CELF1


Description

The CELF1 (CUGBP Elav-like family member 1) is a protein-coding gene located on chromosome 11.

CELF1 (CUGBP Elav-like family member 1) is a protein that in humans is encoded by the CELF1 gene. It is also known as 50 kDa nuclear polyadenylated RNA-binding protein, Bruno-like protein 2, CUG triplet repeat RNA-binding protein 1, CUG-BP- and ETR-3-like factor 1, Deadenylation factor CUG-BP, Embryo deadenylation element-binding protein homolog, RNA-binding protein BRUNOL-2. CELF1 is an RNA-binding protein that is involved in the regulation of several post-transcriptional events, including pre-mRNA alternative splicing, mRNA translation, and stability. It has been shown to mediate exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. CELF1 is also involved in the regulation of mRNA deadenylation and the biogenesis of microRNAs.

CELF1, also known as CUGBP1, is an RNA-binding protein that regulates various post-transcriptional processes, including pre-mRNA alternative splicing, mRNA translation, and stability. It plays a role in tissue-specific and developmental regulation of alternative splicing, influencing the inclusion or exclusion of specific exons in pre-mRNAs. For example, CELF1 promotes inclusion of exon 5 in cardiac isoforms of TNNT2 during heart development. It can act as both an activator and a repressor, influencing the inclusion of smooth muscle (SM) exons and exclusion of non-muscle (NM) exons in actinin pre-mRNAs. It also promotes exclusion of exon 11 from INSR pre-mRNA, inhibiting insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblasts. CELF1 increases translation of CEBPB and CDKN1A mRNAs by antagonizing the repressive effects of CALR3 and other factors. It mediates rapid cytoplasmic mRNA deadenylation by recruiting the deadenylase PARN to EDEN-containing mRNAs. Furthermore, CELF1 is essential for the completion of spermatogenesis. It binds to (CUG)n triplet repeats in the 3'-UTR of transcripts, Bruno response elements (BREs), muscle-specific splicing enhancers (MSEs), AU-rich sequences (AREs or EDEN-like), and the IR RNA. CELF1 also binds to the 5'-region of CDKN1A and CEBPB mRNAs and may regulate miRNA biogenesis by binding to primary microRNA pri-MIR140 and negatively regulating its processing to mature miRNA. It is part of an EIF2 complex and associates with polysomes. CELF1 interacts with HNRNPH1 in an RNA-dependent manner and with PARN.

CELF1 is also known as BRUNOL2, CUG-BP, CUGBP, CUGBP1, EDEN-BP, NAB50, NAPOR, hNab50.

Associated Diseases



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