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FLASH GENE
Symbol CTNNB1 contributors: shn/npt/pgu - updated : 21-07-2011
HGNC name catenin (cadherin-associated protein), beta 1, 88kDa
HGNC id 2514
Location 3p22.1      Physical location : 41.240.941 - 41.281.939
Synonym name beta-catenin
Synonym symbol(s) CTNNB, DKFZp686D02253, FLJ25606, FLJ37923
DNA
TYPE functioning gene
STRUCTURE 41.00 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site   hormone
text structure
  • a major site for transcription initiation was identified as an A residue 214 nucleotides upstream of the ATG initiation codon
  • potential binding sites for several transcription factors, such as NF kappa B, SP1, AP2, and EGR1
    • MAPPING cloned Y linked N status provisional
    Map pter - D3S3522 - D3S3658 - CTNNB1 - D3S2407- D3S3563 - cen By FISH and analysis of somatic cell hybrids the CTNNB1 gene has been mapped to 3p21
    Physical map
    MYRIP 3p21.3 myosin VIIA and Rab interacting protein GC20 3p21.33 translation factor sui1 homolog ENTPD3 3p21.3 ectonucleoside triphosphate diphosphohydrolase 3 RPL14 3p23-p21.2 ribosomal protein L14 FLJ90764 3p21.33 hypothetical protein FLJ90764 MGC50836 3p21.33 hypothetical protein MGC50836 FLJ45246 3p21.33 FLJ45246 protein LOC344682 3p21.33 similar to Elongation factor 1-gamma (EF-1-gamma) (eEF-1B gamma) LOC389112 3 similar to ribosomal protein S27 MRPS31P1 3p21.33 mitochondrial ribosomal protein S31 pseudogene 1 CTNNB1 3p22-p21.3 catenin (cadherin-associated protein), beta 1, 88kDa DKFZp434E1822 3p21.33 hypothetical protein DKFZp434E1822 FLJ20574 3p21.33 hypothetical protein FLJ20574 LOC391529 3 similar to SMN interacting protein1-beta OIP106 3p25.3-p24.1 similar to SMN interacting protein1-beta CCK 3p22.1-p21.3 cholecystokinin LOC391530 3 similar to SALL4B MGC26768 3p21.33 hypothetical protein MGC26768 VIPR1 3p22 vasoactive intestinal peptide receptor 1 SEC22L3 3p24.3-p22.1 SEC22 vesicle trafficking protein-like 3 (S. cerevisiae) SS18L2 3p21 synovial sarcoma translocation gene on chromosome 18-like 2 NKTR 3p23-p21 natural killer-tumor recognition sequence KIAA1190 3p21.33 hypothetical protein KIAA1190 KBTBD5 3p21.33 kelch repeat and BTB (POZ) domain containing 5 KIAA1173 3p21.33 KIAA1173 protein FLJ25467 3p21.33 hypothetical protein FLJ25467 HIG1 3p21.33 likely ortholog of mouse hypoxia induced gene 1 CCBP2 3p21.32-p21.31 chemokine binding protein 2
    RNA
    TRANSCRIPTS type messenger
    text Variants 1, 2, 3 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 3720 88 781 - 1995 7702605
    16 splicing 3256 88 781 - 1995 7702605
    16 splicing 3415 88 781 - 1995 7702605
    EXPRESSION
    Rna function mRNAs were abundant in both dorsolateral prefrontal cortex and hippocampus, with a distinct neuronal localization, and also abundant in the granule cells of the dentate gyrus and pyramidal cells of Ammon horn
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   predominantly
    Lymphoid/Immunethymus   highly
    Nervousbrainforebraincerebral cortexfrontal cortexpredominantly Homo sapiens
     brainlimbic systemhippocampus predominantly Homo sapiens
     brainmidbrainhypothalamus predominantly
     braindiencephalonamygdala highly
     brainbasal nucleistriatum predominantly
    Respiratoryrespiratory tracttrachea  predominantly
    Urinarybladder   highly
    Visualeyeretina   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 12 armadillo repeat sequences
    • HOMOLOGY
    interspecies ortholog to Ctnnb1, Mus musculus
    ortholog to ctnnb1, Danio renio
    ortholog to Ctnnb1, Rattus norvegicus
    ortholog to CTNNB1, Pan troglodytes
    Homologene
    FAMILY
  • beta-catenin family
    • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • beta-catenin protein is implicated in signal transduction and associates with both the cell adhesion protein E-cadherin and the tumor suppressor gene product APC
  • have dual cellular functions, as a component of both the cadherin-catenin cell adhesion complex and the Wnt signaling pathway
  • having functions in signal transduction in the Wnt signalling pathway, which is implicated in hair follicle (HF) morphogenesis
  • the beta-catenin and TCF control the expression of the EphB2/EphB3 receptors and their ligand, ephrin B1 in colorectal cancer and along the crypt-villus axis
  • beta-catenin can function in the decision of precursors to proliferate or differentiate during mammalian neuronal development and can regulate cerebral cortical size by controlling the generation of neuronal precursor cells
  • In rat, the beta-catenin is a mediator of dendritic development
  • In mouse, beta-catenin activity in neural crest cells promoted the formation of sensory neural cells in vivo at the expense of virtually all other neural crest derivatives
  • beta-catenin has a role in establishing bipolar mitotic spindles
