MBNL1: Difference between revisions

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Latest revision as of 14:10, 9 June 2018

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

↑ 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.
↑ 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.
↑ "Entrez Gene: MBNL1 muscleblind-like (Drosophila)".
↑ 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.

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" (PDF). 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. CiteSeerX 10.1.1.598.7921. 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. CiteSeerX 10.1.1.673.6397. 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.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[pmid9455477-1] 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.

[pmid10970838-2] 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.

[entrez-3] "Entrez Gene: MBNL1 muscleblind-like (Drosophila)".

[pmid15257297-4] 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.

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[2]

[3]

[4]

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-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Muscleblind-like (Drosophila)''', also known as '''MBNL1''', is a [[protein]] that in humans is encoded by the ''MBNL1'' [[gene]].<ref name="pmid9455477">{{cite journal | vauthors = Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 4 | issue = 5 | pages = 307–13 | date = Oct 1997 | pmid = 9455477 | doi = 10.1093/dnares/4.5.307 }}</ref><ref name="pmid10970838">{{cite journal | vauthors = Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS | title = Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy | journal = The EMBO Journal | volume = 19 | issue = 17 | pages = 4439–48 | date = Sep 2000 | pmid = 10970838 | pmc = 302046 | doi = 10.1093/emboj/19.17.4439 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MBNL1 muscleblind-like (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4154| accessdate = }}</ref> It has been implicated in [[Myotonic dystrophy]] and has been shown to autoregulate its transcript.<ref name="pmid15257297">{{cite journal | vauthors = Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA | title = Muscleblind proteins regulate alternative splicing | journal = The EMBO Journal | volume = 23 | issue = 15 | pages = 3103–12 | date = Aug 2004 | pmid = 15257297 | pmc = 514918 | doi = 10.1038/sj.emboj.7600300 }}</ref>
-| update_page = yes
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-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== References ==
-{{GNF_Protein_box
+{{reflist}}
- | image =
- | image_source =
- | PDB =
- | Name = Muscleblind-like (Drosophila)
- | HGNCid = 6923
- | Symbol = MBNL1
- | AltSymbols =; DKFZp686P06174; EXP; EXP35; EXP40; EXP42; KIAA0428; MBNL
- | OMIM = 606516
- | ECnumber =
- | Homologene = 23186
- | MGIid = 1928482
- | GeneAtlas_image1 = PBB_GE_MBNL1_201153_s_at_tn.png
- | GeneAtlas_image2 = PBB_GE_MBNL1_201151_s_at_tn.png
- | GeneAtlas_image3 = PBB_GE_MBNL1_201152_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0003725 |text = double-stranded RNA binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
- | Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
- | Process = {{GNF_GO|id=GO:0001701 |text = in utero embryonic development}} {{GNF_GO|id=GO:0006376 |text = mRNA splice site selection}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0007517 |text = muscle development}} {{GNF_GO|id=GO:0030326 |text = embryonic limb morphogenesis}} {{GNF_GO|id=GO:0045445 |text = myoblast differentiation}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 4154
-    | Hs_Ensembl = ENSG00000152601
-    | Hs_RefseqProtein = NP_066368
-    | Hs_RefseqmRNA = NM_021038
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 3
-    | Hs_GenLoc_start = 153468519
-    | Hs_GenLoc_end = 153666258
-    | Hs_Uniprot = Q9NR56
