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Sandbox Reserved 939
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<StructureSection load='3egn' size='350' side='right' caption='Crystal structure of the human U11/U12-65K protein (PDB ID: [[3egn]]).' scene='57/579709/3egn/4'> | <StructureSection load='3egn' size='350' side='right' caption='Crystal structure of the human U11/U12-65K protein (PDB ID: [[3egn]]).' scene='57/579709/3egn/4'> | ||
| - | '''U11/U12-65K''' is one of the proteins specific for the minor spliceosome. Most eukaryotic genomes harbor two types of spliceosomal introns, called U2-type and U12-type introns, which are excised by two different spliceosomes. U12-type introns are rare, and only present a small fraction of introns in any given eukaryotic genome. The U12-dependent spliceosome, also called the minor spliceosome, is responsible for the removal of these rare introns. Both spliceosomes consist of five small nuclear ribonucleoprotein particles (snRNPs), which are U1, U2, U4, U5 and U6 for the U2-dependent spliceosome and U11, U12, U4atac, U5 and U6atac for the U12-dependent spliceosome. The protein composition of the two spliceosomes is similar, and so far only seven proteins specific for the minor spliceosome have been identified<ref>PMID:10373121</ref><ref>PMID:11971955</ref><ref name="will_etal_2004">PMID:15146077</ref>. All seven proteins (called 65K, 59K, 48K, 35K, 31K, 25K and 20K) are components of the U11/U12 di-snRNP<ref name="will_etal_2004" /> that is responsible for the initial recognition of the U12-type splice sites and bridging of the 5' and 3' ends of the intron. | + | '''U11/U12-65K''' is one of the proteins specific for the minor spliceosome. Most eukaryotic genomes harbor two types of spliceosomal introns, called U2-type and U12-type introns, which are excised by two different spliceosomes. U12-type introns are rare, and only present a small fraction of introns in any given eukaryotic genome. The U12-dependent spliceosome, also called the minor spliceosome, is responsible for the removal of these rare introns. Both spliceosomes consist of five small nuclear ribonucleoprotein particles (snRNPs), which are U1, U2, U4, U5 and U6 for the U2-dependent spliceosome and U11, U12, U4atac, U5 and U6atac for the U12-dependent spliceosome. The protein composition of the two spliceosomes is similar, and so far only seven proteins specific for the minor spliceosome have been identified<ref>PMID:10373121</ref><ref>PMID:11971955</ref><ref name="will_etal_2004">PMID:15146077</ref>. All seven proteins (called 65K, 59K, 48K, 35K, 31K, 25K and 20K) are components of the U11/U12 di-snRNP<ref name="will_etal_2004" /> that is responsible for the initial recognition of the U12-type splice sites and bridging of the 5' and 3' ends of the intron. The U11/U12-65K protein |
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| + | ==Structure== | ||
| - | ==Crystal structure of human U11/U12-65K== | + | ===Crystal structure of human U11/U12-65K=== |
The structure of the C-terminal RNA recognition motif (RRM) and an N-terminal extension (amino acids 380-517) of human U11/U12-65K has been determined by X-ray crystallography<ref>PMID:19447915</ref>. | The structure of the C-terminal RNA recognition motif (RRM) and an N-terminal extension (amino acids 380-517) of human U11/U12-65K has been determined by X-ray crystallography<ref>PMID:19447915</ref>. | ||
==Disease association== | ==Disease association== | ||
| - | Mutations in the gene encoding the U11/U12-65K protein (''RNPC3'') were recently shown to cause isolated growth hormone deficiency and pituitary hypoplasia<ref>PMID:24480542</ref>. | + | Mutations in the gene encoding the U11/U12-65K protein (''RNPC3'') were recently shown to cause isolated growth hormone deficiency (IGHD) and pituitary hypoplasia<ref>PMID:24480542</ref>. |
==References== | ==References== | ||
<references /> | <references /> | ||
Revision as of 11:00, 9 May 2014
| This Sandbox is Reserved from 01/04/2014, through 30/06/2014 for use in the course "510042. Protein structure, function and folding" taught by Prof Adrian Goldman, Tommi Kajander, Taru Meri, Konstantin Kogan and Juho Kellosalo at the University of Helsinki. This reservation includes Sandbox Reserved 923 through Sandbox Reserved 947. |
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