Human Gene CWC15 (uc001pfd.4)
  Description: Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae) (CWC15), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr11:94,695,787-94,706,776 Size: 10,990 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr11:94,696,550-94,705,349 Size: 8,800 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:94,695,787-94,706,776)mRNA (may differ from genome)Protein (229 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CWC15_HUMAN
DESCRIPTION: RecName: Full=Spliceosome-associated protein CWC15 homolog;
FUNCTION: Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing.
SUBUNIT: 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 directly with CTNNBL1 in the complex.
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the CWC15 family.
CAUTION: Has been termed C11orf5 (PubMed:10873569), but is not the official C11orf5 as defined by HGNC.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CWC15
CDC HuGE Published Literature: CWC15
Positive Disease Associations: Attention deficit hyperactivity disorder and conduct disorder
Related Studies:
  1. Attention deficit hyperactivity disorder and conduct disorder
    Anney ,et al. 2008, Conduct disorder and ADHD: Evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study, American journal of medical genetics. Part B, Neuropsychiatric genetics 2008 147B- 8 : 1369-78. [PubMed 18951430]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.96 RPKM in Testis
Total median expression: 1060.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.60123-0.338 Picture PostScript Text
3' UTR -187.61763-0.246 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006973 - Cwf_Cwc_15

Pfam Domains:
PF04889 - Cwf15/Cwc15 cell cycle control protein

ModBase Predicted Comparative 3D Structure on Q9P013
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005739 mitochondrion
GO:0016607 nuclear speck
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  AF161497 - Homo sapiens HSPC148 mRNA, complete cds.
JD094363 - Sequence 75387 from Patent EP1572962.
JD379910 - Sequence 360934 from Patent EP1572962.
JD385502 - Sequence 366526 from Patent EP1572962.
JD469426 - Sequence 450450 from Patent EP1572962.
JD253146 - Sequence 234170 from Patent EP1572962.
BC040946 - Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae), mRNA (cDNA clone MGC:48787 IMAGE:6067745), complete cds.
AK225956 - Homo sapiens mRNA for hypothetical protein LOC51503 variant, clone: FCC114E08.
AF110775 - Homo sapiens adrenal gland protein AD-002 mRNA, complete cds.
AJ250393 - Homo sapiens mRNA for chromosome 11 hypothetical protein (ORF5).
AK314900 - Homo sapiens cDNA, FLJ95804.
HQ257942 - Synthetic construct Homo sapiens clone IMAGE:100072251 CWC15 spliceosome-associated protein homolog (S. cerevisiae) (CWC15) gene, encodes complete protein.
KJ893924 - Synthetic construct Homo sapiens clone ccsbBroadEn_03318 CWC15 gene, encodes complete protein.
BC032629 - Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:5403657), partial cds.
BC006975 - Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4051771), partial cds.
AK309042 - Homo sapiens cDNA, FLJ99083.
JD332642 - Sequence 313666 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein Q9P013 (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

-  Other Names for This Gene
  Alternate Gene Symbols: AD-002, B2RC17, C11orf5, CWC15_HUMAN, HSPC148, NM_016403, NP_057487, Q05BV9, Q05DM1, Q9P013, Q9UI29
UCSC ID: uc001pfd.4
RefSeq Accession: NM_016403
Protein: Q9P013 (aka CWC15_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016403.3
exon count: 7CDS single in 3' UTR: no RNA size: 1592
ORF size: 689CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1370.00frame shift in genome: yes % Coverage: 98.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.