-    | Mm_EntrezGene = 56758
-    | Mm_Ensembl = ENSMUSG00000027763
-    | Mm_RefseqmRNA = XM_977465
-    | Mm_RefseqProtein = XP_982559
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 3
-    | Mm_GenLoc_start = 60589181
-    | Mm_GenLoc_end = 60717679
-    | Mm_Uniprot = Q8CAQ1
-  }}
-}}
-'''Muscleblind-like (Drosophila)''', also known as '''MBNL1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MBNL1 muscleblind-like (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4154| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Further reading ==
-{{PBB_Summary
-| section_title =
-| summary_text =
-}}
-==References==
-{{reflist|2}}
-==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
-| citations =
+* {{cite journal | vauthors = Fardaei M, Larkin K, Brook JD, Hamshere MG | title = In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts | journal = Nucleic Acids Research | volume = 29 | issue = 13 | pages = 2766–71 | date = Jul 2001 | pmid = 11433021 | pmc = 55763 | doi = 10.1093/nar/29.13.2766 }}
-*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
+* {{cite journal | vauthors = Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA | title = Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 | journal = Human Molecular Genetics | volume = 10 | issue = 19 | pages = 2165–70 | date = Sep 2001 | pmid = 11590133 | doi = 10.1093/hmg/10.19.2165 | url = https://air.unimi.it/bitstream/2434/212057/1/HUM%20MOL%20GENET%20-2001-Mankodi%20A.pdf }}
-*{{cite journal  | author=Ishikawa K, Nagase T, Nakajima D, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=4 |issue= 5 |pages= 307-13 |year= 1998 |pmid= 9455477 |doi=  }}
+* {{cite journal | vauthors = Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD | title = Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells | journal = Human Molecular Genetics | volume = 11 | issue = 7 | pages = 805–14 | date = Apr 2002 | pmid = 11929853 | doi = 10.1093/hmg/11.7.805 }}
-*{{cite journal  | author=Miller JW, Urbinati CR, Teng-Umnuay P, ''et al.'' |title=Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. |journal=EMBO J. |volume=19 |issue= 17 |pages= 4439-48 |year= 2000 |pmid= 10970838 |doi= 10.1093/emboj/19.17.4439 }}
+* {{cite journal | vauthors = Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S | title = Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats | journal = Human Molecular Genetics | volume = 13 | issue = 5 | pages = 495–507 | date = Mar 2004 | pmid = 14722159 | doi = 10.1093/hmg/ddh056 | citeseerx = 10.1.1.598.7921 }}
-*{{cite journal  | author=Fardaei M, Larkin K, Brook JD, Hamshere MG |title=In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. |journal=Nucleic Acids Res. |volume=29 |issue= 13 |pages= 2766-71 |year= 2001 |pmid= 11433021 |doi=  }}
+* {{cite journal | vauthors = Dansithong W, Paul S, Comai L, Reddy S | title = MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 | journal = The Journal of Biological Chemistry | volume = 280 | issue = 7 | pages = 5773–80 | date = Feb 2005 | pmid = 15546872 | doi = 10.1074/jbc.M410781200 }}
-*{{cite journal  | author=Mankodi A, Urbinati CR, Yuan QP, ''et al.'' |title=Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. |journal=Hum. Mol. Genet. |volume=10 |issue= 19 |pages= 2165-70 |year= 2001 |pmid= 11590133 |doi=  }}
+* {{cite journal | vauthors = Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA | title = Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy | journal = Journal of Cell Science | volume = 118 | issue = Pt 13 | pages = 2923–33 | date = Jul 2005 | pmid = 15961406 | doi = 10.1242/jcs.02404 }}
-*{{cite journal  | author=Fardaei M, Rogers MT, Thorpe HM, ''et al.'' |title=Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. |journal=Hum. Mol. Genet. |volume=11 |issue= 7 |pages= 805-14 |year= 2002 |pmid= 11929853 |doi=  }}
