CELF1 Gene (Protein Coding)

CUGBP Elav-Like Family Member 1

GC11M063612
GIFtS:
39
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 dyst... See more...

Aliases for CELF1 Gene

Aliases for CELF1 Gene

  • CUGBP Elav-Like Family Member 1 2 3 4 5
  • BRUNOL2 2 3 4
  • CUGBP 2 3 4
  • NAB50 2 3 4
  • 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
  • EDEN-BP 2 3
  • CUG-BP 2 3
  • CUGBP1 3 4
  • HNab50 2 3
  • NAPOR 2 3
  • CUG Triplet Repeat, RNA-Binding Protein 1 2
  • CUG Triplet Repeat, RNA Binding Protein 1 2
  • CUGBP, Elav-Like Family Member 1 2
  • CUG-BP1 4
  • CELF-1 4
  • CELF1 5

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
  • GC11M055817
  • GC11M056042
  • GC11M056182
  • GC11M059698
  • GC11M050802
  • GC11M051597
  • GC11M052259
  • GC11M052919
  • GC11M053587
  • GC11M054253
  • GC11M054919
  • GC11M055619
  • GC11M061128

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 Adipogenesis and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is CELF2.

UniProtKB/Swiss-Prot Summary 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. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233).

Gene Wiki entry for CELF1 Gene

Additional gene information for CELF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CELF1 Gene

Genomics for CELF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CELF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELF1

Genomic Locations for CELF1 Gene

Latest Assembly
chr11:47,465,933-47,565,569
(GRCh38/hg38)
Size:
99,637 bases
Orientation:
Minus strand

Previous Assembly
chr11:47,487,489-47,587,091
(GRCh37/hg19 by Entrez Gene)
Size:
99,603 bases
Orientation:
Minus strand

chr11:47,487,496-47,587,121
(GRCh37/hg19 by Ensembl)
Size:
99,626 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 Structure • Gene Density

RefSeq DNA sequence for CELF1 Gene

Proteins for CELF1 Gene

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  • 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; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for CELF1 Gene

    Alternative splice isoforms for CELF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF1 Gene

Protein Expression for CELF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CELF1 Gene

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

Other Protein References for CELF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for CELF1 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for CELF1 Gene

GenScript: Design optimal peptide antigens:
  • RNA-binding protein BRUNOL-2 (CELF1_HUMAN)

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

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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. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233).
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, mRNA regulatory element binding NAS 10893231
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 16946708
GO:0003729 mRNA binding IDA 14726956
GO:0003730 mRNA 3'-UTR binding IBA,ISS 30508596
genes like me logo Genes that share ontologies with CELF1: view
genes like me logo Genes that share phenotypes with CELF1: view

Animal Models for research

miRNA for CELF1 Gene

miRTarBase miRNAs that target CELF1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF1

Clone products for research

  • Addgene plasmids for CELF1

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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

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,IBA 21873635
GO:0010494 cytoplasmic stress granule IDA 18164289
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with CELF1: view

Pathways & Interactions for CELF1 Gene

PathCards logo

SuperPathways for CELF1 Gene

SuperPathway Contained pathways
1 Adipogenesis
Adipogenesis
-
2 mRNA Splicing - Major Pathway
mRNA Processing
.41
genes like me logo Genes that share pathways with CELF1: view

Pathways by source for CELF1 Gene

2 BioSystems pathways for CELF1 Gene

SIGNOR curated interactions for CELF1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CELF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0006376 mRNA splice site selection IBA,ISS --
GO:0006397 mRNA processing TAS 8948631
GO:0007281 germ cell development NAS 10893231
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with CELF1: view

Drugs & Compounds for CELF1 Gene

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(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

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mRNA/cDNA for CELF1 Gene

91 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF1

Clone products for research

  • Addgene plasmids for CELF1

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

Expression for CELF1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CELF1 Gene

mRNA expression in normal human tissues for CELF1 Gene
mRNA expression by BioGPS for CELF1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for CELF1 Gene



Protein tissue co-expression partners for CELF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Muscle(4.6)
  • Lung(4.3)
  • Eye(3.9)
  • Intestine(3.6)
  • Skin(3.1)
  • Kidney(2.7)
  • Heart(2.7)
  • Blood(2.5)
  • Pancreas(2.3)
  • Thyroid gland(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with CELF1: view

Primer products for research

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
Cow
(Bos Taurus)
 Mammalia CUGBP1 31
  • 99 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Celf1 31
  • 99 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CELF1 31
  • 98 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CELF1 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CELF1 30 31
  • 96.42 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves CELF1 31
  • 96 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CELF1 31
  • 96 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25921 30
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.10819 30
Zebrafish
(Danio rerio)
 Actinopterygii celf1 31
  • 80 (a)
 OneToOne
cugbp1 30
Fruit Fly
(Drosophila melanogaster)
 Insecta aret 31
  • 30 (a)
 ManyToMany
bru-2 31
  • 29 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea etr-1 31
  • 38 (a)
 OneToMany
Rice
(Oryza sativa)
 Liliopsida Os.33686 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7203 31
  • 50 (a)
 OneToMany
Species where no ortholog for CELF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CELF1: view image

Paralogs for CELF1 Gene

Paralogs for CELF1 Gene

(20) SIMAP similar genes for CELF1 Gene using alignment to 10 proteins:

  • CELF1_HUMAN
  • E9PKA1_HUMAN
  • E9PKU1_HUMAN
  • E9PQK4_HUMAN
  • E9PSH0_HUMAN
  • F5H0D8_HUMAN
  • F5H3J7_HUMAN
  • F5H4Y5_HUMAN
  • F5H7M7_HUMAN
  • G5EA30_HUMAN
genes like me logo Genes that share paralogs with CELF1: view

Variants for CELF1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELF1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs145495807 Benign: not provided 47,472,254(-) C/T
NM_001172639.2(CELF1):c.1515G>A (p.Ser505=) 		SYNONYMOUS_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CELF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CELF1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CELF1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CELF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
myotonic dystrophy
  • dystrophia myotonica
myotonic dystrophy 1
  • dm1
myotonic dystrophy 2
  • dm2
myotonic disease
  • myotonic syndrome
x-linked hereditary ataxia
- elite association - COSMIC cancer census association via MalaCards
Search CELF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CELF1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 ā€¦ Swanson MS (Nucleic acids research 1996) 2 3 4 23
  2. CUG-BP binds to RNA substrates and recruits PARN deadenylase. (PMID: 16601207) Moraes KC ā€¦ Wilusz J (RNA (New York, N.Y.) 2006) 3 4 23
  3. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. (PMID: 16946708) Paul S ā€¦ Reddy S (The EMBO journal 2006) 3 4 23
  4. A functional deadenylation assay identifies human CUG-BP as a deadenylation factor. (PMID: 12799066) Paillard L ā€¦ Beverley Osborne H (Biology of the cell 2003) 3 4 23
  5. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. (PMID: 11158314) Ladd AN ā€¦ Cooper TA (Molecular and cellular biology 2001) 3 4 23

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