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... See more...

Aliases for CELF5 Gene

Aliases for CELF5 Gene

  • CUGBP Elav-Like Family Member 5 2 3 4 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
  • CELF5 5

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. Diseases associated with CELF5 include Atrial Septal Defect 1 and Specific Language Impairment. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is CELF6.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CELF5 Gene

Genomics for CELF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CELF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J003224 Promoter 1.2 EPDnew Ensembl 600.7 +0.5 540 2 CTCF POLR2A ZNF24 TRIM22 ARNT NONO RAD21 EGR1 ZBTB26 ZFHX2 CELF5 NONHSAG024471.2 NFIC
GH19J003193 Enhancer 1 Ensembl ENCODE 12.3 -30.7 -30660 1.6 LEF1 IKZF1 RBFOX2 ZNF24 NR2C1 DPF2 HDAC1 SOX6 FOXJ2 TCF12 NCLN CELF5 ZNF77
GH19J003284 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 6.2 +60.8 60825 2.2 SP1 ZNF692 MTA2 RBFOX2 PKNOX1 PATZ1 POLR2A HDAC1 GABPA ZFX CELF5 PIP5K1C NONHSAG024471.2 NFIC
GH19J003271 Promoter/Enhancer 0.9 FANTOM5 Ensembl 5.8 +46.5 46540 0.4 RFX1 JUND RFX3 BMI1 RCOR1 FOSL1 VEZF1 RFX5 MXI1 KDM1A TLE5 C19orf71 CELF5 ZNF555 NONHSAG024471.2 NFIC
GH19J002554 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 4.8 -669.0 -669007 1.9 GATAD2A PRDM10 TFE3 RXRB IRF2 ZNF600 TFDP1 JUND ZSCAN9 ZFHX2 CELF5 lnc-GADD45B-5 lnc-GADD45B-4 ENSG00000267412 GADD45B RF00017-2735 lnc-GADD45B-1 GNG7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELF5

Genomic Locations for CELF5 Gene

Genomic Locations for CELF5 Gene
chr19:3,224,661-3,297,076
(GRCh38/hg38)
Size:
72,416 bases
Orientation:
Plus strand
chr19:3,224,701-3,297,074
(GRCh37/hg19)
Size:
72,374 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; Note=Truncated C-terminus.; 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

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

Protein Domains for CELF5 Gene

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

Suggested Antigen Peptide Sequences for CELF5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52259, highly similar to Homo sapiens bruno-like 5, RNA binding protein, mRNA (B4DFI3_HUMAN)
  • RNA-binding protein BRUNOL-5 (CELF5_HUMAN)

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.

Phenotypes From GWAS Catalog for CELF5 Gene

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,IBA 21873635
GO:0003729 mRNA binding IBA 21873635
GO:0036002 pre-mRNA binding NAS 11158314
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF5

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 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 0
cytosol 0

Gene Ontology (GO) - Cellular Components for CELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IBA,ISS 11158314
GO:0005737 cytoplasm IBA 21873635
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with CELF5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CELF5 Gene

Pathways & Interactions for CELF5 Gene

PathCards logo

SuperPathways for CELF5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 11158314
GO:0006376 mRNA splice site selection IBA 21873635
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

mRNA/cDNA for CELF5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELF5

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

Expression for CELF5 Gene

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



Protein tissue co-expression partners for CELF5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
genes like me logo Genes that share expression patterns with CELF5: view

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 31
  • 96 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CELF5 30 31
  • 95.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CELF5 30 31
  • 94.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CELF5 31
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CELF5 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Celf5 30 17 31
  • 88.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Celf5 30
  • 88.37 (n)
Chicken
(Gallus gallus)
Aves CELF5 31
  • 84 (a)
OneToOne
BRUNOL5 30
  • 81.22 (n)
Lizard
(Anolis carolinensis)
Reptilia CELF5 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia celf5 30
  • 75.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii celf5a 30 31
  • 73.47 (n)
OneToMany
celf5b 31
  • 72 (a)
OneToMany
CELF5 (2 of 3) 31
  • 58 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta bru-3 30 31
  • 63.54 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004950 30
  • 61.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-75 30 31
  • 57.85 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G03457 30
  • 52.72 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0373400 30
  • 48.12 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8737 31
  • 43 (a)
OneToMany
Species where no ortholog for CELF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CELF5: view image

Paralogs for CELF5 Gene

Paralogs for CELF5 Gene

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

  • CELF5_HUMAN
  • B4DFI3_HUMAN
  • K7ES14_HUMAN
genes like me logo Genes that share paralogs with CELF5: view

Variants for CELF5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELF5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1057518402 Uncertain Significance: not specified 3,281,254(+) T/TCCGG FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs775741979 Uncertain Significance: not specified 3,284,953(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs17854481 - p.Phe65Leu

Additional dbSNP identifiers (rs#s) for CELF5 Gene

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)

Additional Variant Information for CELF5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CELF5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CELF5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 1
  • asd1
specific language impairment
  • language impairment, specific
- elite association - COSMIC cancer census association via MalaCards
Search CELF5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CELF5

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

No data available for 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 PJ … Herring DC (The Journal of biological chemistry 2000) 2 3 4
  2. 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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for CELF5 Gene

Sources for CELF5 Gene