Mammalian protein found in humans
CTNNB1 Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1G3J , 1JDH , 1JPW , 1LUJ , 1P22 , 1QZ7 , 1T08 , 1TH1 , 2GL7 , 2Z6H , 3DIW , 3SL9 , 3SLA , 3TX7 , 4DJS , 3FQN , 3FQR
Identifiers Aliases CTNNB1 , CTNNB, MRD19, armadillo, catenin beta 1, EVR7, NEDSDVExternal IDs OMIM : 116806 ; MGI : 88276 ; HomoloGene : 1434 ; GeneCards : CTNNB1 ; OMA :CTNNB1 - orthologs Wikidata
Catenin beta-1 , also known as β-catenin (beta -catenin), is a protein that in humans is encoded by the CTNNB1 gene .
β-Catenin is a dual function protein , involved in regulation and coordination of cell–cell adhesion and gene transcription . In humans, the CTNNB1 protein is encoded by the CTNNB1 gene .[ 5] [ 6] In Drosophila , the homologous protein is called armadillo . β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway .[ 7] [ 8] [ 9] It is a member of the catenin protein family and homologous to γ-catenin , also known as plakoglobin . β-Catenin is widely expressed in many tissues. In cardiac muscle , β-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocytes .
Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma , colorectal carcinoma , lung cancer , malignant breast tumors , ovarian and endometrial cancer .[ 10] Alterations in the localization and expression levels of β-catenin have been associated with various forms of heart disease , including dilated cardiomyopathy . β-Catenin is regulated and destroyed by the beta-catenin destruction complex , and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene . Therefore, genetic mutation of the APC gene is also strongly linked to cancers, and in particular colorectal cancer resulting from familial adenomatous polyposis (FAP).
^ a b c GRCh38: Ensembl release 89: ENSG00000168036 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006932 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Kraus C, Liehr T, Hülsken J, Behrens J, Birchmeier W, Grzeschik KH, Ballhausen WG (September 1994). "Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development". Genomics . 23 (1): 272–274. doi :10.1006/geno.1994.1493 . PMID 7829088 .
^ MacDonald BT, Tamai K, He X (July 2009). "Wnt/beta-catenin signaling: components, mechanisms, and diseases" . Developmental Cell . 17 (1): 9–26. doi :10.1016/j.devcel.2009.06.016 . PMC 2861485 . PMID 19619488 .
^ Peifer M, Rauskolb C, Williams M, Riggleman B, Wieschaus E (April 1991). "The segment polarity gene armadillo interacts with the wingless signaling pathway in both embryonic and adult pattern formation". Development . 111 (4): 1029–1043. doi :10.1242/dev.111.4.1029 . PMID 1879348 .
^ Noordermeer J, Klingensmith J, Perrimon N, Nusse R (January 1994). "dishevelled and armadillo act in the wingless signalling pathway in Drosophila". Nature . 367 (6458): 80–83. Bibcode :1994Natur.367...80N . doi :10.1038/367080a0 . PMID 7906389 . S2CID 4275610 .
^ Peifer M, Berg S, Reynolds AB (March 1994). "A repeating amino acid motif shared by proteins with diverse cellular roles". Cell . 76 (5): 789–791. doi :10.1016/0092-8674(94)90353-0 . PMID 7907279 . S2CID 26528190 .
^ Morin PJ (December 1999). "beta-catenin signaling and cancer". BioEssays . 21 (12): 1021–1030. doi :10.1002/(SICI)1521-1878(199912)22:1<1021::AID-BIES6>3.0.CO;2-P . PMID 10580987 . S2CID 86240312 .