MBNL1

Muscleblind-like splicing regulator 1
Rendering based on PDB 3D2N​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3D2N​, 3D2Q​, 3D2S​
Identifiers
Symbols	MBNL1 ; EXP; EXP35; EXP40; EXP42; MBNL
External IDs	OMIM: 606516 MGI: 1928482 HomoloGene: 23186 ChEMBL: 1293317 GeneCards: MBNL1 Gene
Gene ontology Molecular function • RNA binding • double-stranded RNA binding • protein binding • poly(A) RNA binding • metal ion binding Cellular component • nucleus • nucleoplasm • cytoplasm • centrosome • cytoplasmic stress granule Biological process • regulation of alternative mRNA splicing, via spliceosome • in utero embryonic development • mRNA splice site selection • nervous system development • skeletal muscle tissue development • RNA splicing • embryonic limb morphogenesis • regulation of RNA splicing • myoblast differentiation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4154	56758
Ensembl	ENSG00000152601	ENSMUSG00000027763
UniProt	Q9NR56	Q9JKP5
RefSeq (mRNA)	NM_021038	NM_001253708
RefSeq (protein)	NP_066368	NP_001240637
Location (UCSC)	Chr 3: 152.24 – 152.47 Mb	Chr 3: 60.47 – 60.63 Mb
PubMed search

Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene.^[1][2][3] It has been implicated in Myotonic dystrophy and has been shown to autoregulate its transcript.^[4]

References

1. Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Oct 1997). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Research 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477.
2. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (Sep 2000). "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy". The EMBO Journal 19 (17): 4439–48. doi:10.1093/emboj/19.17.4439. PMC 302046. PMID 10970838.
3. "Entrez Gene: MBNL1 muscleblind-like (Drosophila)".
4. Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA (Aug 2004). "Muscleblind proteins regulate alternative splicing". The EMBO Journal 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918. PMID 15257297.

Further reading

• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Fardaei M, Larkin K, Brook JD, Hamshere MG (Jul 2001). "In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts". Nucleic Acids Research 29 (13): 2766–71. doi:10.1093/nar/29.13.2766. PMC 55763. PMID 11433021.
• Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA (Sep 2001). "Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2". Human Molecular Genetics 10 (19): 2165–70. doi:10.1093/hmg/10.19.2165. PMID 11590133.
• Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (Apr 2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Human Molecular Genetics 11 (7): 805–14. doi:10.1093/hmg/11.7.805. PMID 11929853.
• Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S (Mar 2004). "Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats". Human Molecular Genetics 13 (5): 495–507. doi:10.1093/hmg/ddh056. PMID 14722159.
• Dansithong W, Paul S, Comai L, Reddy S (Feb 2005). "MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1". The Journal of Biological Chemistry 280 (7): 5773–80. doi:10.1074/jbc.M410781200. PMID 15546872.
• Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA (Jul 2005). "Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy". Journal of Cell Science 118 (Pt 13): 2923–33. doi:10.1242/jcs.02404. PMID 15961406.
• Adereth Y, Dammai V, Kose N, Li R, Hsu T (Dec 2005). "RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1". Nature Cell Biology 7 (12): 1240–7. doi:10.1038/ncb1335. PMC 2365307. PMID 16273094.
• Monferrer L, Artero R (2006). "An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses". The Journal of Heredity 97 (1): 67–73. doi:10.1093/jhered/esj003. PMID 16394256.
• Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G (2007). "Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2". European Journal of Histochemistry 50 (3): 177–82. PMID 16920640.
• Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L, Reddy S (Sep 2006). "Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing". The EMBO Journal 25 (18): 4271–83. doi:10.1038/sj.emboj.7601296. PMC 1570429. PMID 16946708.
• Smith KP, Byron M, Johnson C, Xing Y, Lawrence JB (Sep 2007). "Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains". The Journal of Cell Biology 178 (6): 951–64. doi:10.1083/jcb.200706048. PMC 2064620. PMID 17846170.