3siu: Difference between revisions
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{{STRUCTURE_3siu| PDB=3siu | SCENE= }} | {{STRUCTURE_3siu| PDB=3siu | SCENE= }} | ||
===Structure of a hPrp31-15.5K-U4atac 5' stem loop complex, monomeric form=== | |||
{{ABSTRACT_PUBMED_21784869}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PRP31_HUMAN PRP31_HUMAN]] Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:[http://omim.org/entry/600138 600138]]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP11 inheritance is autosomal dominant.<ref>PMID:17412961</ref><ref>PMID:12444105</ref><ref>PMID:11545739</ref><ref>PMID:8808602</ref><ref>PMID:12923864</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/NH2L1_HUMAN NH2L1_HUMAN]] Binds to the 5'-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The protein undergoes a conformational change upon RNA-binding.<ref>PMID:10545122</ref><ref>PMID:17412961</ref> [[http://www.uniprot.org/uniprot/PRP31_HUMAN PRP31_HUMAN]] Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation.<ref>PMID:11867543</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Nucleoprotein|Nucleoprotein]] | *[[Nucleoprotein|Nucleoprotein]] | ||
*[[Pre-mRNA-splicing factor|Pre-mRNA-splicing factor]] | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:021784869</ref><references group="xtra"/> | <ref group="xtra">PMID:021784869</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ghalei, H.]] | [[Category: Ghalei, H.]] | ||
