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Aliases for CELF1 Gene

Aliases for CELF1 Gene

  • CUGBP, Elav-Like Family Member 1 2 3
  • BRUNOL2 3 4 6
  • CUGBP1 3 4 6
  • CUGBP 3 4 6
  • NAB50 3 4 6
  • Embryo Deadenylation Element-Binding Protein Homolog 3 4
  • 50 KDa Nuclear Polyadenylated RNA-Binding Protein 3 4
  • Embryo Deadenylation Element Binding Protein 2 3
  • CUG Triplet Repeat, RNA-Binding Protein 1 2 3
  • CUG Triplet Repeat, RNA Binding Protein 1 2 3
  • CUG Triplet Repeat RNA-Binding Protein 1 3 4
  • CUG-BP- And ETR-3-Like Factor 1 3 4
  • RNA-Binding Protein BRUNOL-2 3 4
  • Deadenylation Factor CUG-BP 3 4
  • CUG RNA-Binding Protein 2 3
  • Bruno-Like Protein 2 3 4
  • EDEN-BP Homolog 3 4
  • Bruno-Like 2 2 3
  • CUG-BP1 3 4
  • CELF-1 3 4
  • Nuclear Polyadenylated RNA-Binding Protein, 50-KD 3
  • Nuclear Polyadenylated RNA-Binding Protein 2
  • CUGBP Elav-Like Family Member 1 3
  • EDEN-BP 3
  • CUG-BP 3
  • HNab50 3
  • 50-KD 2
  • NAPOR 3

External Ids for CELF1 Gene

Previous HGNC Symbols for CELF1 Gene

  • CUGBP1

Previous GeneCards Identifiers for CELF1 Gene

  • GC11M047489
  • GC11M047187
  • GC11M047602
  • GC11M048078
  • GC11M048801
  • GC11M049904

Summaries for CELF1 Gene

Entrez Gene Summary for CELF1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for CELF1 Gene

CELF1 (CUGBP, Elav-Like Family Member 1) is a Protein Coding gene. Diseases associated with CELF1 include myotonic dystrophy 2 and myotonic dystrophy 1. Among its related pathways are mRNA Splicing - Major Pathway and Adipogenesis. GO annotations related to this gene include RNA binding and mRNA binding. An important paralog of this gene is CELF5.

UniProtKB/Swiss-Prot for CELF1 Gene

  • RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5-region of CDKN1A and CEBPB mRNAs. Binds with the 5-region of CEBPB mRNA in aging liver.

Gene Wiki entry for CELF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELF1 Gene

Genomics for CELF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CELF1 Gene

Start:
47,465,937 bp from pter
End:
47,565,569 bp from pter
Size:
99,633 bases
Orientation:
Minus strand

Genomic View for CELF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CELF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF1 Gene

No data available for Regulatory Elements for CELF1 Gene

Proteins for CELF1 Gene

  • Protein details for CELF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92879-CELF1_HUMAN
    Recommended name:
    CUGBP Elav-like family member 1
    Protein Accession:
    Q92879
    Secondary Accessions:
    • B4E2U5
    • D3DQS0
    • F8W940
    • Q4LE52
    • Q9NP83
    • Q9NR06

    Protein attributes for CELF1 Gene

    Size:
    486 amino acids
    Molecular mass:
    52063 Da
    Quaternary structure:
    • Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5. Associates with polysomes (By similarity). Interacts with HNRNPH1; the interaction in RNA-dependent. Interacts with PARN.
    SequenceCaution:
    • Sequence=BAE06101.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CELF1 Gene

    Alternative splice isoforms for CELF1 Gene

neXtProt entry for CELF1 Gene

Proteomics data for CELF1 Gene at MOPED

Post-translational modifications for CELF1 Gene

  • Phosphorylated. Its phosphorylation status increases in senescent cells.
  • Ubiquitination at Lys59, Lys166, and Lys436
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CELF1 Gene

Domains for CELF1 Gene

Gene Families for CELF1 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for CELF1 Gene

Suggested Antigen Peptide Sequences for CELF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92879

UniProtKB/Swiss-Prot:

CELF1_HUMAN :
  • Q92879
Domain:
  • RRM1 and RRM2 domains preferentially target UGU(U/G)-rich mRNA elements.
  • Contains 3 RRM (RNA recognition motif) domains.
Family:
  • Belongs to the CELF/BRUNOL family.
genes like me logo Genes that share domains with CELF1: view

Function for CELF1 Gene

Molecular function for CELF1 Gene

UniProtKB/Swiss-Prot Function: RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5-region of CDKN1A and CEBPB mRNAs. Binds with the 5-region of CEBPB mRNA in aging liver.
UniProtKB/Swiss-Prot Induction: Up-regulated in myotonic dystrophy pathophysiology (DM).

