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Aliases for CELF5 Gene

Aliases for CELF5 Gene

  • CUGBP Elav-Like Family Member 5 2 3 5
  • RNA-Binding Protein BRUNOL-5 3 4
  • BRUNOL5 3 4
  • CELF-5 3 4
  • Bruno (Drosophila) -Like 5, RNA Binding Protein 2
  • Bruno-Like 5, RNA Binding Protein (Drosophila) 2
  • CUGBP, Elav-Like Family Member 5 2
  • Bruno-Like 5 RNA Binding Protein 3
  • CUG-BP- And ETR-3-Like Factor 5 4
  • CUG-BP And ETR-3 Like Factor 5 3
  • Bruno-Like Protein 5 4
  • BRUNOL-5 3

External Ids for CELF5 Gene

Previous HGNC Symbols for CELF5 Gene

  • BRUNOL5

Previous GeneCards Identifiers for CELF5 Gene

  • GC19P002992

Summaries for CELF5 Gene

Entrez Gene Summary for CELF5 Gene

  • This gene encodes a member of the the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for CELF5 Gene

CELF5 (CUGBP Elav-Like Family Member 5) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is CELF4.

UniProtKB/Swiss-Prot for CELF5 Gene

  • RNA-binding protein implicated 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. 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 CELF5 Gene

Genomics for CELF5 Gene

Regulatory Elements for CELF5 Gene

Enhancers for CELF5 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
GH19G003193 0.9 ENCODE 12.3 -30.7 -30676 0.9 ATF1 ARNT SIN3A TCF12 NCOA1 ZNF592 SMARCA4 MYNN NR2C1 KDM1A NCLN CELF5 ZNF77 GC19M003196
GH19G002554 1.3 Ensembl ENCODE dbSUPER 4.8 -669.1 -669145 1.7 ELF3 MLX ARID4B FEZF1 THRB ZNF48 ZSCAN9 RARA ZNF366 FOS CELF5 GC19P002552 PIR44748
GH19G003284 1 ENCODE 6.2 +60.5 60527 1.7 HDGF ATF1 PKNOX1 ARID4B SIN3A ZNF48 GLIS2 KLF7 KLF13 KDM4B CELF5 PIP5K1C GC19M003293 GC19M003224
GH19G003271 0.7 FANTOM5 5.8 +46.5 46483 0.3 FOSL1 JUND RFX1 RFX3 MAX RCOR1 KDM1A BMI1 AES C19orf71 CELF5 ZNF555 GC19M003293 GC19M003224
GH19G003231 0.6 FANTOM5 5.9 +6.9 6905 0.4 ZFHX2 ZNF366 ZNF747 KDM1A YBX1 ZNF24 ZBTB17 EGR2 ZNF77 CACTIN CACTIN-AS1 NCLN S1PR4 TLE6 AES ENSG00000267304 SF3A2 CELF5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CELF5 on UCSC Golden Path with GeneCards custom track

Promoters for CELF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106013 124 401 BCOR ZNF639 CTCF MAZ RB1 ARNT NR3C1 RBBP5 ZBTB7A RAD21

Genomic Location for CELF5 Gene

Chromosome:
19
Start:
3,224,676 bp from pter
End:
3,297,076 bp from pter
Size:
72,401 bases
Orientation:
Plus strand

Genomic View for CELF5 Gene

Genes around CELF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELF5 Gene

Proteins for CELF5 Gene

  • Protein details for CELF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6W0-CELF5_HUMAN
    Recommended name:
    CUGBP Elav-like family member 5
    Protein Accession:
    Q8N6W0
    Secondary Accessions:
    • D6W614
    • O75253
    • Q59GP2
    • Q86VW6
    • Q9BZC0
    • Q9NR86

    Protein attributes for CELF5 Gene

    Size:
    485 amino acids
    Molecular mass:
    52355 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC27666.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK07476.1; Type=Erroneous termination; Positions=482; Note=Translated as Gly.; Evidence={ECO:0000305}; Sequence=BAD92304.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CELF5 Gene

    Alternative splice isoforms for CELF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELF5 Gene

Post-translational modifications for CELF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CELF5 Gene

Domains & Families for CELF5 Gene

Gene Families for CELF5 Gene

Suggested Antigen Peptide Sequences for CELF5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N6W0

UniProtKB/Swiss-Prot:

CELF5_HUMAN :
  • Belongs to the CELF/BRUNOL family.
Family:
  • Belongs to the CELF/BRUNOL family.
genes like me logo Genes that share domains with CELF5: view

Function for CELF5 Gene

Molecular function for CELF5 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein implicated 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. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Gene Ontology (GO) - Molecular Function for CELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with CELF5: view
genes like me logo Genes that share phenotypes with CELF5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CELF5 Gene

Localization for CELF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELF5 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 CELF5 gene
Compartment Confidence
nucleus 3
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CELF5: view

