MBNL3

Muscleblind-like protein 3 is a protein that in humans is encoded by the MBNL3 gene.[5][6][7]

MBNL3
Identifiers
Aliases	MBNL3, CHCR, MBLX, MBLX39, MBXL, muscleblind like splicing regulator 3
External IDs	OMIM: 300413 MGI: 2444912 HomoloGene: 23101 GeneCards: MBNL3
Gene location (Human) Chr. X chromosome (human)[1] Band Xq26.2 Start 132,369,317 bp[1] End 132,489,968 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A5 Start 51,117,269 bp[2] End 51,206,532 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • metal ion binding • RNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cytoplasm • cell nucleus • nucleoplasm Biological process • multicellular organism development • regulation of RNA splicing • mRNA processing • negative regulation of myoblast differentiation • RNA splicing • regulation of alternative mRNA splicing, via spliceosome • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55796	171170
Ensembl	ENSG00000076770	ENSMUSG00000036109
UniProt	Q9NUK0	Q8R003
RefSeq (mRNA)	NM_001170701 NM_001170702 NM_001170703 NM_001170704 NM_018388 NM_133486	NM_134163 NM_001310515
RefSeq (protein)	NP_001164172 NP_001164173 NP_001164174 NP_001164175 NP_060858 NP_597846	NP_001297444 NP_598924
Location (UCSC)	Chr X: 132.37 – 132.49 Mb	Chr X: 51.12 – 51.21 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000076770 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036109 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Squillace RM, Chenault DM, Wang EH (Sep 2002). "Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR". Dev Biol. 250 (1): 218–30. doi:10.1006/dbio.2002.0798. PMID 12297108.
6. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (Oct 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. PMC 302046. PMID 10970838.
7. "Entrez Gene: MBNL3 muscleblind-like 3 (Drosophila)".

Further reading

• 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. doi:10.1093/hmg/11.7.805. 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. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• 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. PMC 514918. PMID 15257297.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Self JE, Ennis S, Collins A, et al. (2006). "Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3". Mol. Vis. 12: 1211–6. PMID 17102799.