WBP11
Function
Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity.
Involvement in disease
Vertebral, cardiac, tracheoesophageal, renal, and limb defects
VCTRL
An autosomal dominant disorder with incomplete penetrance and variable expressivity, characterized by cardiac, vertebral, tracheo-esophageal, renal and limb defects. Some patients also exhibit craniofacial abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous. Highly expressed in the heart, pancreas, kidney skeletal muscle, placenta and brain (at protein level). Weakly expressed in liver and lung.
Cellular localization
- Nucleus
- Cytoplasm
- Predominantly located in the nucleus with granular heterogeneous distribution. Excluded from nucleoli in interphase cells, distributed throughout cytoplasm in dividing cells. Colocalized with SC35 and U2B in the nucleus. In the cytoplasm, associates with the intermediate filament protein vimentin.
Alternative names
NPWBP, SIPP1, SNP70, WBP11, WW domain-binding protein 11, WBP-11, Npw38-binding protein, SH3 domain-binding protein SNP70, Splicing factor that interacts with PQBP-1 and PP1, NpwBP