MBNL1

From Wikipedia, the free encyclopedia

Muscleblind-like (Drosophila)

Identifiers

MBNL1; DKFZp686P06174; EXP; EXP35; EXP40; EXP42; KIAA0428; MBNL

External IDs

OMIM: 606516 MGI: 1928482 HomoloGene: 23186

Gene ontology
Molecular Function:	• nucleic acid binding • double-stranded RNA binding • zinc ion binding • metal ion binding
Cellular Component:	• nucleus • cytoplasm
Biological Process:	• in utero embryonic development • mRNA splice site selection • nervous system development • muscle development • embryonic limb morphogenesis • myoblast differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_021038 (mRNA)
NP_066368 (protein)

XM_977465 (mRNA)
XP_982559 (protein)

Location

Chr 3: 153.47 - 153.67 Mb

Chr 3: 60.59 - 60.72 Mb

Pubmed search

[1]

[2]

Muscleblind-like (Drosophila), also known as MBNL1, is a human gene.^[1]

[edit] References

^ Entrez Gene: MBNL1 muscleblind-like (Drosophila).

[edit] 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.