMAN] Defects in PABPN1 are the cause of oculopharyngeal muscular dystrophy (OPMD) [MIM:164300]. OPMD is a form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement.[1][2]

Function

[PABP2_HUMAN] Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity).[3][4]

About this Structure

3ucg is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998 Feb;18(2):164-7. PMID:9462747 doi:10.1038/ng0298-164
  2. ↑ van der Sluijs BM, van Engelen BG, Hoefsloot LH. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat. 2003 May;21(5):553. PMID:12673802 doi:10.1002/humu.9138
  3. ↑ Fan X, Dion P, Laganiere J, Brais B, Rouleau GA. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum Mol Genet. 2001 Oct 1;10(21):2341-51. PMID:11689481
  4. ↑ Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K. The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum Mol Genet. 2001 May 15;10(11):1129-39. PMID:11371506

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