CTNNB1 CTNNB OK/SW-cl.35 PRO2286

CTNNB1 ;
CTNNB ;
OK/SW-cl.35 ;
Catenin beta-1 ;
Beta-catenin

disease:A chromosomal rearrangement involving CTNNB1 may be a cause of salivary gland pleiomorphic adenomas (PA) [181030]. Pleiomorphic adenomas are the most common benign epithelial tumors of the salivary gland. Translocation t (3;8) (p21;q12) with PLAG1. ,disease:Activating mutations in CTNNB1 have oncogenic activity resulting in tumor development. Somatic mutations are found in various tumor types , including colon cancers , ovarian and prostate carcinomas , hepatoblastoma (HB) , hepatocellular carcinoma (HCC) . HBs are malignant embryonal tumors mainly affecting young children in the first three years of life. ,disease:Defects in CTNNB1 are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant , invasive embryonal tumor of the cerebellum with a preferential manifestation in children. ,disease:Defects in CTNNB1 are a cause of pilomatrixoma (PTR) [MIM:132600]; a common benign skin tumor. ,disease:Defects in CTNNB1 are associated with colorectal cancer (CRC) [MIM:114500]. ,disease:Defects in CTNNB1 are associated with ovarian cancer [MIM:167000]. Ovarian cancer is the leading cause of death from gynecologic malignancy. It is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases. These typical features relate to the biology of the disease , which is a principal determinant of outcome. ,function:Involved in the regulation of cell adhesion and in signal transduction through the Wnt pathway. ,online information:Beta-catenin entry ,PTM:EGF stimulates tyrosine phosphorylation. Phosphorylation on Tyr-654 decreases CDH1 binding and enhances TBP binding. ,PTM:Phosphorylation by GSK3B requires prior phosphorylation of Ser-45 by another kinase. Phosphorylation proceeds then from Thr-41 to Ser-37 and Ser-33. ,PTM:Ubiquitinated by a E3 ubiquitin ligase complex containing UBE2D1 , SIAH1 , CACYBP/SIP , SKP1A , APC and TBL1X (Probable) . Its ubiquitination leads to its subsequent proteasomal degradation. ,similarity:Belongs to the beta-catenin family. ,similarity:Contains 12 ARM repeats. ,subcellular location:Cytoplasmic when it is unstabilized (high level of phosphorylation) or bound to CDH1. Translocates to the nucleus when it is stabilized (low level of phosphorylation) . Interaction with GLIS2 and MUC1 promotes nuclear translocation. ,subunit:Two separate pools are found in the cytoplasm: one is PSEN1/cadherin/catenin complex which anchors to the actin cytoskeleton. The other pool is part of a large complex containing 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. Wnt-dependent activation of DVL antagonizes the action of GSK3B. When GSK3B activity is inhibited the complex dissociates , CTNNB1 is dephosphorylated and is no longer targeted for destruction. The stabilized protein translocates to the nucleus , where it binds TCF/LEF-1 family members , TBP , BCL9 and possibly also RUVBL1 and CHD8. Binds CTNNBIP and EP300. CTNNB1 forms a ternary complex with LEF1 and EP300 that is disrupted by CTNNBIP1 binding (By similarity) . Interacts with TAX1BP3 (via the PDZ domain) ; this interaction inhibits the transcriptional activity of CTNNB1 (By similarity) . Interacts with AJAP1 , BAIAP1 , CARM1 , CTNNA3 , CXADR and PCDH11Y. Binds SLC9A3R1. Interacts with GLIS2 and MUC1. Interacts with SLC30A9. Interacts with XIRP1 (By similarity) . Interacts with PTPRU (via the cytoplasmic juxtamembrane domain) . ,tissue specificity:Expressed in several hair follicle cell types: basal and peripheral matrix cells , and cells of the outer and inner root sheats. Expressed in colon. ,

