MBNL1

MBNL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3D2N, 3D2Q, 3D2S
Identifiers
Aliases	MBNL1, EXP, EXP35, EXP40, EXP42, MBNL, muscleblind like splicing regulator 1
External IDs	MGI: 1928482 HomoloGene: 23186 GeneCards: MBNL1
Gene ontology Molecular function • regulatory region RNA binding • double-stranded RNA binding • poly(A) RNA binding • protein binding • metal ion binding • RNA binding Cellular component • cytoplasm • centrosome • cytoplasmic stress granule • nucleus • nucleoplasm Biological process • mRNA processing • regulation of RNA splicing • myoblast differentiation • in utero embryonic development • embryonic limb morphogenesis • RNA splicing • nervous system development Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4154	56758
Ensembl	ENSG00000152601	ENSMUSG00000027763
UniProt	Q9NR56 Q86VM6	Q9JKP5
RefSeq (mRNA)	NM_001314057 NM_021038 NM_207292 NM_207293 NM_207294 NM_207295 NM_207296 NM_207297	NM_001253708 NM_001253709 NM_001253710 NM_001253711 NM_001253713 NM_020007 NM_001310514
RefSeq (protein)	NP_001300986.1 NP_066368.2 NP_997175.1 NP_997176.1 NP_997177.1 NP_997178.1 NP_997179.1 NP_997180.1 NP_001300986.1 NP_997178.1 NP_997179.1 NP_997180.1	NP_001240637.1
Location (UCSC)	Chr 3: 152.24 – 152.47 Mb	Chr 3: 60.47 – 60.63 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene.^[3][4][5] It has been implicated in Myotonic dystrophy and has been shown to autoregulate its transcript.^[6]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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.
5. "Entrez Gene: MBNL1 muscleblind-like (Drosophila)".
6. 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.