2m2b

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NMR structure of the RRM2 domain of the protein RBM10 from Homo sapiens

Structural highlights

2m2b is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:Solution NMR
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

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]

References

  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

Contents


PDB ID 2m2b

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