negative regulation of transcription from RNA polymerase II promoter , microtubule cytoskeleton organization ,embryonic axis specification , cell morphogenesis , cell morphogenesis involved in differentiation , skeletal system development , angiogenesis , blood vessel development , patterning of blood vessels , eye development , gastrulation with mouth forming second , formation of primary germ layer , endoderm formation , cell fate specification , cell fate determination , endodermal cell fate commitment , morphogenesis of a branching structure , cell activation , epithelial to mesenchymal transition , liver development , tissue homeostasis , vasculature development , morphogenesis of an epithelium , immune system development , leukocyte differentiation , regulation of myeloid leukocyte differentiation ,negative regulation of myeloid leukocyte differentiation , regionalization , transcription , regulation of transcription , DNA-dependent , regulation of transcription from RNA polymerase II promoter , protein complex assembly , apoptosis ,cytoskeleton organization , microtubule-based process , cell cycle , centrosome cycle , cell adhesion , cell-matrix adhesion ,cell surface receptor linked signal transduction , intracellular signaling cascade , cell-cell signaling , synaptic transmission , gastrulation , pattern specification process , ectoderm development , glial cell fate determination , sensory organ development , endoderm development , midgut development , heart development , protein localization , cell death ,cell proliferation , response to endogenous stimulus , response to hormone stimulus , axis specification , embryonic pattern specification , negative regulation of biosynthetic process , positive regulation of biosynthetic process ,anterior/posterior axis specification , dorsal/ventral axis specification , anterior/posterior pattern formation ,dorsal/ventral pattern formation , proximal/distal pattern formation , positive regulation of signal transduction , glial cell differentiation , response to organic substance , response to inorganic substance , response to metal ion , regulation of specific transcription from RNA polymerase II promoter , positive regulation of specific transcription from RNA polymerase II promoter , positive regulation of macromolecule biosynthetic process , negative regulation of macromolecule biosynthetic process , regulation of glycoprotein biosynthetic process , positive regulation of glycoprotein biosynthetic process , positive regulation of macromolecule metabolic process , negative regulation of macromolecule metabolic process , regulation of protein kinase cascade , positive regulation of gene expression ,negative regulation of gene expression , positive regulation of cell communication , positive regulation of protein kinase cascade , regulation of heparan sulfate proteoglycan biosynthetic process , positive regulation of heparan sulfate proteoglycan biosynthetic process , programmed cell death , glial cell proliferation , Schwann cell proliferation ,mesenchymal cell development , response to organic cyclic substance , Wnt receptor signaling pathway , vesicle-mediated transport , death , morphogenesis of embryonic epithelium , cell-cell adhesion , negative regulation of transcription , transmission of nerve impulse , developmental maturation , glial cell fate commitment , cell cycle process ,biological adhesion , hemopoiesis , lymphocyte differentiation , T cell differentiation , regulation of ossification , respiratory tube development , lung development , embryonic limb morphogenesis , steroid hormone receptor signaling pathway ,androgen receptor signaling pathway , intracellular receptor-mediated signaling pathway , regulation of epithelial cell differentiation , positive regulation of epithelial cell differentiation , forebrain development , regulation of centriole-centriole cohesion , pancreas development , microtubule organizing center organization , negative regulation of cellular biosynthetic process , positive regulation of cellular biosynthetic process , cell-substrate adhesion , regulation of chondrocyte differentiation , negative regulation of chondrocyte differentiation , regulation of gene-specific transcription , regulation of microtubule-based process , cellular component morphogenesis , regulation of organelle organization , T cell differentiation in the thymus , response to cytokine stimulus , cellular protein localization ,appendage morphogenesis , limb morphogenesis , embryonic appendage morphogenesis , embryonic forelimb morphogenesis , embryonic hindlimb morphogenesis , embryonic arm morphogenesis , forelimb morphogenesis , hindlimb morphogenesis , arm morphogenesis , tube morphogenesis , tube development , gliogenesis , T cell activation , regulation of cell proliferation , odontogenesis of dentine-containing tooth , odontogenesis , homeostatic process , muscle cell differentiation , embryonic digit morphogenesis , regulation of sulfur metabolic process , camera-type eye development ,extracellular structure organization , positive regulation of gene-specific transcription , regulation of MAPKKK cascade ,positive regulation of MAPKKK cascade , response to estrogen stimulus , macromolecular complex subunit organization ,cell fate commitment , leukocyte activation , myoblast differentiation , regulation of transcription , bone resorption ,negative regulation of cell differentiation , positive regulation of cell differentiation , regulation of myeloid cell differentiation , negative regulation of myeloid cell differentiation , regulation of osteoblast differentiation , positive regulation of osteoblast differentiation , regulation of osteoclast differentiation , negative regulation of osteoclast differentiation , negative regulation of transcription , DNA-dependent , positive regulation of transcription , DNA-dependent , negative regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , positive regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , positive regulation of transcription , positive regulation of transcription from RNA polymerase II promoter , lymphocyte activation , response to cadmium ion , bone remodeling , cell maturation , synaptic vesicle transport , blood vessel morphogenesis , hemopoietic or lymphoid organ development , thymus development , response to steroid hormone stimulus , gut development , eye morphogenesis , camera-type eye morphogenesis , embryonic morphogenesis , tissue morphogenesis , appendage development , branching morphogenesis of a tube , mesenchymal cell differentiation , tissue remodeling , multicellular organismal homeostasis , synapse organization , neurological system process , positive regulation of developmental process , negative regulation of nitrogen compound metabolic process , positive regulation of nitrogen compound metabolic process , positive regulation of sulfur metabolic process , regulation of RNA metabolic process , negative regulation of RNA metabolic process , positive regulation of RNA metabolic process , protein oligomerization , protein heterooligomerization , centrosome organization , regulation of cytoskeleton organization , Wnt receptor signaling pathway through beta-catenin , limb development , anatomical structure homeostasis , epithelium development ,mesenchyme development , respiratory system development , macromolecular complex assembly , protein complex biogenesis , regulation of microtubule cytoskeleton organization , cellular macromolecule localization ,

Cytoplasm . Nucleus . Cytoplasm , cytoskeleton . Cell junction , adherens junction . Cell junction . Cell membrane . Cytoplasm , cytoskeleton , microtubule organizing center , centrosome. Cytoplasm , cytoskeleton , spindle pole. Cell junction , synapse . Cytoplasm , cytoskeleton , cilium basal body . Colocalized with RAPGEF2 and TJP1 at cell-cell contacts (By similarity) . Cytoplasmic when it is unstabilized (high level of phosphorylation) or bound to CDH1. Translocates to the nucleus when it is stabilized (low level of phosphorylation) . Interaction with GLIS2 and MUC1 promotes nuclear translocation. Interaction with EMD inhibits nuclear localization. The majority of beta-catenin is localized to the cell membrane. In interphase , colocalizes with CROCC between CEP250 puncta at the proximal end of centrioles , and this localization is dependent on CROCC and CEP250. In mitosis , when NEK2 activity increases , it localizes to centrosomes at spindle poles independent of CROCC. Colocalizes with CDK5 in the cell-cell contacts and plasma membrane of undifferentiated and differentiated neuroblastoma cells. Interaction with FAM53B promotes translocation to the nucleus (PubMed:25183871) . .