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2lxi

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2lxi, 19 NMR models ()
Gene: RBM10, DXS8237E, GPATC9, GPATCH9, KIAA0122 (Homo sapiens)


Resources: FirstGlance, OCA, RCSB, PDBsum
Coordinates: save as pdb, mmCIF, xml


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

  1. 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
  2. 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

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