  • the cadherin-beta catenin complex is involved in synapse development and modulation of synaptic connectivity and activity
  • having a functional role during proliferation of islet-derived precursor cells and activated beta-catenin signalling may also be important during islet-derived precursor cells derivation from islets
  • beta-catenin may has a general role in the synaptic remodeling and stabilization underlying long-term memory in adult mice
  • role in signalling of postnatal brain plasticity
  • regulates midbrain dopaminergic neurogenesis
  • mediates AMH signaling for Müllerian duct regression during male sexual differentiation
  • important role of a novel signalling pathway mediated by PRKCA-HDAC6-CTNNB1 in controlling IRF3-mediated transcription
  • its signaling in sertoli cells downregulates spermatogonial stem cell activity via WNT4
  • CTNND1, CTNNB1 have distinct but complementary roles in strengthening cadherin-mediated adhesion
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    key component of Wnt signalling
    a component
  • ARHGEF7 forms a complex with cadherin, CTNNB1, and SCRIB at synapses and enhances localized actin polymerization in rat hippocampal neurons
    • INTERACTION
    DNA
  • beta-catenin activates transcription from the cyclin D1 promoter
  • The beta-catenin induces expression of PKD1 gene
  • The beta-catenin-TCF4 complex binds the enhancer region of the GLCE promoter
    • RNA
    small molecule
    protein
  • interacting with ERBB2 (ERBB2-induced signaling is also directly liked to the cadherin-mediated cell adhesion and "invasion-suppressor" system through CTNNB1 and plakoglobin in cancers)
  • RUVBL2 interaction partner (binds beta-catenin in the region of Armadillo repeats 2-5 and, more importantly, also binds the TATA box binding protein, and involved in the nuclear function of beta-catenin)
  • beta-catenin forms a 1:1 heterodimer with alpha-catenin
  • in normal retina tissues and in retinoblstoma, beta-catenin is associated with N-cadherin
  • 14-3-3-zeta protein
  • beta-catenin interacts with FOXO transcription factors
  • beta-catenin is required for osteoblast lineage differentiation
  • interacting with DKK3 (is a negative regulator of beta-catenin and its downregulation contribute to an activation of the beta-catenin signaling pathway)
  • ZEB1 is an effector of CTNNB1/TCF4 signaling in epithelial-to-mesenchymal transition and tumor progression
  • stimulates KCNA5 and thus participates in the shaping of the cardiac action potential and further KCNA5 sensitive cellular functions
  • ARRB1 is a nuclear transcriptional regulator of EDN1-induced CTNNB1 signaling
  • CDH5 interacts with CTNND1and CTNNB1 through its cytoplasmic tail
  • WNT/RSPO1/CTNNB1 signals control axonal sorting and lineage progression in Schwann cell development
    • cell & other
    REGULATION
    repressed by APC gene
    the transcription factor E2F1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    missense mutations in exon-3 associated to histologically, a more aggressive hepatocellular carcinoma (also, mutations might lead to HCC in the absence of cirrhosis)
    tumoral germinal mutation      
    highly common in desmoid tumors (patients harboring CTNNB1 (45F) mutations are at particular risk for recurrence)
    tumoral somatic mutation      
    in ovarian malignant transformation with a characteristic phenotype: endometrioid ovarian carcinoma
    tumoral somatic mutation      
    in HNPCC tumors existed within the regulatory domain of beta-catenin
    tumoral     --over  
    beta-catenin accumulation may play a role in the development of hepatoblastoma and activating mutations may substitute biallelic APC inactivation in this tumor type
    tumoral germinal mutation      
    in pilomatricomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of exon 3 in beta -catenine mice leads to adenomatous intestinal polyps resembling those in Apc knockout mice
  • Transgenic mice that overproduced an oncogenic form of beta-catenin in the epithelial cells of the kidney developed severe polycystic lesions
  • inactivation of mouse beta-catenin leads to ectopic formation of chondrocytes at the expense of osteoblast differentiation during both intramembranous and endochondral ossification
  • conditional inactivation of mouse beta-catenin blocks the differentiation and the development of osteoblast precursors into chondrocytes
  • conditional deletion of beta-catenin in mouse proepicardium led to impaired formation of coronary arteries. Mutant mice exhibited impaired epicardial development, including failed expansion of the subepicardial space, blunted invasion of the myocardium, and impaired differentiation of epicardium-derived mesenchymal cells into coronary smooth muscle cells
  • mice carrying CTNNB1 loss-of-function mutations show a delay in axonal sorting