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FLASH GENE
Symbol CELF1 contributors: mct/pgu - updated : 07-02-2018
HGNC name CUGBP, Elav-like family member 1
HGNC id 2549
Location 11p11.2      Physical location : 47.487.490 - 47.574.792
Synonym name
  • bruno-like 2
  • RNA binding protein (Drosophila)
  • CUG-BP1 and ETR3 like factors) 1
  • CUG triplet repeat, RNA binding protein 1
  • nuclear polyadenylated RNA-binding protein, 50 kDa
  • deadenylation factor CUG-BP
  • embryo deadenylation element-binding protein homolog
  • EDEN-BP homolog
  • CUGBP and embryonic lethal abnormal vision-like factor
  • Synonym symbol(s) CUGBP, NAB50, BRUNOL2, CUG-BP, CUGBP1, NAPOR, EDEN-BP
    DNA
    TYPE functioning gene
    STRUCTURE 87.30 kb     16 Exon(s)
    regulatory sequence Promoter
    text structure
  • a short region of the promoter with three E-box elements, responsible for the regulation of the isoform 3, and within this region three different transcription start sites
  • this promoter region exhibits high activity in myoblasts and the activity of this region is significantly increased in myotubes, and regulated by myogenin (binding of myogenin to the promoter correlates with activation of the promoter during differentiation)
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 4711 52.1 482 - 2009 19553194
    also called LYLQ
    14 splicing 4656 51.5 483 - 2009 19553194
    13 splicing 4474 51.6 486 in myotubes, myoblasts and skeletal muscle 2009 19553194
    presence of three E-box elements in the promoter
    13 - 7682 - 485 - 2009 19553194
    16 - 7434 - 512 - 2009 19553194
    16 - 8115 - 514 - 2009 19553194
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveliver   highly Homo sapiens
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
    Reproductivefemale systemuterus  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiacmyocardium  Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three RNA recognition motifs (RRM)
  • a linker domain located between the second and third RNA recognition motifs (RRMs) was found to be essential for the recruitment of CELF1 to stress granules
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Cugbp1
    homolog to Drosophila aret
    homolog to C.elegans etr-1
    intraspecies homolog to CUGBP2
    Homologene
    FAMILY
  • CELF/Bruno-like family of RNA-binding proteins
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus,nucleoplasm
    text actively shuttles between the nucleus and Stress granules
    basic FUNCTION
  • RNA-binding protein that has been implicated in the control of splicing, translation and mRNA degradation
  • playing a critical role in the development of skeletal muscle pathology in patients with Myotonic Dystrophy 1 (DM1)
  • up-regulating p21 during differentiation of skeletal muscle
  • multifunctional, and regulating many posttranscriptional processes including alternative splicing, deadenylation, mRNA decay, and translation
  • implicated in two major post-transcriptional regulatory processes, namely the alternative splicing and the control of translation and stability of target mRNAs
  • involved in the decay of TNF mRNA, and may be an important regulator of decay of a large number of transcripts containing UG-rich elements in their 3'-UTRs
  • mediator of GU-rich element-dependent mRNA decay
  • a multi-faceted factor, involved in a wide range of biological processes including splicing, translation initiation and mRNA degradation
  • with SFRS1, SFRS3, act antagonistically to regulate insulin receptor alternative splicing and the relative ratios of SFRS1, SFRS3 to CUGBP1 in different cells determine the degree of exon inclusion
  • having a determinative role for a large subset of splicing transitions that occur during postnatal heart development
  • role for CELF1 up-regulation in DM1 pathogenesis, and major role in DM1 cardiac pathogenesis
  • RNA binding protein that regulate alternative splicing transitions during development
  • directly controls CD9 expression
  • coordinately regulates the mRNA decay of a network of transcripts involved in cell growth, cell motility, and apoptosis
  • with its target transcripts define a post-transcriptional regulatory network that functions to control cellular growth and homeostasis, and disruptions in this network may play a role in the development of cancer
  • CELF proteins are involved in switching splicing from TPM2 exon 6A towards exon 6B inclusion during myogenic differentiation
  • regulates gene expression at the levels of alternative splicing, mRNA degradation, and translation
  • coordinates networks of transcripts crucial for primary human T cell activation
  • CELF1 and MBNL1 regulate alternative splicing
  • regulates translation of proteins which are critical for maintenance of liver functions
