Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CTNNB1 (Catenin, beta-1)

Identity

Other namesCadherin-associated protein, beta
HGNC (Hugo) CTNNB1
LocusID (NCBI) 1499
Location 3p22.1
Location_base_pair Starts at 41240942 and ends at 41281939 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  CTNNB1 (3p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

 
Description The gene encompasses 23.2kb of DNA ; 16 exons (the first is non-coding).
Transcription 3362 nucleotides mRNA ; 2343 bp open reading frame. Alternative splicing within exon 16 produces a splice variant that is 159 bp shorter in the 3' untranslated region.

Protein

 
Description 781 amino acids ; 92 kDa protein. Can be phosphorylated ; contains from N-term to C-term, a phosphorylation site by the serine-threonine glycogen synthase kinase -3b(GSK-3b), an a-catenin binding site, 13 armadillo repeats and a transactivating domain.
Expression Widely expressed.
Localisation Cytoplasm and nucleus
Function Important functions in the E-cadherin-mediated cell-cell adhesion system and also as a dowstream signaling molecule in the Wnt pathway. Cytoplasmic accumulation of b catenin allows it to translocate to the nucleus to form complexes with transcription factors of the T cell factor-lymphoid enhancer factor (Tcf-Lef) family. b-catenin is assumed to transactivate mostly unknown target genes, which may stimulate cell proliferation (acts as an oncogene) or inhibit apoptosis. The b-catenin level in the cell is regulated by its association with the adenomatous polyposis coli ( APC) tumor suppressor protein, axin and GSK-3b. Phosphorylation of b-catenin by the APC-axin-GSK-3b complex leads to its degradation by the ubiquitin-proteasome system.
Homology The b-catenin protein shares 70 % amino acid identity with both plakoglobin (intracellular junction in desmosomes) and the product of the Drosphila segment polarity gene "armadillo".

Mutations

Somatic Two mechanisms underlying the increase in b-catenin levels by stabilizing b-catenin are known. One is inactivating mutation in the APC gene, the other is activating mutation at the GSK-3b phosphorylation sites within exon 3 of the b-catenin gene.
b-catenin plays a key role in the development of colorectal cancer and has been found mutated in colorectal cancer cell lines. b-catenin aberration is a frequent event in the development of hepatocellular carcinoma and may facilitate its development in the course of chronic hepatitis. b-catenin has also been found mutated in hepatoblastoma, ovarian carcinoma, medulloblastoma, pilomatricoma as well as in melanoma cell lines.

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004 rhabID5004 blad5001
bladID5001 colon5006 colonID5006

