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Aliases for CELF1 Gene

Aliases for CELF1 Gene

  • CUGBP Elav-Like Family Member 1 2 3 5
  • Embryo Deadenylation Element-Binding Protein Homolog 3 4
  • Nuclear Polyadenylated RNA-Binding Protein, 50-KD 2 3
  • 50 KDa Nuclear Polyadenylated RNA-Binding Protein 3 4
  • Embryo Deadenylation Element Binding Protein 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
  • BRUNOL2 3 4
  • CUG-BP1 3 4
  • CUGBP1 3 4
  • CELF-1 3 4
  • CUGBP 3 4
  • NAB50 3 4
  • CUG Triplet Repeat, RNA-Binding Protein 1 2
  • CUG Triplet Repeat, RNA Binding Protein 1 2
  • CUGBP, Elav-Like Family Member 1 2
  • EDEN-BP 3
  • CUG-BP 3
  • HNab50 3
  • 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
  • GC11M047613
  • GC11M047952
  • GC11M050802
  • GC11M051597
  • GC11M052259
  • GC11M052919

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 and Myotonic Dystrophy 1. Among its related pathways are mRNA Splicing - Major Pathway and Adipogenesis. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is CELF2.

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

Additional gene information for CELF1 Gene

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

Genomics for CELF1 Gene

Regulatory Elements for CELF1 Gene

Enhancers for CELF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H047506 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +52.0 51988 14 HDGF PKNOX1 ZFP64 FOS ZC3H11A JUNB REST SREBF1 SMARCA4 GLIS1 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 C1QTNF4 DDB2 ZNF408 SLC39A13 AMBRA1 CELF1
GH11H047979 1.5 FANTOM5 ENCODE dbSUPER 17.5 -416.5 -416452 5 TBP RB1 SIN3A FEZF1 RAD21 YY1 GLIS2 ZSCAN5C RCOR1 SMARCA5 CELF1 PTPRJ-AS1 PTPRJ ACP2 C1QTNF4 FNBP4
GH11H047182 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +379.2 379201 8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ENSG00000271350 PACSIN3 LRP4 CELF1 C11orf49 MADD NR1H3 MIR6745
GH11H047521 1.4 Ensembl ENCODE dbSUPER 12.6 +41.4 41354 4 HDAC1 HDGF PKNOX1 INSM2 FEZF1 RAD21 BATF ZEB1 ZNF366 SCRT2 C1QTNF4 NDUFS3 PTPMT1 CELF1 FAM180B ENSG00000231880 RNU5E-10P C11orf49 ENSG00000270072 RN7SL652P
GH11H047373 1.8 FANTOM5 ENCODE dbSUPER 9.6 +188.9 188927 6 HDGF PKNOX1 SIN3A ARID4B YBX1 ZNF766 CBX5 ZNF207 ZNF143 ZNF548 FNBP4 NUP160 ENSG00000200090 ENSG00000270060 C1QTNF4 SLC39A13 PSMC3 DDB2 SPI1 RPS10P19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CELF1 on UCSC Golden Path with GeneCards custom track

Promoters for CELF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039704 -431 1601 HDGF ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 GLIS2 ZNF143 ZNF207

Genomic Location for CELF1 Gene

Chromosome:
11
Start:
47,465,933 bp from pter
End:
47,565,569 bp from pter
Size:
99,637 bases
Orientation:
Minus strand

Genomic View for CELF1 Gene

Genes around CELF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CELF1 Gene

  • Phosphorylated. Its phosphorylation status increases in senescent cells.
  • Ubiquitination at posLast=166166
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CELF1

No data available for DME Specific Peptides for CELF1 Gene

Domains & Families for CELF1 Gene

Gene Families for CELF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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 :
  • RRM1 and RRM2 domains preferentially target UGU(U/G)-rich mRNA elements.
  • Belongs to the CELF/BRUNOL family.
Domain:
  • RRM1 and RRM2 domains preferentially target UGU(U/G)-rich mRNA elements.
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).

