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Aliases for CELF3 Gene

Aliases for CELF3 Gene

  • CUGBP Elav-Like Family Member 3 2 3 5
  • Trinucleotide Repeat-Containing Gene 4 Protein 3 4
  • Expanded Repeat Domain Protein CAG/CTG 4 3 4
  • Expanded Repeat Domain, CAG/CTG 4 2 3
  • Trinucleotide Repeat Containing 4 2 3
  • CUG-BP- And ETR-3-Like Factor 3 3 4
  • ELAV-Type RNA-Binding Protein 1 3 4
  • RNA-Binding Protein BRUNOL-1 3 4
  • Bruno-Like Protein 1 3 4
  • CAG Repeat Protein 4 3 4
  • CAG Repeat Domain 2 3
  • BRUNOL1 3 4
  • TNRC4 3 4
  • CAGH4 3 4
  • ERDA4 3 4
  • ETR-1 3 4
  • CUGBP, Elav-Like Family Member 3 2
  • CUG-BP And ETR-3 Like Factor 3 2
  • CELF-3 4

External Ids for CELF3 Gene

Previous HGNC Symbols for CELF3 Gene

  • TNRC4

Previous GeneCards Identifiers for CELF3 Gene

  • GC01M123049

Summaries for CELF3 Gene

Entrez Gene Summary for CELF3 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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

GeneCards Summary for CELF3 Gene

CELF3 (CUGBP Elav-Like Family Member 3) is a Protein Coding gene. Among its related pathways are Preimplantation Embryo. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ENSG00000273025.

UniProtKB/Swiss-Prot for CELF3 Gene

  • RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. 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. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELF3 Gene

Genomics for CELF3 Gene

Regulatory Elements for CELF3 Gene

Enhancers for CELF3 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
GH01G151606 1.5 FANTOM5 Ensembl ENCODE 10.8 +109.8 109818 1.9 PKNOX1 NFIB SIN3A RFX5 ZNF121 GATA2 ZNF366 SCRT2 FOS SMARCC1 TUFT1 RPS10P6 MIR554 ENSG00000252840 ENSG00000227045 CGN RIIAD1 CELF3 ENSG00000232536 ENSG00000232937
GH01G151494 1.5 Ensembl ENCODE dbSUPER 10.3 +221.7 221692 1.5 PKNOX1 SIN3A FEZF1 ZNF2 FOS SP3 JUNB TSHZ1 TBX21 ZNF518A ENSG00000252840 POGZ TUFT1 MIR554 RPS10P6 ENSG00000232536 ENSG00000227045 RIIAD1 CELF3 ENSG00000250734
GH01G151610 1.4 ENCODE dbSUPER 10.8 +104.7 104723 3.5 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SETDB1 CTSK UBE2D3P3 GOLPH3L GABPB2 RPS10P6 MIR554 TUFT1 ENSG00000252840 ENSG00000227045
GH01G151537 1.4 ENCODE dbSUPER 10.4 +176.6 176615 7.3 MLX FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 GLIS1 CGN SNX27 HRNR CELF3 ENSG00000227045 RIIAD1 MRPL9 OAZ3 ENSG00000232937 RNU6-1062P
GH01G151472 1.4 FANTOM5 Ensembl ENCODE 10.3 +243.6 243562 1.5 CBX3 ATF1 CREB3L1 RAD21 ZBTB7B ZNF121 ELK1 EGR1 CREM NCOA1 SELENBP1 CGN ENSG00000252840 ENSG00000232536 TUFT1 CELF3 LINGO4 THEM5 OAZ3 C1orf56
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CELF3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CELF3 Gene

Chromosome:
1
Start:
151,700,052 bp from pter
End:
151,716,821 bp from pter
Size:
16,770 bases
Orientation:
Minus strand

Genomic View for CELF3 Gene

Genes around CELF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF3 Gene

Proteins for CELF3 Gene

  • Protein details for CELF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SZQ8-CELF3_HUMAN
    Recommended name:
    CUGBP Elav-like family member 3
    Protein Accession:
    Q5SZQ8
    Secondary Accessions:
    • B7ZKK6
    • O15414
    • Q499Y6
    • Q5SZQ7
    • Q6NVK0
    • Q8IZ98
    • Q9BZC2
    • Q9HB30

    Protein attributes for CELF3 Gene

    Size:
    465 amino acids
    Molecular mass:
    50548 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB91444.1; Type=Frameshift; Positions=136; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CELF3 Gene

    Alternative splice isoforms for CELF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF3 Gene

Post-translational modifications for CELF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CELF3 Gene

Domains & Families for CELF3 Gene

Protein Domains for CELF3 Gene

Graphical View of Domain Structure for InterPro Entry

Q5SZQ8

UniProtKB/Swiss-Prot:

CELF3_HUMAN :
  • Belongs to the CELF/BRUNOL family.
Family:
  • Belongs to the CELF/BRUNOL family.
genes like me logo Genes that share domains with CELF3: view

Function for CELF3 Gene

Molecular function for CELF3 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. 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. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Gene Ontology (GO) - Molecular Function for CELF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IMP 17725984
GO:0003729 mRNA binding NAS 11158314
GO:0097322 7SK snRNA binding IEA --
genes like me logo Genes that share ontologies with CELF3: view
genes like me logo Genes that share phenotypes with CELF3: view

Animal Models for CELF3 Gene

MGI Knock Outs for CELF3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CELF3 Gene

Localization for CELF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF3 Gene

Nucleus. Cytoplasm.