External links

Nomenclature
HGNC (Hugo)CTNNB1   2514
Cards
AtlasCTNNB1ID71
Entrez_Gene (NCBI)CTNNB1  1499  catenin (cadherin-associated protein), beta 1, 88kDa
GeneCards (Weizmann)CTNNB1
Ensembl (Hinxton)ENSG00000168036 [Gene_View]  chr3:41240942-41281939 [Contig_View]  CTNNB1 [Vega]
ICGC DataPortalENSG00000168036
cBioPortalCTNNB1
AceView (NCBI)CTNNB1
Genatlas (Paris)CTNNB1
WikiGenes1499
SOURCE (Princeton)NM_001098209 NM_001098210 NM_001904
Genomic and cartography
GoldenPath (UCSC)CTNNB1  -  3p22.1   chr3:41240942-41281939 +  3p21   [Description]    (hg19-Feb_2009)
EnsemblCTNNB1 - 3p21 [CytoView]
Mapping of homologs : NCBICTNNB1 [Mapview]
OMIM114550   116806   132600   167000   615075   
Gene and transcription
Genbank (Entrez)AB062292 AB451264 AB451392 AK095242 AK289932
RefSeq transcript (Entrez)NM_001098209 NM_001098210 NM_001904
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_013302 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)CTNNB1
Cluster EST : UnigeneHs.476018 [ NCBI ]
CGAP (NCI)Hs.476018
Alternative Splicing : Fast-db (Paris)GSHG0020726
Alternative Splicing GalleryENSG00000168036
Gene ExpressionCTNNB1 [ NCBI-GEO ]     CTNNB1 [ SEEK ]   CTNNB1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35222 (Uniprot)
NextProtP35222  [Medical]
With graphics : InterProP35222
Splice isoforms : SwissVarP35222 (Swissvar)
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like [organisation]   ARM-type_fold [organisation]   Armadillo [organisation]   Beta-catenin [organisation]  
Related proteins : CluSTrP35222
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
DMDM Disease mutations1499
Blocks (Seattle)P35222
PDB (SRS)1G3J    1JDH    1JPW    1LUJ    1P22    1QZ7    1T08    1TH1    2G57    2GL7    2Z6H    3DIW    3FQN    3FQR    3SL9    3SLA    3TX7    4DJS   
PDB (PDBSum)1G3J    1JDH    1JPW    1LUJ    1P22    1QZ7    1T08    1TH1    2G57    2GL7    2Z6H    3DIW    3FQN    3FQR    3SL9    3SLA    3TX7    4DJS   
PDB (IMB)1G3J    1JDH    1JPW    1LUJ    1P22    1QZ7    1T08    1TH1    2G57    2GL7    2Z6H    3DIW    3FQN    3FQR    3SL9    3SLA    3TX7    4DJS   
PDB (RSDB)1G3J    1JDH    1JPW    1LUJ    1P22    1QZ7    1T08    1TH1    2G57    2GL7    2Z6H    3DIW    3FQN    3FQR    3SL9    3SLA    3TX7    4DJS   
Human Protein AtlasENSG00000168036 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP35222
HPRD00286
IPIIPI00017292   IPI00978637   IPI00927799   IPI00925425   IPI00924834   IPI00925083   IPI00926114   IPI00924607   
Protein Interaction databases
DIP (DOE-UCLA)P35222
IntAct (EBI)P35222
FunCoupENSG00000168036
BioGRIDCTNNB1
InParanoidP35222
Interologous Interaction database P35222
IntegromeDBCTNNB1
STRING (EMBL)CTNNB1
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  embryonic axis specification  spindle pole  RNA polymerase II activating transcription factor binding  patterning of blood vessels  patterning of blood vessels  branching involved in ureteric bud morphogenesis  in utero embryonic development  gastrulation with mouth forming second  cell fate specification  endodermal cell fate commitment  neuron migration  epithelial to mesenchymal transition  neural plate development  liver development  positive regulation of neuroblast proliferation  positive regulation of mesenchymal cell proliferation  lens morphogenesis in camera-type eye  negative regulation of heart induction by canonical Wnt signaling pathway  regulation of secondary heart field cardioblast proliferation  mesenchymal to epithelial transition involved in metanephros morphogenesis  chromatin binding  double-stranded DNA binding  sequence-specific DNA binding transcription factor activity  transcription coactivator activity  transcription coactivator activity  signal transducer activity  structural molecule activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  centrosome  cytosol  cytosol  plasma membrane  cell-cell junction  adherens junction  cell-cell adherens junction  zonula adherens  fascia adherens  cell cortex  transcription, DNA-templated  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cytoskeletal anchoring at plasma membrane  cell adhesion  cell-matrix adhesion  ectoderm development  glial cell fate determination  midgut development  protein C-terminus binding  transcription factor binding  transcription factor binding  negative regulation of cell proliferation  cytoplasmic side of plasma membrane  anterior/posterior axis specification  dorsal/ventral axis specification  proximal/distal pattern formation  positive regulation of epithelial to mesenchymal transition  positive regulation of heparan sulfate proteoglycan biosynthetic process  Schwann cell proliferation  membrane  Wnt signaling pathway  basolateral plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  catenin complex  enzyme binding  kinase binding  protein kinase binding  protein phosphatase binding  layer formation in cerebral cortex  central nervous system vasculogenesis  Z disc  lamellipodium  cell junction  cell junction  desmosome  osteoclast differentiation  embryonic limb morphogenesis  estrogen receptor binding  androgen receptor signaling pathway  male genitalia development  beta-catenin destruction complex  hindbrain development  regulation of centriole-centriole cohesion  pancreas development  hair follicle morphogenesis  microvillus membrane  regulation of myelination  negative regulation of chondrocyte differentiation  response to estradiol  protein complex binding  positive regulation of type I interferon production  protein-DNA complex  T cell differentiation in thymus  negative regulation of protein sumoylation  response to cytokine  adherens junction assembly  protein localization to cell surface  Scrib-APC-beta-catenin complex  embryonic heart tube development  genitalia morphogenesis  