MBNL3

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]
End	132,489,968 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[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
	55796
	171170
	ENSG00000076770
	ENSMUSG00000036109
	Q9NUK0
	Q8R003
NM_001170701; NM_001170702; NM_001170703; NM_001170704; NM_018388;
	NM_133486
	NM_134163; NM_001310515
NP_001164172; NP_001164173; NP_001164174; NP_001164175; NP_060858;
	NP_597846
	NP_001297444; NP_598924
	Wikidata
View/Edit Human	View/Edit Mouse

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

References

GRCh38: Ensembl release 89: ENSG00000076770 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000036109 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: MBNL3 muscleblind-like 3 (Drosophila)".

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.

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