+* {{cite journal | vauthors = Adereth Y, Dammai V, Kose N, Li R, Hsu T | title = RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1 | journal = Nature Cell Biology | volume = 7 | issue = 12 | pages = 1240–7 | date = Dec 2005 | pmid = 16273094 | pmc = 2365307 | doi = 10.1038/ncb1335 }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+* {{cite journal | vauthors = Monferrer L, Artero R | title = An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses | journal = The Journal of Heredity | volume = 97 | issue = 1 | pages = 67–73 | year = 2006 | pmid = 16394256 | doi = 10.1093/jhered/esj003 }}
-*{{cite journal  | author=Kino Y, Mori D, Oma Y, ''et al.'' |title=Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. |journal=Hum. Mol. Genet. |volume=13 |issue= 5 |pages= 495-507 |year= 2004 |pmid= 14722159 |doi= 10.1093/hmg/ddh056 }}
+* {{cite journal | vauthors = Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G | title = Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2 | journal = European Journal of Histochemistry | volume = 50 | issue = 3 | pages = 177–82 | year = 2007 | pmid = 16920640 | doi =  }}
-*{{cite journal  | author=Ho TH, Charlet-B N, Poulos MG, ''et al.'' |title=Muscleblind proteins regulate alternative splicing. |journal=EMBO J. |volume=23 |issue= 15 |pages= 3103-12 |year= 2005 |pmid= 15257297 |doi= 10.1038/sj.emboj.7600300 }}
+* {{cite journal | vauthors = Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L, Reddy S | title = Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing | journal = The EMBO Journal | volume = 25 | issue = 18 | pages = 4271–83 | date = Sep 2006 | pmid = 16946708 | pmc = 1570429 | doi = 10.1038/sj.emboj.7601296 | citeseerx = 10.1.1.673.6397 }}
-*{{cite journal  | author=Dansithong W, Paul S, Comai L, Reddy S |title=MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. |journal=J. Biol. Chem. |volume=280 |issue= 7 |pages= 5773-80 |year= 2005 |pmid= 15546872 |doi= 10.1074/jbc.M410781200 }}
+* {{cite journal | vauthors = Smith KP, Byron M, Johnson C, Xing Y, Lawrence JB | title = Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains | journal = The Journal of Cell Biology | volume = 178 | issue = 6 | pages = 951–64 | date = Sep 2007 | pmid = 17846170 | pmc = 2064620 | doi = 10.1083/jcb.200706048 }}
-*{{cite journal  | author=Ho TH, Savkur RS, Poulos MG, ''et al.'' |title=Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. |journal=J. Cell. Sci. |volume=118 |issue= Pt 13 |pages= 2923-33 |year= 2005 |pmid= 15961406 |doi= 10.1242/jcs.02404 }}
-*{{cite journal  | author=Adereth Y, Dammai V, Kose N, ''et al.'' |title=RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1. |journal=Nat. Cell Biol. |volume=7 |issue= 12 |pages= 1240-7 |year= 2006 |pmid= 16273094 |doi= 10.1038/ncb1335 }}
-*{{cite journal  | author=Monferrer L, Artero R |title=An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses. |journal=J. Hered. |volume=97 |issue= 1 |pages= 67-73 |year= 2006 |pmid= 16394256 |doi= 10.1093/jhered/esj003 }}
-*{{cite journal  | author=Cardani R, Mancinelli E, Rotondo G, ''et al.'' |title=Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. |journal=European journal of histochemistry : EJH |volume=50 |issue= 3 |pages= 177-82 |year= 2007 |pmid= 16920640 |doi=  }}
-*{{cite journal  | author=Paul S, Dansithong W, Kim D, ''et al.'' |title=Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. |journal=EMBO J. |volume=25 |issue= 18 |pages= 4271-83 |year= 2006 |pmid= 16946708 |doi= 10.1038/sj.emboj.7601296 }}
-*{{cite journal  | author=Smith KP, Byron M, Johnson C, ''et al.'' |title=Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains. |journal=J. Cell Biol. |volume=178 |issue= 6 |pages= 951-64 |year= 2007 |pmid= 17846170 |doi= 10.1083/jcb.200706048 }}
-}}
 {{refend}}
-{{protein-stub}}
-{{WikiDoc Sources}}
+{{gene-3-stub}}

MBNL1: Difference between revisions

Latest revision as of 14:10, 9 June 2018

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