Gene Ontology (GO) - Molecular Function for CELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000900 translation repressor activity, nucleic acid binding NAS 10893231
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IDA 16946708
GO:0003729 mRNA binding IDA 14726956
genes like me logo Genes that share ontologies with CELF1: view
genes like me logo Genes that share phenotypes with CELF1: view

Animal Model Products

CRISPR Products

miRNA for CELF1 Gene

miRTarBase miRNAs that target CELF1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CELF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CELF1 Gene

Localization for CELF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF1 Gene

Nucleus. Cytoplasm. Note=RNA-binding activity is detected in both nuclear and cytoplasmic compartments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CELF1 Gene COMPARTMENTS Subcellular localization image for CELF1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10893231
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IDA 19946888
GO:0030529 ribonucleoprotein complex NAS 10893231
genes like me logo Genes that share ontologies with CELF1: view

Pathways for CELF1 Gene

SuperPathways for CELF1 Gene

genes like me logo Genes that share pathways with CELF1: view

Pathways by source for CELF1 Gene

2 BioSystems pathways for CELF1 Gene

Gene Ontology (GO) - Biological Process for CELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006376 mRNA splice site selection ISS --
GO:0006397 mRNA processing TAS 8948631
GO:0007281 germ cell development NAS 10893231
GO:0007286 spermatid development IEA --
GO:0009790 embryo development NAS 10893231
genes like me logo Genes that share ontologies with CELF1: view

Compounds for CELF1 Gene

(2) Novoseek inferred chemical compound relationships for CELF1 Gene

Compound -log(P) Hits PubMed IDs
chlordiazepoxide 67.2 12
adenylate 42.3 2
genes like me logo Genes that share compounds with CELF1: view

Transcripts for CELF1 Gene

Unigene Clusters for CELF1 Gene

CUGBP, Elav-like family member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CELF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CELF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f ^ 13 ^ 14 ^
SP1: - - -
SP2: - - - - - - - - - -
SP3: -
SP4:
SP5:
SP6: - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - -
SP13: - - - -
SP14: - -
SP15:
SP16: - - - - - -
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25
SP1: - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20: - -
SP21:

Relevant External Links for CELF1 Gene

GeneLoc Exon Structure for
CELF1
ECgene alternative splicing isoforms for
CELF1

Expression for CELF1 Gene

mRNA expression in normal human tissues for CELF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CELF1 Gene

SOURCE GeneReport for Unigene cluster for CELF1 Gene Hs.595333

mRNA Expression by UniProt/SwissProt for CELF1 Gene

Q92879-CELF1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with CELF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CELF1 Gene

Orthologs for CELF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CELF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CUGBP1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CELF1 35
  • 96.42 (n)
  • 99.61 (a)
CELF1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Celf1 16
Celf1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CELF1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELF1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELF1 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25921 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10819 35
zebrafish
(Danio rerio)
Actinopterygii celf1 36
  • 80 (a)
OneToOne
cugbp1 35
fruit fly
(Drosophila melanogaster)
Insecta aret 36
  • 30 (a)
ManyToMany
bru-2 36
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea etr-1 36
  • 38 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.33686 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7203 36
  • 50 (a)
OneToMany
Species with no ortholog for CELF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CELF1 Gene

ENSEMBL:
Gene Tree for CELF1 (if available)
TreeFam:
Gene Tree for CELF1 (if available)

Paralogs for CELF1 Gene

Paralogs for CELF1 Gene

genes like me logo Genes that share paralogs with CELF1: view

Variants for CELF1 Gene

Sequence variations from dbSNP and Humsavar for CELF1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs3508 -- 47,471,379(+) ACCCG(C/T)TGGAA intron-variant, utr-variant-3-prime
rs12054 -- 47,466,697(+) AGGAA(A/G)CAACG utr-variant-3-prime
rs15443 -- 47,470,476(+) TTAGA(G/T)GACAA intron-variant, utr-variant-3-prime
rs967829 -- 47,499,201(+) GAGCT(A/G)GCACA intron-variant
rs1044269 -- 47,466,188(-) GCCCT(C/T)GTCGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CELF1 Gene

Variant ID Type Subtype PubMed ID
nsv832141 CNV Loss 17160897
nsv897325 CNV Loss 21882294
nsv832142 CNV Loss 17160897
nsv512223 CNV Loss 21212237
esv2664490 CNV Deletion 23128226
nsv314 CNV Loss 18451855
esv2744438 CNV Deletion 23290073
esv1232065 CNV Deletion 17803354
esv2744439 CNV Deletion 23290073
nsv825872 CNV Gain 20364138

Relevant External Links for CELF1 Gene

HapMap Linkage Disequilibrium report
CELF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELF1 Gene

Disorders for CELF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for CELF1 Gene including...

Search for CELF1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CELF1 Gene

(3) Novoseek inferred disease relationships for CELF1 Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 91.2 11
muscular dystrophies 50 1
insulin resistance 0 1
genes like me logo Genes that share disorders with CELF1: view

No data available for UniProtKB/Swiss-Prot for CELF1 Gene

Publications for CELF1 Gene

  1. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. (PMID: 8948631) Timchenko L.T. … Swanson M.S. (Nucleic Acids Res. 1996) 2 3 4 23
  2. 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. (PMID: 9371827) Roberts R. … Timchenko L.T. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 23
  3. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PMID: 10893231) Good P.J. … Herring D.C. (J. Biol. Chem. 2000) 3 4 23
  4. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. (PMID: 11124939) Timchenko N.A. … Timchenko L.T. (J. Biol. Chem. 2001) 3 4 23
  5. The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. (PMID: 11158314) Ladd A.N. … Cooper T.A. (Mol. Cell. Biol. 2001) 3 4 23

Products for CELF1 Gene

  • Addgene plasmids for CELF1

Sources for CELF1 Gene

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