CTNNBL1


Description

The CTNNBL1 (catenin beta like 1) is a protein-coding gene located on chromosome 20.

Beta-catenin-like protein 1 is a protein encoded by the CTNNBL1 gene in humans. This protein features various domains, including an acidic domain, a putative bipartite nuclear localization signal, a nuclear export signal, a leucine-isoleucine zipper, and phosphorylation motifs. It also contains Armadillo/beta-catenin-like repeats, suggesting a role in protein-protein interactions. Although its exact function remains unknown, the C-terminal portion has demonstrated apoptosis-inducing activity. This gene is classified as a housekeeping gene.

CTNNBL1 is a component of the PRP19-CDC5L complex, a crucial part of the spliceosome essential for activating pre-mRNA splicing. It plays a role in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR), two processes leading to the production of high-affinity, mutated isotype-switched antibodies.

CTNNBL1 is also known as C20orf33, IMD99, NAP, P14L, PP8304, dJ633O20.1.

Associated Diseases



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