Target intelligence / Profile preview

Spliceosome-associated protein CWC27 homolog (CWC27)

Target
CWC27
Molecular classification
Other (spliceosome-associated protein), Peptidyl-prolyl isomerase family (inactive)
01

Overview

Spliceosome-associated protein CWC27 homolog (CWC27) is a nuclear protein involved as a component of the spliceosome, particularly the activated (B^act) complex, critical for pre-mRNA splicing[1][2][3][5]. CWC27 interacts with CWC22 to create a molecular platform that recruits the exon junction complex (EJC) core member eIF4A3, orchestrating later splicing events[2][3]. While CWC27 belongs to the cyclophilin peptidyl-prolyl cis-trans isomerase family, it is predicted to lack catalytic activity but retains proline-binding capacity, suggesting a scaffolding role for spliceosome assembly rather than enzymatic activity[1][2][3][5]. Loss-of-function mutations, especially in the C-terminal region, cause autosomal recessive retinal degeneration in humans and mice, often alongside other developmental anomalies[1][3][5]. In cancer (notably bladder), increased CWC27 expression correlates with enhanced proliferation and reduced apoptosis[1]. There are currently no known small-molecule drugs directly targeting CWC27, and its primary relevance is as a core component of gene expression regulation and a disease-associated gene rather than a classic therapeutic target[1][2][3][5].

Other names
SDCCAG10NY-CO-10Serologically defined colon cancer antigen 10RPSKASpliceosome-associated protein CWC27 homologPPIase CWC27PPIase SDCCAG10Antigen NY-CO-10Probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog
02

Biological functions

Pre-mRNA splicingProtein–protein interaction platform in spliceosomeCellular homeostasisProtein folding (predicted)
03

Disease associations

Retinal degenerationDevelopmental defects (including skeletal anomalies, short stature, neurological impairments)Cancer (association with increased expression and cell proliferation in bladder cancer)
04

Safety considerations

Mutation leads to "spliceosomopathy" phenotypes, including severe developmental and neurological outcomesEssential for normal splicing and viability (loss is embryonically lethal in mice)
05

Biomarkers

Mutation (including truncating mutations) as a biomarker for syndromic and non-syndromic retinal degenerationOverexpression as a potential biomarker in bladder cancer

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