CTNNBL1
Domain
The surface residues of the concave side of the superhelical ARM repeat region contribute to, but are not essential for NLS binding.
Function
Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR), 2 processes resulting in the production of high-affinity, mutated isotype-switched antibodies (PubMed:32484799).
Involvement in disease
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
IMD99
An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid.
Cellular localization
- Isoform 1
- Nucleus
- Isoform 2
- Cytoplasm
Alternative names
C20orf33, PP8304, CTNNBL1, Beta-catenin-like protein 1, Nuclear-associated protein, Testis development protein NYD-SP19, NAP