1x4q

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[[Image:1x4q.png|left|200px]]
 
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{{STRUCTURE_1x4q| PDB=1x4q | SCENE= }}
{{STRUCTURE_1x4q| PDB=1x4q | SCENE= }}
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===Solution structure of PWI domain in U4/U6 small nuclear ribonucleoprotein Prp3(hPrp3)===
===Solution structure of PWI domain in U4/U6 small nuclear ribonucleoprotein Prp3(hPrp3)===
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==Disease==
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[[http://www.uniprot.org/uniprot/PRPF3_HUMAN PRPF3_HUMAN]] Defects in PRPF3 are the cause of retinitis pigmentosa type 18 (RP18) [MIM:[http://omim.org/entry/601414 601414]]. 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. RP18 inheritance is autosomal dominant.<ref>PMID:11773002</ref><ref>PMID:12714658</ref><ref>PMID:17932117</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/PRPF3_HUMAN PRPF3_HUMAN]] Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex.
==About this Structure==
==About this Structure==
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*[[Nucleoprotein|Nucleoprotein]]
*[[Nucleoprotein|Nucleoprotein]]
*[[Pre-mRNA-splicing factor|Pre-mRNA-splicing factor]]
*[[Pre-mRNA-splicing factor|Pre-mRNA-splicing factor]]
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: He, F.]]
[[Category: He, F.]]

Revision as of 07:18, 25 March 2013

Template:STRUCTURE 1x4q

Contents

Solution structure of PWI domain in U4/U6 small nuclear ribonucleoprotein Prp3(hPrp3)

Disease

[PRPF3_HUMAN] Defects in PRPF3 are the cause of retinitis pigmentosa type 18 (RP18) [MIM:601414]. 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. RP18 inheritance is autosomal dominant.[1][2][3]

Function

[PRPF3_HUMAN] Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex.

About this Structure

1x4q is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

See Also

Reference

  1. ↑ Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Jan 1;11(1):87-92. PMID:11773002
  2. ↑ Martinez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Milla E, Ayuso C, Garcia-Sandoval B, Beneyto M, Vilela C, Baiget M, Antinolo G, Carballo M. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. PMID:12714658
  3. ↑ Gonzalez-Santos JM, Cao H, Duan RC, Hu J. Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. Hum Mol Genet. 2008 Jan 15;17(2):225-39. Epub 2007 Oct 11. PMID:17932117 doi:ddm300

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