Pathways & Interactions for CELF5 Gene

SuperPathways for CELF5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with CELF5: view

No data available for Pathways by source and SIGNOR curated interactions for CELF5 Gene

Drugs & Compounds for CELF5 Gene

No Compound Related Data Available

Transcripts for CELF5 Gene

Unigene Clusters for CELF5 Gene

CUGBP, Elav-like family member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CELF5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d ^ 14 ^ 15
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6: - - -
SP7:

Relevant External Links for CELF5 Gene

GeneLoc Exon Structure for
CELF5
ECgene alternative splicing isoforms for
CELF5

Expression for CELF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CELF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELF5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.7), Brain - Cortex (x5.6), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Frontal Cortex (BA9) (x4.7), Brain - Amygdala (x4.3), Brain - Putamen (basal ganglia) (x4.3), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for CELF5 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CELF5 Gene



Protein tissue co-expression partners for CELF5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CELF5 Gene:

CELF5

SOURCE GeneReport for Unigene cluster for CELF5 Gene:

Hs.655747

mRNA Expression by UniProt/SwissProt for CELF5 Gene:

Q8N6W0-CELF5_HUMAN
Tissue specificity: Expressed in brain.

Evidence on tissue expression from TISSUES for CELF5 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CELF5: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CELF5 Gene

Orthologs for CELF5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CELF5 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia CELF5 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CELF5 34 35
  • 95.32 (n)
dog
(Canis familiaris)
Mammalia CELF5 34 35
  • 94.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CELF5 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CELF5 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Celf5 34 16 35
  • 88.95 (n)
rat
(Rattus norvegicus)
Mammalia Celf5 34
  • 88.37 (n)
chicken
(Gallus gallus)
Aves CELF5 35
  • 84 (a)
OneToOne
BRUNOL5 34
  • 81.22 (n)
lizard
(Anolis carolinensis)
Reptilia CELF5 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celf5 34
  • 75.38 (n)
zebrafish
(Danio rerio)
Actinopterygii celf5a 34 35
  • 73.47 (n)
celf5b 35
  • 72 (a)
OneToMany
CELF5 (2 of 3) 35
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bru-3 34 35
  • 63.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004950 34
  • 61.76 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-75 34 35
  • 57.85 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G03457 34
  • 52.72 (n)
rice
(Oryza sativa)
Liliopsida Os05g0373400 34
  • 48.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8737 35
  • 43 (a)
OneToMany
Species where no ortholog for CELF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CELF5 Gene

ENSEMBL:
Gene Tree for CELF5 (if available)
TreeFam:
Gene Tree for CELF5 (if available)

Paralogs for CELF5 Gene

Paralogs for CELF5 Gene

(8) SIMAP similar genes for CELF5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CELF5: view

Variants for CELF5 Gene

Sequence variations from dbSNP and Humsavar for CELF5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1057518402 Uncertain significance 3,281,259(+) CCGGC(-/CGGC)GCATG nc-transcript-variant, reference, frameshift-variant
rs775741979 Uncertain significance 3,284,953(+) AGTCC(A/C)GCAGT nc-transcript-variant, reference, missense
rs1000000015 -- 3,228,462(+) TGGCT(A/G)CCTGG intron-variant
rs1000005155 -- 3,289,412(+) TGCAA(C/T)GGCTC intron-variant
rs1000006588 -- 3,258,293(+) TAATT(G/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CELF5 Gene

Variant ID Type Subtype PubMed ID
dgv1015e212 CNV loss 25503493
dgv1975e59 CNV duplication 20981092
esv1459053 CNV insertion 17803354
esv1699504 CNV insertion 17803354
esv2494686 CNV insertion 19546169
nsv1071496 CNV deletion 25765185
nsv1072305 CNV deletion 25765185
nsv1112741 CNV deletion 24896259
nsv1118803 CNV deletion 24896259
nsv1131384 CNV deletion 24896259
nsv1133438 CNV deletion 24896259
nsv509716 CNV insertion 20534489
nsv509717 CNV insertion 20534489
nsv833712 CNV loss 17160897
nsv953948 CNV deletion 24416366

Variation tolerance for CELF5 Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELF5 Gene

Disorders for CELF5 Gene

Relevant External Links for CELF5

Genetic Association Database (GAD)
CELF5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELF5

No disorders were found for CELF5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CELF5 Gene

Publications for CELF5 Gene

  1. 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) 2 3 4 64
  2. 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
  3. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PMID: 20708005) Chalasani N. … Rotter J.I. (Gastroenterology 2010) 46 64
  4. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PMID: 20889312) Wang K.S. … Aragam N. (Schizophr. Res. 2010) 3 64
  5. Differential expression of the Brunol/CELF family genes during Xenopus laevis early development. (PMID: 19757395) Wu J. … Mao B. (Int. J. Dev. Biol. 2010) 3 64

Products for CELF5 Gene

Sources for CELF5 Gene

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