Aliases for CTNNB1 Gene
External Ids for CTNNB1 Gene
Previous HGNC Symbols for CTNNB1 Gene
Previous GeneCards Identifiers for CTNNB1 Gene
The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009]
GeneCards Summary for CTNNB1 Gene
CTNNB1 (Catenin (Cadherin-Associated Protein), Beta 1, 88kDa) is a Protein Coding gene. Diseases associated with CTNNB1 include colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas and severe intellectual disability-progressive spastic diplegia syndrome. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and binding. An important paralog of this gene is JUP.
UniProtKB/Swiss-Prot for CTNNB1 Gene
Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity).
beta-catenin protein is an integral part of the canonical Wnt signaling pathway. Wnt binding to Frizzled (Fz) receptors and LRP co-receptors activates Dishevelled (Dsh) proteins; these in turn inhibit the destruction complex responsible for degrading beta-catenin, which includes GSK-3.