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Sequence of this protein is as follows: MNGTLDHPDQ PDLDAIKMFV GQVPRTWSEK DLRELFEQYG AVYEINVLRD RSQNPPQSKG CCFVTFYTRK AALEAQNALH NMKVLPGMHH PIQMKPADSE KNNAVEDRKL FIGMISKKCT ENDIRVMFSS FGQIEECRIL RGPDGLSRGC AFVTFTTRAM AQTAIKAMHQ AQTMEGCSSP MVVKFADTQK DKEQKRMAQQ LQQQMQQISA ASVWGNLAGL NTLGPQYLAL LQQTASSGNL NTLSSLHPMG GLNAMQLQNL AALAAAASAA QNTPSGTNAL TTSSSPLSVL TSSAGSSPSS SSSNSVNPIA SLGALQTLAG ATAGLNVGSL AGMAALNGGL GSSGLSNGTG STMEALTQAY SGIQQYAAAA LPTLYNQNLL TQQSIGAAGS QKEGPEGANL FIYHLPQEFG DQDLLQMFMP FGNVVSAKVF IDKQTNLSKC FGFVSYDNPV SAQAAIQSMN GFQIGMKRLK VQLKRSKNDS KPY
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: 1600010O03Rik; AA407467; BRUNOL2; CELF1; CUG-BP; CUG-BP1; CUGBP; CUGBP1; D2Wsu101e; EDEN-BP; HNAB50; NAB50; NAPOR
UniProt ID: (Human) Q92879, (Mouse) P28659
Entrez Gene ID: (Human) 10658, (Mouse) 13046