Human Gene CWC27 (ENST00000381070.8_4) from GENCODE V47lift37
  Description: CWC27 spliceosome associated cyclophilin, transcript variant 1 (from RefSeq NM_005869.4)
Gencode Transcript: ENST00000381070.8_4
Gencode Gene: ENSG00000153015.17_14
Transcript (Including UTRs)
   Position: hg19 chr5:64,064,757-64,314,577 Size: 249,821 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr5:64,064,974-64,314,148 Size: 249,175 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:64,064,757-64,314,577)mRNA (may differ from genome)Protein (472 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CWC27_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase CWC27 homolog; Short=PPIase CWC27; EC=5.2.1.8; AltName: Full=Antigen NY-CO-10; AltName: Full=Serologically defined colon cancer antigen 10;
FUNCTION: PPIases accelerate the folding of proteins (By similarity).
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
SIMILARITY: Belongs to the cyclophilin-type PPIase family.
SIMILARITY: Contains 1 PPIase cyclophilin-type domain.
SEQUENCE CAUTION: Sequence=AAC18041.1; Type=Frameshift; Positions=41; Sequence=AAC18042.1; Type=Frameshift; Positions=136; Sequence=AAH12117.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: CWC27
Diseases sorted by gene-association score: retinitis pigmentosa with or without skeletal anomalies* (919), retinitis pigmentosa (1)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.65 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 324.65 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 -72.60217-0.335 Picture PostScript Text
3' UTR -82.70429-0.193 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
IPR002130 - Cyclophilin-like_PPIase_dom
IPR020892 - Cyclophilin-type_PPIase_CS

Pfam Domains:
PF00160 - Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

SCOP Domains:
50891 - Cyclophilin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2HQ6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q6UX04
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0016853 isomerase activity
GO:0016018 cyclosporin A binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0000413 protein peptidyl-prolyl isomerization
GO:0006457 protein folding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0071012 catalytic step 1 spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  BX647971 - Homo sapiens mRNA; cDNA DKFZp686E2452 (from clone DKFZp686E2452).
AK225161 - Homo sapiens mRNA for serologically defined colon cancer antigen 10 variant, clone: CBR01914.
AK312954 - Homo sapiens cDNA, FLJ93410.
AK308223 - Homo sapiens cDNA, FLJ98171.
AK225105 - Homo sapiens mRNA for serologically defined colon cancer antigen 10 variant, clone: CAS07039.
AY358569 - Homo sapiens clone DNA50919 SDCCAG10 (UNQ438) mRNA, complete cds.
AF039692 - Homo sapiens antigen NY-CO-10 (NY-CO-10) mRNA, complete cds.
BC012117 - Homo sapiens serologically defined colon cancer antigen 10, mRNA (cDNA clone MGC:20141 IMAGE:4552442), complete cds.
KJ904648 - Synthetic construct Homo sapiens clone ccsbBroadEn_14042 CWC27-like gene, encodes complete protein.
AF039693 - Homo sapiens unknown protein mRNA, complete cds.
JD172522 - Sequence 153546 from Patent EP1572962.
JD497360 - Sequence 478384 from Patent EP1572962.
JD458945 - Sequence 439969 from Patent EP1572962.
JD389379 - Sequence 370403 from Patent EP1572962.
JD469267 - Sequence 450291 from Patent EP1572962.
JD507664 - Sequence 488688 from Patent EP1572962.
JD313444 - Sequence 294468 from Patent EP1572962.
JD177998 - Sequence 159022 from Patent EP1572962.
JD382023 - Sequence 363047 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6UX04 (Reactome details) participates in the following event(s):

R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72139 Formation of the active Spliceosomal C (B*) 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: CWC27 , CWC27_HUMAN, ENST00000381070.1, ENST00000381070.2, ENST00000381070.3, ENST00000381070.4, ENST00000381070.5, ENST00000381070.6, ENST00000381070.7, NM_005869, O60529, O60530, Q6UX04, Q96EM3, SDCCAG10 , uc318qad.1, uc318qad.2, UNQ438/PRO871
UCSC ID: ENST00000381070.8_4
RefSeq Accession: NM_005869.4
Protein: Q6UX04 (aka CWC27_HUMAN)

-  Gene Model Information
  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.