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 CELF3 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CELF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11158314
GO:0005737 cytoplasm IEA,IDA 17725984
GO:0016604 nuclear body IEA --
genes like me logo Genes that share ontologies with CELF3: view

Pathways & Interactions for CELF3 Gene

SuperPathways for CELF3 Gene

SuperPathway Contained pathways
1 Preimplantation Embryo
genes like me logo Genes that share pathways with CELF3: view

Pathways by source for CELF3 Gene

1 BioSystems pathway for CELF3 Gene

Gene Ontology (GO) - Biological Process for CELF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 11158314
GO:0000398 mRNA splicing, via spliceosome NAS 11158314
GO:0006397 mRNA processing IEA --
GO:0007283 spermatogenesis IEA --
GO:0008380 RNA splicing IMP 17725984
genes like me logo Genes that share ontologies with CELF3: view

No data available for SIGNOR curated interactions for CELF3 Gene

Drugs & Compounds for CELF3 Gene

No Compound Related Data Available

Transcripts for CELF3 Gene

Unigene Clusters for CELF3 Gene

CUGBP, Elav-like family member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CELF3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3: -
SP4:
SP5:

Relevant External Links for CELF3 Gene

GeneLoc Exon Structure for
CELF3
ECgene alternative splicing isoforms for
CELF3

Expression for CELF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CELF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELF3 Gene

This gene is overexpressed in Pituitary (x7.3), Brain - Cerebellum (x5.2), Brain - Cerebellar Hemisphere (x4.7), Brain - Cortex (x4.3), Brain - Nucleus accumbens (basal ganglia) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for CELF3 Gene

This gene is overexpressed in Retina (60.2) and Islet of Langerhans (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CELF3 Gene



Protein tissue co-expression partners for CELF3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CELF3 Gene:

CELF3

SOURCE GeneReport for Unigene cluster for CELF3 Gene:

Hs.26047

mRNA Expression by UniProt/SwissProt for CELF3 Gene:

Q5SZQ8-CELF3_HUMAN
Tissue specificity: Expressed in brain.

Evidence on tissue expression from TISSUES for CELF3 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CELF3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CELF3 Gene

Orthologs for CELF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CELF3 34 35
  • 98.87 (n)
dog
(Canis familiaris)
Mammalia CELF3 34 35
  • 96.17 (n)
cow
(Bos Taurus)
Mammalia CELF3 34 35
  • 95.23 (n)
mouse
(Mus musculus)
Mammalia Celf3 34 16 35
  • 94.25 (n)
rat
(Rattus norvegicus)
Mammalia Celf3 34
  • 93.76 (n)
oppossum
(Monodelphis domestica)
Mammalia CELF3 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELF3 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELF3 34 35
  • 83.07 (n)
lizard
(Anolis carolinensis)
Reptilia CELF3 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15393 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68437 34
zebrafish
(Danio rerio)
Actinopterygii celf3a 34 35
  • 77.65 (n)
celf3b 35
  • 77 (a)
OneToMany
CELF3 (3 of 3) 35
  • 41 (a)
OneToMany
etr1 34
fruit fly
(Drosophila melanogaster)
Insecta bru-3 35
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-75 35
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8737 35
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3573 34
Species where no ortholog for CELF3 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)
  • 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)
  • rice (Oryza sativa)
  • 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 CELF3 Gene

ENSEMBL:
Gene Tree for CELF3 (if available)
TreeFam:
Gene Tree for CELF3 (if available)

Paralogs for CELF3 Gene

Paralogs for CELF3 Gene

(14) SIMAP similar genes for CELF3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CELF3: view

Variants for CELF3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CELF3 Gene

CELF3_HUMAN-Q5SZQ8
The poly-Gln tract in AAK07474 may be polymorphic.

Sequence variations from dbSNP and Humsavar for CELF3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000079312 -- 151,716,616(+) GCGGC(A/G)GGGCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000306906 -- 151,701,975(+) GTTAG(A/G)AGGTA utr-variant-3-prime
rs1000538476 -- 151,704,347(+) AGCTC(A/T)GTGGC intron-variant
rs1000554424 -- 151,716,245(+) ATGCC(A/C)CCAGG intron-variant, utr-variant-5-prime
rs1001066102 -- 151,714,159(+) GGCAC(C/T)AGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CELF3 Gene

Variant ID Type Subtype PubMed ID
nsv952176 CNV deletion 24416366

Variation tolerance for CELF3 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELF3

Disorders for CELF3 Gene

Relevant External Links for CELF3

Genetic Association Database (GAD)
CELF3
Human Genome Epidemiology (HuGE) Navigator
CELF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELF3

No disorders were found for CELF3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CELF3 Gene

Publications for CELF3 Gene

  1. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis R.L. … Ross C.A. (Hum. Genet. 1997) 2 3 4 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. (PMID: 17725984) Chapple J.P. … Gallo J.M. (Hum. Mol. Genet. 2007) 3 22 64
  4. Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. (PMID: 15009664) Wang J. … Andreadis A. (J. Neurochem. 2004) 3 4 64
  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 64

Products for CELF3 Gene

Sources for CELF3 Gene

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