MBNL3

Muscleblind-like protein 3 is a protein that in humans is encoded by the MBNL3 gene.

MBNL3
Identifiers
Aliases	MBNL3, CHCR, MBLX, MBLX39, MBXL, muscleblind like splicing regulator 3
External IDs	OMIM: 300413; MGI: 2444912; HomoloGene: 23101; GeneCards: MBNL3; OMA:MBNL3 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq26.2 Start 132,369,317 bp End 132,489,968 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X A5 Start 50,206,146 bp End 50,295,409 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 50.21 – 50.3 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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. 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.