CUGBP1

From Wikipedia, the free encyclopedia

CUG triplet repeat, RNA binding protein 1

PDB rendering based on 2cpz.

Available structures: 2cpz, 2dhs

Identifiers

Symbol(s)

CUGBP1; BRUNOL2; CUG-BP; CUGBP; NAB50; hNab50

External IDs

OMIM: 601074 MGI: 1342295 HomoloGene: 23002

Gene ontology
Molecular Function:	• nucleotide binding • translation repressor activity, nucleic acid binding • BRE binding
Cellular Component:	• soluble fraction • nucleus • ribonucleoprotein complex
Biological Process:	• mRNA splice site selection • mRNA processing • germ cell development • embryonic development • RNA interference

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001025596 (mRNA)
NP_001020767 (protein)

NM_017368 (mRNA)
NP_059064 (protein)

Location

Chr 11: 47.45 - 47.53 Mb

Chr 2: 90.74 - 90.82 Mb

Pubmed search

[1]

[2]

CUG triplet repeat, RNA binding protein 1, also known as CUGBP1, is a human gene.^[1]

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms.^[1]

[edit] References

^ ^a ^b Entrez Gene: CUGBP1 CUG triplet repeat, RNA binding protein 1.

[edit] Further reading

Timchenko LT, Timchenko NA, Caskey CT, Roberts R (1996). "Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy.". Hum. Mol. Genet. 5 (1): 115–21. PMID 8789448.
Bhagwati S, Ghatpande A, Leung B (1996). "Identification of two nuclear proteins which bind to RNA CUG repeats: significance for myotonic dystrophy.". Biochem. Biophys. Res. Commun. 228 (1): 55–62. doi:10.1006/bbrc.1996.1615. PMID 8912635.
Timchenko LT, Miller JW, Timchenko NA, et al. (1997). "Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.". Nucleic Acids Res. 24 (22): 4407–14. PMID 8948631.
Roberts R, Timchenko NA, Miller JW, et al. (1998). "Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice.". Proc. Natl. Acad. Sci. U.S.A. 94 (24): 13221–6. PMID 9371827.
Michalowski S, Miller JW, Urbinati CR, et al. (1999). "Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein.". Nucleic Acids Res. 27 (17): 3534–42. PMID 10446244.
Timchenko NA, Welm AL, Lu X, Timchenko LT (1999). "CUG repeat binding protein (CUGBP1) interacts with the 5' region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms.". Nucleic Acids Res. 27 (22): 4517–25. PMID 10536163.
Good PJ, Chen Q, Warner SJ, Herring DC (2000). "A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator.". J. Biol. Chem. 275 (37): 28583–92. doi:10.1074/jbc.M003083200. PMID 10893231.
Timchenko NA, Cai ZJ, Welm AL, et al. (2001). "RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1.". J. Biol. Chem. 276 (11): 7820–6. doi:10.1074/jbc.M005960200. PMID 11124939.
Ladd AN, Charlet N, Cooper TA (2001). "The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing.". Mol. Cell. Biol. 21 (4): 1285–96. doi:10.1128/MCB.21.4.1285-1296.2001. PMID 11158314.
Timchenko NA, Iakova P, Cai ZJ, et al. (2001). "Molecular basis for impaired muscle differentiation in myotonic dystrophy.". Mol. Cell. Biol. 21 (20): 6927–38. doi:10.1128/MCB.21.20.6927-6938.2001. PMID 11564876.
Takahashi N, Sasagawa N, Usuki F, et al. (2002). "Coexpression of the CUG-binding protein reduces DM protein kinase expression in COS cells.". J. Biochem. 130 (5): 581–7. PMID 11686919.
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. PMID 12477932.
Paillard L, Legagneux V, Beverley Osborne H (2004). "A functional deadenylation assay identifies human CUG-BP as a deadenylation factor.". Biol. Cell 95 (2): 107–13. PMID 12799066.
Ebralidze A, Wang Y, Petkova V, et al. (2004). "RNA leaching of transcription factors disrupts transcription in myotonic dystrophy.". Science 303 (5656): 383–7. doi:10.1126/science.1088679. PMID 14657503.
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.
Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance.". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMID 14759258.
Baldwin BR, Timchenko NA, Zahnow CA (2004). "Epidermal growth factor receptor stimulation activates the RNA binding protein CUG-BP1 and increases expression of C/EBPbeta-LIP in mammary epithelial cells.". Mol. Cell. Biol. 24 (9): 3682–91. PMID 15082764.
Watanabe T, Takagi A, Sasagawa N, et al. (2004). "Altered expression of CUG binding protein 1 mRNA in myotonic dystrophy 1: possible RNA-RNA interaction.". Neurosci. Res. 49 (1): 47–54. doi:10.1016/j.neures.2004.01.008. PMID 15099703.
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. PMID 15489334.
Dansithong W, Paul S, Comai L, Reddy S (2005). "MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1.". J. Biol. Chem. 280 (7): 5773–80. doi:10.1074/jbc.M410781200. PMID 15546872.