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  ionotropic glutamate receptor binding  nuclear hormone receptor binding  nuclear hormone receptor binding  hair cell differentiation  embryonic skeletal limb joint morphogenesis  regulation of T cell proliferation  odontogenesis of dentin-containing tooth  response to drug  muscle cell differentiation  embryonic digit morphogenesis  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  positive regulation of MAPK cascade  tongue morphogenesis  transcription regulatory region DNA binding  ion channel binding  canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition  canonical Wnt signaling pathway involved in negative regulation of apoptotic process  innate immune response  apical part of cell  synapse  alpha-catenin binding  cadherin binding  myoblast differentiation  bone resorption  positive regulation of endothelial cell differentiation  positive regulation of osteoblast differentiation  negative regulation of osteoclast differentiation  positive regulation of fibroblast growth factor receptor signaling pathway  regulation of angiogenesis  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  response to cadmium ion  regulation of fibroblast proliferation  determination of dorsal/ventral asymmetry  cell maturation  perinuclear region of cytoplasm  synaptic vesicle transport  thymus development  oocyte development  embryonic foregut morphogenesis  regulation of smooth muscle cell proliferation  negative regulation of oligodendrocyte differentiation  androgen receptor binding  synapse organization  smooth muscle cell differentiation  positive regulation of muscle cell differentiation  protein heterooligomerization  oviduct development  canonical Wnt signaling pathway  trachea formation  epithelial tube branching involved in lung morphogenesis  lung cell differentiation  lung-associated mesenchyme development  lung induction  epithelial cell differentiation involved in prostate gland development  positive regulation of epithelial cell proliferation involved in prostate gland development  hair follicle placode formation  mesenchymal cell proliferation involved in lung development  positive regulation of branching involved in lung morphogenesis  endothelial tube morphogenesis  fungiform papilla formation  canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation  extracellular vesicular exosome  beta-catenin-TCF7L2 complex  I-SMAD binding  R-SMAD binding  repressing transcription factor binding  regulation of centromeric sister chromatid cohesion  cellular response to mechanical stimulus  cellular response to growth factor stimulus  cellular response to indole-3-methanol  cell periphery  renal vesicle formation  renal inner medulla development  renal outer medulla development  nephron tubule formation  regulation of nephron tubule epithelial cell differentiation  regulation of calcium ion import  regulation of protein localization to cell surface  positive regulation of determination of dorsal identity  negative regulation of apoptotic signaling pathway  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  embryonic axis specification  spindle pole  RNA polymerase II activating transcription factor binding  patterning of blood vessels  patterning of blood vessels  branching involved in ureteric bud morphogenesis  in utero embryonic development  gastrulation with mouth forming second  cell fate specification  endodermal cell fate commitment  neuron migration  epithelial to mesenchymal transition  neural plate development  liver development  positive regulation of neuroblast proliferation  positive regulation of mesenchymal cell proliferation  lens morphogenesis in camera-type eye  negative regulation of heart induction by canonical Wnt signaling pathway  regulation of secondary heart field cardioblast proliferation  mesenchymal to epithelial transition involved in metanephros morphogenesis  chromatin binding  double-stranded DNA binding  sequence-specific DNA binding transcription factor activity  transcription coactivator activity  transcription coactivator activity  signal transducer activity  structural molecule activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  centrosome  cytosol  cytosol  plasma membrane  cell-cell junction  adherens junction  cell-cell adherens junction  zonula adherens  fascia adherens  cell cortex  transcription, DNA-templated  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  cytoskeletal anchoring at plasma membrane  cell adhesion  cell-matrix adhesion  ectoderm development  glial cell fate determination  midgut development  protein C-terminus binding  transcription factor binding  transcription factor binding  negative regulation of cell proliferation  cytoplasmic side of plasma membrane  anterior/posterior axis specification  dorsal/ventral axis specification  proximal/distal pattern formation  positive regulation of epithelial to mesenchymal transition  positive regulation of heparan sulfate proteoglycan biosynthetic process  Schwann cell proliferation  membrane  Wnt signaling pathway  basolateral plasma membrane  lateral plasma membrane  single organismal cell-cell adhesion  catenin complex  enzyme binding  kinase binding  protein kinase binding  protein phosphatase binding  layer formation in cerebral cortex  central nervous system vasculogenesis  Z disc  lamellipodium  cell junction  cell junction  desmosome  osteoclast differentiation  embryonic limb morphogenesis  estrogen receptor binding  androgen receptor signaling pathway  male genitalia development  beta-catenin destruction complex  hindbrain development  regulation of centriole-centriole cohesion  pancreas development  hair follicle morphogenesis  microvillus membrane  regulation of myelination  negative regulation of chondrocyte differentiation  