2lxi
From Proteopedia
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{{STRUCTURE_2lxi| PDB=2lxi | SCENE= }} | {{STRUCTURE_2lxi| PDB=2lxi | SCENE= }} | ||
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===NMR structure of the N-terminal RNA Binding domain 1 (RRM1) of the protein RBM10 from Homo sapiens=== | ===NMR structure of the N-terminal RNA Binding domain 1 (RRM1) of the protein RBM10 from Homo sapiens=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/RBM10_HUMAN RBM10_HUMAN]] TARP syndrome. TARP syndrome (TARPS) [MIM:[http://omim.org/entry/311900 311900]]: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:20451169</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/RBM10_HUMAN RBM10_HUMAN]] May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity).<ref>PMID:18315527</ref> | ||
==About this Structure== | ==About this Structure== | ||
| - | [[2lxi]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LXI OCA]. | + | [[2lxi]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LXI OCA]. |
| - | [[Category: Dutta, S.]] | + | |
| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Dutta, S K.]] | ||
[[Category: Geralt, M.]] | [[Category: Geralt, M.]] | ||
[[Category: JCSG, Joint Center for Structural Genomics.]] | [[Category: JCSG, Joint Center for Structural Genomics.]] | ||
Revision as of 21:07, 19 June 2013
Contents |
NMR structure of the N-terminal RNA Binding domain 1 (RRM1) of the protein RBM10 from Homo sapiens
Disease
[RBM10_HUMAN] TARP syndrome. TARP syndrome (TARPS) [MIM:311900]: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. Note=The disease is caused by mutations affecting the gene represented in this entry.[1]
Function
[RBM10_HUMAN] May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity).[2]
About this Structure
2lxi is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- ↑ Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub, 2010 May 6. PMID:20451169 doi:10.1016/j.ajhg.2010.04.007
- ↑ Inoue A, Tsugawa K, Tokunaga K, Takahashi KP, Uni S, Kimura M, Nishio K, Yamamoto N, Honda K, Watanabe T, Yamane H, Tani T. S1-1 nuclear domains: characterization and dynamics as a function of transcriptional activity. Biol Cell. 2008 Sep;100(9):523-35. PMID:18315527 doi:BC20070142
