Description: Homo sapiens cell division cycle 5-like (CDC5L), mRNA. RefSeq Summary (NM_001253): The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr6:44,355,251-44,418,161 Size: 62,911 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr6:44,355,561-44,414,448 Size: 58,888 Coding Exon Count: 16
ID:CDC5L_HUMAN DESCRIPTION: RecName: Full=Cell division cycle 5-like protein; Short=Cdc5-like protein; AltName: Full=Pombe cdc5-related protein; FUNCTION: DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. SUBUNIT: Homodimer. Interacts with DAPK3 (By similarity). Binds DNA. Binds to adeno-pre-mRNA in an ATP-stimulated manner. Belongs to the spliceosome complex. Part of a spliceosomal 'core' complex consisting of CDC5L, PLRG1, SPF27, CCAP1, CCAP3 and CCAP6. Interacts with PLRG1, Lodestar/TTF2, and NIPP1/PPP1R8. Identified in the spliceosome C complex. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts (via its C-terminus) directly in the complex with PRPF19 and BCAS2. Interacts (via its C-terminus) directly with PRGL1 (via its WD40 repeat domain); the interaction is required for mRNA splicing but not for spliceosome assembly. Also interacts with CTNNBL1. SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Cytoplasm. Note=May shuttle between cytoplasm and nucleus. TISSUE SPECIFICITY: Ubiquitously expressed in both fetal and adult tissues. PTM: Phosphorylated on serine and threonine residues. Phosphorylation on Thr-411 and Thr-438 is required for CDC5L- mediated mRNA splicing. Has no effect on subcellular location nor on homodimerization. Phosphorylated in vitro by CDK2. Phosphorylation enhances interaction with PPP1R8. DISEASE: Note=A chromosomal aberration involving CDC5L is found in multicystic renal dysplasia. Translocation t(6;19)(p21;q13.1) with USF2. SIMILARITY: Belongs to the CEF1 family. SIMILARITY: Contains 2 HTH myb-type DNA-binding domains. SEQUENCE CAUTION: Sequence=BAA24862.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc5l/";
Amyotrophic Lateral Sclerosis Jennifer C Schymick et al. Lancet neurology 2007, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data., Lancet neurology.
[PubMed 17362836]
We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.
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 Q99459
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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.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein Q99459 (Reactome details) participates in the following event(s):
R-HSA-72124 Formation of the Spliceosomal A Complex R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-8953854 Metabolism of RNA
US Server