response to estradiol  protein complex binding  positive regulation of type I interferon production  protein-DNA complex  T cell differentiation in thymus  negative regulation of protein sumoylation  response to cytokine  adherens junction assembly  protein localization to cell surface  Scrib-APC-beta-catenin complex  embryonic heart tube development  genitalia morphogenesis  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  ionotropic glutamate receptor binding  nuclear hormone receptor binding  nuclear hormone receptor binding  hair cell differentiation  embryonic skeletal limb joint morphogenesis  regulation of T cell proliferation  odontogenesis of dentin-containing tooth  response to drug  muscle cell differentiation  embryonic digit morphogenesis  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  positive regulation of MAPK cascade  tongue morphogenesis  transcription regulatory region DNA binding  ion channel binding  canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition  canonical Wnt signaling pathway involved in negative regulation of apoptotic process  innate immune response  apical part of cell  synapse  alpha-catenin binding  cadherin binding  myoblast differentiation  bone resorption  positive regulation of endothelial cell differentiation  positive regulation of osteoblast differentiation  negative regulation of osteoclast differentiation  positive regulation of fibroblast growth factor receptor signaling pathway  regulation of angiogenesis  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  response to cadmium ion  regulation of fibroblast proliferation  determination of dorsal/ventral asymmetry  cell maturation  perinuclear region of cytoplasm  synaptic vesicle transport  thymus development  oocyte development  embryonic foregut morphogenesis  regulation of smooth muscle cell proliferation  negative regulation of oligodendrocyte differentiation  androgen receptor binding  synapse organization  smooth muscle cell differentiation  positive regulation of muscle cell differentiation  protein heterooligomerization  oviduct development  canonical Wnt signaling pathway  trachea formation  epithelial tube branching involved in lung morphogenesis  lung cell differentiation  lung-associated mesenchyme development  lung induction  epithelial cell differentiation involved in prostate gland development  positive regulation of epithelial cell proliferation involved in prostate gland development  hair follicle placode formation  mesenchymal cell proliferation involved in lung development  positive regulation of branching involved in lung morphogenesis  endothelial tube morphogenesis  fungiform papilla formation  canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation  extracellular vesicular exosome  beta-catenin-TCF7L2 complex  I-SMAD binding  R-SMAD binding  repressing transcription factor binding  regulation of centromeric sister chromatid cohesion  cellular response to mechanical stimulus  cellular response to growth factor stimulus  cellular response to indole-3-methanol  cell periphery  renal vesicle formation  renal inner medulla development  renal outer medulla development  nephron tubule formation  regulation of nephron tubule epithelial cell differentiation  regulation of calcium ion import  regulation of protein localization to cell surface  positive regulation of determination of dorsal identity  negative regulation of apoptotic signaling pathway  
Pathways : BIOCARTACell to Cell Adhesion Signaling [Genes]    Multi-step Regulation of Transcription by Pitx2 [Genes]    ALK in cardiac myocytes [Genes]    Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]    Presenilin action in Notch and Wnt signaling [Genes]    WNT Signaling Pathway [Genes]    Trefoil Factors Initiate Mucosal Healing [Genes]   
Pathways : KEGGRap1 signaling pathway    Wnt signaling pathway    Hippo signaling pathway    Focal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Melanogenesis    Thyroid hormone signaling pathway    Bacterial invasion of epithelial cells    Pathogenic Escherichia coli infection    HTLV-I infection    Pathways in cancer    Proteoglycans in cancer    Colorectal cancer    Endometrial cancer    Prostate cancer    Thyroid cancer    Basal cell carcinoma    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
Protein Interaction DatabaseCTNNB1
Wikipedia pathwaysCTNNB1
Gene fusion - rearrangments
Rearrangement : COSMICCTNNB1 [3p22.1]  -  PLAG1 [8q12.1]  
  [COSF1077] [COSF1078] [COSF1079] [COSF1080] 
Rearrangement : COSMICPLAG1 [8q12.1]  -  CTNNB1 [3p22.1]  
  [COSF1081] [COSF1082] [COSF1083] [COSF1084] 
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CTNNB1
snp3D : Map Gene to Disease1499
SNP (GeneSNP Utah)CTNNB1
SNP : HGBaseCTNNB1
Genetic variants : HAPMAPCTNNB1
Exome VariantCTNNB1
1000_GenomesCTNNB1 
ICGC programENSG00000168036 
Cancer Gene: CensusCTNNB1 
Somatic Mutations in Cancer : COSMICCTNNB1 
CONAN: Copy Number AnalysisCTNNB1 
Mutations and Diseases : HGMDCTNNB1
Mutations and Diseases : intOGenCTNNB1
Genomic VariantsCTNNB1  CTNNB1 [DGVbeta]
dbVarCTNNB1
ClinVarCTNNB1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM114550    116806    132600    167000    615075   
MedgenCTNNB1
GENETestsCTNNB1
Disease Genetic AssociationCTNNB1
Huge Navigator CTNNB1 [HugePedia]  CTNNB1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCTNNB1
Homology/Alignments : Family Browser (UCSC)CTNNB1
Phylogenetic Trees/Animal Genes : TreeFamCTNNB1
Chemical/Protein Interactions : CTD1499
Chemical/Pharm GKB GenePA27013
Drug Sensitivity CTNNB1
Clinical trialCTNNB1
Cancer Resource (Charite)ENSG00000168036
Other databases
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=CTNNB1
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineCTNNB1
iHOPCTNNB1
OncoSearchCTNNB1

