Description: Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA. RefSeq Summary (NM_020180): 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 transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr18:34,823,008-35,146,000 Size: 322,993 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr18:34,833,774-35,145,604 Size: 311,831 Coding Exon Count: 12
ID:CELF4_HUMAN DESCRIPTION: RecName: Full=CUGBP Elav-like family member 4; Short=CELF-4; AltName: Full=Bruno-like protein 4; AltName: Full=CUG-BP- and ETR-3-like factor 4; AltName: Full=RNA-binding protein BRUNOL-4; 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. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. 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. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. TISSUE SPECIFICITY: Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes. SIMILARITY: Belongs to the CELF/BRUNOL family. SIMILARITY: Contains 3 RRM (RNA recognition motif) domains. SEQUENCE CAUTION: Sequence=BAD93011.1; Type=Erroneous initiation;
Angiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
Isoxazoles S Volpi et al. Molecular psychiatry 2009, Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia., Molecular psychiatry.
[PubMed 18521091]
Lipids Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BZC1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000380 alternative mRNA splicing, via spliceosome GO:0000381 regulation of alternative mRNA splicing, via spliceosome GO:0006376 mRNA splice site selection GO:0006397 mRNA processing GO:0007281 germ cell development GO:0008380 RNA splicing GO:0009792 embryo development ending in birth or egg hatching GO:0017148 negative regulation of translation GO:0048025 negative regulation of mRNA splicing, via spliceosome GO:0048026 positive regulation of mRNA splicing, via spliceosome GO:0090394 negative regulation of excitatory postsynaptic potential GO:1902866 regulation of retina development in camera-type eye