FIGURE: 1 / 5
Immunogen sequence: RKLFIGMISK KCTENDIRVM FSSFGQIEEC RILRGPDGLS RGCAFVTFTT RAMAQTAIKA MHQAQTMEGC SSPMVVKFAD TQKDKEQKRM AQQLQQQMQQ ISAASVWGNL AGLNTLGPQY LALLQQTASS GNLNTLSSLH PMGGLNAMQL QNLAALAAAA SAAQNTPSGT NALTTSSSPL SVLTSSAGSS PSSSSSNSVN PIASLGALQT LAGATAGLNV GSLAGMAALN GGLGSSGLSN GTGSTMEALT QAYSGIQQYA AAALPTLYNQ NLLTQQSIGA AGSQKEGPEG ANLFIYHLPQ EFGDQDLLQM FMPFGNVVSA KVFIDKQTNL SKCFGFVSYD NPVSAQAAIQ SMNGFQIGMK RLKVQLKRSK NDSKPY; Positive Samples: U-87MG, SH-SY5Y, HepG2, NIH/3T3, HeLa, Mouse liver, Mouse testis; Cellular Location: Cytoplasm, Nucleus
Myotonic dystrophy (MD) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n repeat expansion in the 3'-untranslated region of the myotonin protein kinase (Mt-PK) gene. A (CUG) n oligonucleotides triplet repeat pre-mRNA/mRNA binding protein may play an important role in DM pathogenesis. HeLa cell protein, CUG-BP1, has been purified based upon its ability to bind specifically to (CUG) 8 oligonucleotides in vitro. CUG-BP1 is the major (CUG) 8 binding activity in normal cells. CUG-BP1 has been identified as isoforms of a novel heterogeneous nuclear ribonucleoprotein (hnRNP), hNab50. The CUG-BP/hNab50 protein is localized predominantly in the nucleus and is associated with polyadenylated RNAs in vivo. In vitro RNA-binding/photocrosslinking studies demonstrate that CUG-BP/hNab50 binds to RNAs containing the Mt-PK 3-UTR. The (CUG) n repeat region in Mt-PK mRNA is a binding site for CUG-BP/hNab50 in vivo, and triplet repeat expansion leads to sequestration of this hnRNP on mutant Mt-PK transcripts.
Protein Aliases: 50 kDa nuclear polyadenylated RNA-binding protein; Brain protein F41; bruno-like 2; Bruno-like protein 2; CELF-1; CUG RNA-binding protein; CUG triplet repeat RNA-binding protein 1; CUG triplet repeat, RNA binding protein 1; CUG triplet repeat, RNA-binding protein 1; CUG-BP- and ETR-3-like factor 1; CUG-BP1; CUGBP Ela; CUGBP Elav-like family member 1; Deadenylation factor CUG-BP; Deadenylation factor EDEN-BP; EDEN-BP homolog; embryo deadenylation element binding protein; Embryo deadenylation element-binding protein homolog; nuclear polyadenylated RNA-binding protein, 50-kD; RNA-binding protein BRUNOL-2; RP23-147D3.7
Gene Aliases: 1600010O03Rik; AA407467; BRUNOL2; CELF1; CUG-BP; CUG-BP1; CUGBP; CUGBP1; D2Wsu101e; EDEN-BP; HNAB50; NAB50; NAPOR