Phenotypes From GWAS Catalog for CELF1 Gene

Gene Ontology (GO) - Molecular Function for CELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000900 translation repressor activity, nucleic acid binding NAS 10893231
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IDA,TAS 16946708
GO:0003729 mRNA binding IDA 14726956
GO:0005515 protein binding IPI 16946708
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

Clone Products

  • Addgene plasmids for CELF1
  • Applied Biological Materials Clones for CELF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CELF1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CELF1 Gene

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

Pathways & Interactions for CELF1 Gene

SuperPathways for CELF1 Gene

SuperPathway Contained pathways
1 Adipogenesis
2 mRNA Splicing - Major Pathway
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:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with CELF1: view

No data available for SIGNOR curated interactions for CELF1 Gene

Drugs & Compounds for CELF1 Gene

(1) Drugs for CELF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CELF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Clone Products

  • Addgene plasmids for CELF1
  • Applied Biological Materials Clones for CELF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CELF1 Gene

Protein differential expression in normal tissues from HIPED for CELF1 Gene

This gene is overexpressed in Breast (7.8), Peripheral blood mononuclear cells (7.8), and Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CELF1 Gene



Protein tissue co-expression partners for CELF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CELF1 Gene:

CELF1

SOURCE GeneReport for Unigene cluster for CELF1 Gene:

Hs.595333

mRNA Expression by UniProt/SwissProt for CELF1 Gene:

Q92879-CELF1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CELF1 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Muscle(4.6)
  • Lung(4.2)
  • Eye(3.5)
  • Intestine(3.3)
  • Heart(2.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with CELF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
mouse
(Mus musculus)
Mammalia Celf1 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CUGBP1 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CELF1 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CELF1 33 34
  • 96.42 (n)
chicken
(Gallus gallus)
Aves CELF1 34
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELF1 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10819 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25921 33
zebrafish
(Danio rerio)
Actinopterygii celf1 34
  • 80 (a)
OneToOne
cugbp1 33
fruit fly
(Drosophila melanogaster)
Insecta aret 34
  • 30 (a)
ManyToMany
bru-2 34
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea etr-1 34
  • 38 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.33686 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7203 34
  • 50 (a)
OneToMany
Species where no ortholog for CELF1 was found in the sources mined by GeneCards:
  • 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

Variants for CELF1 Gene

Sequence variations from dbSNP and Humsavar for CELF1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000007034 -- 47,524,641(+) GGTGC(A/G)GGTGC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000010728 -- 47,560,793(+) TGGAC(C/T)CTCAG intron-variant
rs1000068775 -- 47,481,253(+) TTCCC(A/C/G)AGCAG intron-variant
rs1000098771 -- 47,513,172(+) ACATA(A/C)AATTC intron-variant
rs1000149468 -- 47,512,779(+) CAATA(A/C)GTAAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv1232065 CNV deletion 17803354
esv2664490 CNV deletion 23128226
esv2744438 CNV deletion 23290073
esv2744439 CNV deletion 23290073
esv3547707 CNV deletion 23714750
esv3626203 CNV loss 21293372
nsv1113387 CNV deletion 24896259
nsv1120085 OTHER inversion 24896259
nsv1124575 CNV deletion 24896259
nsv1134114 CNV deletion 24896259
nsv314 CNV deletion 18451855
nsv512223 CNV loss 21212237
nsv825872 CNV gain 20364138
nsv832141 CNV loss 17160897
nsv832142 CNV loss 17160897
nsv957884 CNV deletion 24416366
nsv972949 CNV duplication 23825009

Variation tolerance for CELF1 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELF1

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

Disorders for CELF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CELF1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
myotonic dystrophy 1
  • myotonic dystrophy type 1
- elite association - COSMIC cancer census association via MalaCards
Search CELF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CELF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELF1
genes like me logo Genes that share disorders with CELF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 LT … Swanson MS (Nucleic acids research 1996) 2 3 4 22 60
  2. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. (PMID: 16946708) Paul S … Reddy S (The EMBO journal 2006) 3 4 22 60
  3. CUG-BP binds to RNA substrates and recruits PARN deadenylase. (PMID: 16601207) Moraes KC … Wilusz J (RNA (New York, N.Y.) 2006) 3 4 22 60
  4. A functional deadenylation assay identifies human CUG-BP as a deadenylation factor. (PMID: 12799066) Paillard L … Beverley Osborne H (Biology of the cell 2003) 3 4 22 60
  5. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. (PMID: 11158314) Ladd AN … Cooper TA (Molecular and cellular biology 2001) 3 4 22 60

Products for CELF1 Gene

  • Addgene plasmids for CELF1

Sources for CELF1 Gene

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