Bibliography

Association of the APC tumor suppressor protein with catenins.
Su LK, Vogelstein B, Kinzler KW
Science (New York, N.Y.). 1993 ; 262 (5140) : 1734-1737.
PMID 8259519
 
Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development.
Kraus C, Liehr T, Hˆºlsken J, Behrens J, Birchmeier W, Grzeschik KH, Ballhausen WG
Genomics. 1994 ; 23 (1) : 272-274.
PMID 7829088
 
Yeast artificial chromosome cloning of the beta-catenin locus on human chromosome 3p21-22.
Bailey A, Norris AL, Leek JP, Clissold PM, Carr IM, Ogilvie DJ, Morrison JF, Meredith DM, Markham AF
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 1995 ; 3 (3) : 201-203.
PMID 7780664
 
Signal transduction of beta-catenin.
Gumbiner BM
Current opinion in cell biology. 1995 ; 7 (5) : 634-640.
PMID 8573337
 
The gene for the APC-binding protein beta-catenin (CTNNB1) maps to chromosome 3p22, a region frequently altered in human malignancies.
Trent JM, Wiltshire R, Su LK, Nicolaides NC, Vogelstein B, Kinzler KW
Cytogenetics and cell genetics. 1995 ; 71 (4) : 343-344.
PMID 8521721
 
Assignment of the human beta-catenin gene (CTNNB1) to 3p22-->p21.3 by fluorescence in situ hybridization.
van Hengel J, Nollet F, Berx G, van Roy N, Speleman F, van Roy F
Cytogenetics and cell genetics. 1995 ; 70 (1-2) : 68-70.
PMID 7736793
 
Functional interaction of beta-catenin with the transcription factor LEF-1.
Behrens J, von Kries JP, Kˆºhl M, Bruhn L, Wedlich D, Grosschedl R, Birchmeier W
Nature. 1996 ; 382 (6592) : 638-642.
PMID 8757136
 
Nuclear localization of beta-catenin by interaction with transcription factor LEF-1.
Huber O, Korn R, McLaughlin J, Ohsugi M, Herrmann BG, Kemler R
Mechanisms of development. 1996 ; 59 (1) : 3-10.
PMID 8892228
 
Genomic organization of the human beta-catenin gene (CTNNB1).
Nollet F, Berx G, Molemans F, van Roy F
Genomics. 1996 ; 32 (3) : 413-424.
PMID 8838805
 
Binding of GSK3beta to the APC-beta-catenin complex and regulation of complex assembly.
Rubinfeld B, Albert I, Porfiri E, Fiol C, Munemitsu S, Polakis P
Science (New York, N.Y.). 1996 ; 272 (5264) : 1023-1026.
PMID 8638126
 
beta-catenin is a target for the ubiquitin-proteasome pathway.
Aberle H, Bauer A, Stappert J, Kispert A, Kemler R
The EMBO journal. 1997 ; 16 (13) : 3797-3804.
PMID 9233789
 