  • possible role of CELF1 in liver dysfunction in patients affected with DM1
  • it plays a role in post-transcriptional control of albumin expression
  • CELF1 and ELAVL1 jointly regulate the translation of occludin and play a crucial role in the maintenance of tight junction (TJ) integrity in the intestinal epithelial cell monolayer
  • CELF1 and CELF2 may underlie conserved, developmentally regulated, tissue-specific processes in vertebrate embryos
  • is essential for the growth of hepatocellular carcinoma cells
  • CELF1 plays a distinctive and negative role in terminal myocyte differentiation, which partially contribute to DM1 RNA toxicity
  • highly conserved RNA binding protein that regulates pre-mRNA alternative splicing, polyadenylation, mRNA stability, and translation
  • is a key regulator of cardiomyocyte gene expression
  • CELF1 is a critical regulator of insulin secretion via activating PDE3B
  • regulates hepatic stellate cells (HSCs) activation and liver fibrogenesis
  • CELF1 mediates GJA1 mRNA degradation in dilated cardiomyopathy
  • is a multifunctional protein which displays three major functions: regulation of splicing, regulation of translation, and regulation of stability of mRNAs
  • CELF1 and DEK were found to represent early-induced melanoma genes and adverse indicators of overall patient survival
  • CELLULAR PROCESS nucleotide, RNA splicing
    protein, translation regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • constituent of stress granule (SG), the translational silencing machinery assembled in response to environmental stress
  • INTERACTION
    DNA
    RNA
  • binding to (CUG)n repeat and to Brunol response elements
  • RRM3 motif can bind to the target RNAs by its own
  • small molecule
  • RNA-binding protein, CELF1, binds to a regulatory sequence known as the GU-rich element (GRE) and controls a network of mRNA transcripts that regulate cellular activation, proliferation, and apoptosis
  • protein
  • interacting with DMPK, and binding the CUG-repeat sequences of the myotonin protein kinase
  • specifically interacts with GRE and modulates GRE-dependent decay of target mRNA transcripts
  • interacting with PTB proteins (PTBP1, PTBP2) (CELF1 and PTB proteins modulate the inclusion of TPM2 exon 6B during myogenic differentiation)
  • cytosolic form of CELF1 binds efficiently to the CDKN1B 5prime-untranslated region
  • CELF1-binding to certain GU-rich elements (GREs)-containing target transcripts decreased following T cell activation through activation-dependent phosphorylation of CELF1
  • binds to RNA CUG repeats expanded in Myotonic Dystrophy type 1 (DM1)
  • CELF1, a known RNA binding protein, binds to the ALB 3&
  • 8242;UTR
  • represses occludin translation by increasing occludin mRNA recruitment to P-bodies
  • CELF1 regulates likely Alternative polyadenylation (APA) site selection following T cell activation through reversible binding to nearby GRE sequences
  • CELF1 is both a tumor suppressor and target of PSMD10-mediated degradation when unphosphorylated at Ser302
  • PSMD10-mediated reduction of CELF1 is critical for the development of hepatoblastoma (HBL)
  • interaction of CELF1 and EXOSC10 was RNA-independent and nucleus specific
  • EXOSC10 was likely required for CELF1-mediated GJA1 mRNA degradation
  • DEK is an unexpected target and downstream effector of CELF1
  • cell & other
    REGULATION
    activated by expanded repeats in myotonic dystrophy with trans-dominant effects on specific pre-mRNA targets
    Other regulated by DMPK, via phosphorylation
    transcription in muscle is regulated by myogenin and E proteins
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    and hyperphosphorylation in the nucleus is a key factor in development of DM1
    constitutional     --over  
    increased in DM1 myoblasts, heart, and skeletal muscle tissues
    tumoral     --low  
    in patients with pediatric liver cancer
    constitutional       loss of function
    altered function of CELF1 in myotonic dystrophy may contribute to changes in the extracellular matrix of affected muscle through defects in secretion
    constitutional     --other  
    aberrant up-regulation of CELF1 in the adult heart has been implicated in cardiac pathogenesis in myotonic dystrophy type 1, as well as in diabetic cardiomyopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    targeting CELF11 may be a valid strategy in correcting DM1 muscle phenotypes, especially for congenital cases
    ANIMAL & CELL MODELS
  • up-regulation of CUGBP1 is sufficient to reproduce molecular, histopathological and functional changes observed in a previously described DM1 mouse model that expresses expanded CUG RNA repeats as well as in individuals with DM1
  • inhibition of Celf activity or over-expression of CELF1 in heart muscle causes cardiomyopathy in transgenic mice