Aliases for CELF6 Gene
Aliases for CELF6 Gene
External Ids for CELF6 Gene
- HGNC: 14059
- Entrez Gene: 60677
- Ensembl: ENSG00000140488
- OMIM: 612681
- UniProtKB: Q96J87
Previous HGNC Symbols for CELF6 Gene
- BRUNOL6
Previous GeneCards Identifiers for CELF6 Gene
- GC15M072577
- GC15M049407
Summaries for CELF6 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 CELF6 Gene
CELF6 (CUGBP Elav-Like Family Member 6) is a Protein Coding gene. Gene Ontology (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 CELF6 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELF6 Gene
Genomics for CELF6 Gene
GeneHancer (GH) Regulatory Elements for CELF6 Gene
Promoters and enhancers for CELF6 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 CELF6 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CELF6 Gene
Genomic Locations for CELF6 Gene
- chr15:72,284,727-72,320,184
- (GRCh38/hg38)
- Size:
- 35,458 bases
- Orientation:
- Minus strand
- chr15:72,577,068-72,612,525
- (GRCh37/hg19)
- Size:
- 35,458 bases
- Orientation:
- Minus strand
Genomic View for CELF6 Gene
Genes around CELF6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q23 by Entrez Gene
- 15q23 by HGNC
- 15q23 by Ensembl
CELF6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CELF6 Gene
Proteins for CELF6 Gene
-
Protein details for CELF6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96J87-CELF6_HUMAN
- Recommended name:
- CUGBP Elav-like family member 6
- Protein Accession:
- Q96J87
- B4DG28
- B4DJB6
- Q6PII4
- Q6ZNJ7
- Q8N607
Protein attributes for CELF6 Gene
- Size:
- 481 amino acids
- Molecular mass:
- 50477 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAC85148.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for CELF6 Gene
Post-translational modifications for CELF6 Gene
Other Protein References for CELF6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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No data available for DME Specific Peptides for CELF6 Gene
Domains & Families for CELF6 Gene
Gene Families for CELF6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CELF6 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CELF6 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ42868 fis, clone BRHIP2021615, highly similar to Homo sapiens bruno-like 6, RNA binding protein, mRNA (B3KWE6_HUMAN)
- cDNA FLJ55572, highly similar to Homo sapiens bruno-like 6, RNA binding protein, mRNA (B4DG28_HUMAN)
- cDNA FLJ56494, highly similar to Homo sapiens bruno-like 6, RNA binding protein, mRNA (B4DJB6_HUMAN)
- RNA-binding protein BRUNOL-6 (CELF6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96J87- Family:
-
- Belongs to the CELF/BRUNOL family.
Function for CELF6 Gene
Molecular function for CELF6 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.
Phenotypes From GWAS Catalog for CELF6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | NAS | 14761971 |
Phenotypes for CELF6 Gene
- GenomeRNAi human phenotypes for CELF6:
-
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
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-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CELF6 Gene
Localization for CELF6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CELF6 Gene
- Nucleus. Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS | 14761971 |
| GO:0005737 | cytoplasm | NAS | 14761971 |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for CELF6 Gene
No Data Available
Interacting Proteins for CELF6 Gene
GPS-Prot Interaction Network for CELF6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IDA | 14761971 |
| GO:0006397 | mRNA processing | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CELF6 Gene
Transcripts for CELF6 Gene
mRNA/cDNA for CELF6 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (605) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000287202 3345 bps (uc002auh.3)
- ENST00000437872 2497 bps (uc059lbd.1)
- ENST00000543764 1676 bps (uc010ukl.2)
- ENST00000395258 1741 bps (uc010biw.4)
- ENST00000567083 1496 bps (uc010ukm.2)
Unigene Clusters for CELF6 Gene
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| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||
| SP4: | - | - | - | - |
Expression for CELF6 Gene
This gene is overexpressed in Adipocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CELF6 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CELF6 Gene:
CELF6SOURCE GeneReport for Unigene cluster for CELF6 Gene:
Hs.348342mRNA Expression by UniProt/SwissProt for CELF6 Gene:
Q96J87-CELF6_HUMAN
Tissue specificity:
Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney.
Evidence on tissue expression from TISSUES for CELF6 Gene
- Blood(5)
- Lung(5)
- Nervous system(4.4)
- Spleen(4.1)
Primer Products
-
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Gene Expression Assay 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 CELF6 Gene
Orthologs for CELF6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| chimpanzee (Pan troglodytes) |
Mammalia | -- 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Celf6 34 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | CELF6 34 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | bru-3 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | unc-75 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8737 34 |
|
OneToMany |
- Species where no ortholog for CELF6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- rat (Rattus norvegicus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Evolution for CELF6 Gene
- ENSEMBL:
- Gene Tree for CELF6 (if available)
- TreeFam:
- Gene Tree for CELF6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CELF6: view image
Paralogs for CELF6 Gene
Variants for CELF6 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000018610 | -- | 72,302,257(-) | G/T | intron_variant | |
| rs1000128560 | -- | 72,309,234(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000129131 | -- | 72,286,809(-) | C/T | intron_variant | |
| rs1000135030 | -- | 72,298,978(-) | C/G | intron_variant | |
| rs1000222433 | -- | 72,290,739(-) | C/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1131199 | CNV | deletion | 24896259 |
| nsv1601 | CNV | deletion | 18451855 |
Gene Damage Index Score:
2.27;
40.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CELF6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELF6 Gene
Disorders for CELF6 Gene
Additional Disease Information for CELF6
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for CELF6 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CELF6 Gene
Publications for CELF6 Gene
- CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. (PMID: 14761971) Ladd AN … Cooper TA (The Journal of biological chemistry 2004) 3 4 22 58
- 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 58
- The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors. (PMID: 23407934) Dougherty JD … Heintz N (The Journal of neuroscience : the official journal of the Society for Neuroscience 2013) 3 58
- A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S … Cupples LA (BMC medical genetics 2007) 44 58
- Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox CS … Atwood LD (BMC medical genetics 2007) 44 58
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Sources for CELF6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
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