MBNL1
Muscleblind-like (Drosophila) | |||||||||||
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Identifiers | |||||||||||
Symbols | MBNL1 ; DKFZp686P06174; EXP; EXP35; EXP40; EXP42; KIAA0428; MBNL | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 23186 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE MBNL1 201153 s at tn.png | |||||||||||
File:PBB GE MBNL1 201151 s at tn.png | |||||||||||
File:PBB GE MBNL1 201152 s at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Muscleblind-like (Drosophila), also known as MBNL1, is a human gene.[1]
References
Further reading
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Ishikawa K, Nagase T, Nakajima D; et al. (1998). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 4 (5): 307–13. PMID 9455477.
- Miller JW, Urbinati CR, Teng-Umnuay P; et al. (2000). "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy". EMBO J. 19 (17): 4439–48. doi:10.1093/emboj/19.17.4439. PMID 10970838.
- Fardaei M, Larkin K, Brook JD, Hamshere MG (2001). "In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts". Nucleic Acids Res. 29 (13): 2766–71. PMID 11433021.
- Mankodi A, Urbinati CR, Yuan QP; et al. (2001). "Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2". Hum. Mol. Genet. 10 (19): 2165–70. PMID 11590133.
- Fardaei M, Rogers MT, Thorpe HM; et al. (2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Hum. Mol. Genet. 11 (7): 805–14. PMID 11929853.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Kino Y, Mori D, Oma Y; et al. (2004). "Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats". Hum. Mol. Genet. 13 (5): 495–507. doi:10.1093/hmg/ddh056. PMID 14722159.
- Ho TH, Charlet-B N, Poulos MG; et al. (2005). "Muscleblind proteins regulate alternative splicing". EMBO J. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMID 15257297.
- Dansithong W, Paul S, Comai L, Reddy S (2005). "MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1". J. Biol. Chem. 280 (7): 5773–80. doi:10.1074/jbc.M410781200. PMID 15546872.
- Ho TH, Savkur RS, Poulos MG; et al. (2005). "Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy". J. Cell. Sci. 118 (Pt 13): 2923–33. doi:10.1242/jcs.02404. PMID 15961406.
- Adereth Y, Dammai V, Kose N; et al. (2006). "RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1". Nat. Cell Biol. 7 (12): 1240–7. doi:10.1038/ncb1335. PMID 16273094.
- Monferrer L, Artero R (2006). "An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses". J. Hered. 97 (1): 67–73. doi:10.1093/jhered/esj003. PMID 16394256.
- Cardani R, Mancinelli E, Rotondo G; et al. (2007). "Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2". European journal of histochemistry : EJH. 50 (3): 177–82. PMID 16920640.
- Paul S, Dansithong W, Kim D; et al. (2006). "Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing". EMBO J. 25 (18): 4271–83. doi:10.1038/sj.emboj.7601296. PMID 16946708.
- Smith KP, Byron M, Johnson C; et al. (2007). "Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains". J. Cell Biol. 178 (6): 951–64. doi:10.1083/jcb.200706048. PMID 17846170.
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