3b4m: Difference between revisions
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{{STRUCTURE_3b4m| PDB=3b4m | SCENE= }} | {{STRUCTURE_3b4m| PDB=3b4m | SCENE= }} | ||
===Crystal Structure of Human PABPN1 RRM=== | |||
=== | ==Disease== | ||
[[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> | |||
==Function== | |||
[[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== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018275081</ref><references group="xtra"/> | <ref group="xtra">PMID:018275081</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ge, H.]] | [[Category: Ge, H.]] | ||
