MBNL3

MBNL3
Identifiers
Aliases	MBNL3, CHCR, MBLX, MBLX39, MBXL, muscleblind like splicing regulator 3
External IDs	OMIM: 300413; MGI: 2444912; GeneCards: MBNL3
Gene location (Human)
Chr.	X chromosome (human)
End	132,489,968 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	50,295,409 bp
RNA expression pattern
	Top expressed in
	tail of epididymis; ; germinal epithelium; ; corpus epididymis; ; trabecular bone; ; placenta; ; gingival epithelium; ; caput epididymis; ; seminal vesicula; ; mucosa of sigmoid colon; ; parietal pleura;
	Top expressed in
	umbilical cord; ; transitional epithelium of urinary bladder; ; left lung lobe; ; gastrula; ; conjunctival fornix; ; lacrimal gland; ; decidua; ; abdominal wall; ; ureter; ; dermis;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; metal ion binding; RNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; 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 by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	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

1 2 3 GRCh38: Ensembl release 89: ENSG00000076770 – Ensembl, May 2017
1 2 3 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.434..325R. 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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000076770 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12297108-5] 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.

[pmid10970838-6] 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.

[entrez-7] "Entrez Gene: MBNL3 muscleblind-like 3 (Drosophila)".

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MBNL3

References

Further reading