Beta-catenin mutations in cell lines established from human colorectal cancers.
Ilyas M, Tomlinson IP, Rowan A, Pignatelli M, Bodmer WF
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (19) : 10330-10334.
PMID 9294210
 
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC.
Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, Kinzler KW
Science (New York, N.Y.). 1997 ; 275 (5307) : 1787-1790.
PMID 9065402
 
Loss of beta-catenin regulation by the APC tumor suppressor protein correlates with loss of structure due to common somatic mutations of the gene.
Rubinfeld B, Albert I, Porfiri E, Munemitsu S, Polakis P
Cancer research. 1997 ; 57 (20) : 4624-4630.
PMID 9377578
 
Stabilization of beta-catenin by genetic defects in melanoma cell lines.
Rubinfeld B, Robbins P, El-Gamil M, Albert I, Porfiri E, Polakis P
Science (New York, N.Y.). 1997 ; 275 (5307) : 1790-1792.
PMID 9065403
 
Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta.
Behrens J, Jerchow BA, Wˆºrtele M, Grimm J, Asbrand C, Wirtz R, Kˆºhl M, Wedlich D, Birchmeier W
Science (New York, N.Y.). 1998 ; 280 (5363) : 596-599.
PMID 9554852
 
Somatic mutations of the beta-catenin gene are frequent in mouse and human hepatocellular carcinomas.
de La Coste A, Romagnolo B, Billuart P, Renard CA, Buendia MA, Soubrane O, Fabre M, Chelly J, Beldjord C, Kahn A, Perret C
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (15) : 8847-8851.
PMID 9671767
 
Nuclear localization signal-independent and importin/karyopherin-independent nuclear import of beta-catenin.
Fagotto F, Glˆºck U, Gumbiner BM
Current biology : CB. 1998 ; 8 (4) : 181-190.
PMID 9501980
 
Downregulation of beta-catenin by human Axin and its association with the APC tumor suppressor, beta-catenin and GSK3 beta.
Hart MJ, de los Santos R, Albert IN, Rubinfeld B, Polakis P
Current biology : CB. 1998 ; 8 (10) : 573-581.
PMID 9601641
 
Axin, a negative regulator of the Wnt signaling pathway, forms a complex with GSK-3beta and beta-catenin and promotes GSK-3beta-dependent phosphorylation of beta-catenin.
Ikeda S, Kishida S, Yamamoto H, Murai H, Koyama S, Kikuchi A
The EMBO journal. 1998 ; 17 (5) : 1371-1384.
PMID 9482734
 
Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations.
Iwao K, Nakamori S, Kameyama M, Imaoka S, Kinoshita M, Fukui T, Ishiguro S, Nakamura Y, Miyoshi Y
Cancer research. 1998 ; 58 (5) : 1021-1026.
PMID 9500465
 
Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer.
Sparks AB, Morin PJ, Vogelstein B, Kinzler KW
Cancer research. 1998 ; 58 (6) : 1130-1134.
PMID 9515795
 
Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma.
Blˆ§ker H, Hofmann WJ, Rieker RJ, Penzel R, Graf M, Otto HF
Genes, chromosomes & cancer. 1999 ; 25 (4) : 399-402.
PMID 10398436
 
A common human skin tumour is caused by activating mutations in beta-catenin.
Chan EF, Gat U, McNiff JM, Fuchs E
Nature genetics. 1999 ; 21 (4) : 410-413.
PMID 10192393
 
The metalloproteinase matrilysin is a target of beta-catenin transactivation in intestinal tumors.
Crawford HC, Fingleton BM, Rudolph-Owen LA, Goss KJ, Rubinfeld B, Polakis P, Matrisian LM
Oncogene. 1999 ; 18 (18) : 2883-2891.
PMID 10362259
 
Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene.
Harada N, Tamai Y, Ishikawa T, Sauer B, Takaku K, Oshima M, Taketo MM
The EMBO journal. 1999 ; 18 (21) : 5931-5942.
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Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene.
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Written03-2002Brigitte Debuire, Antoinette Lemoine and Raphael Saffroy
Service de Biochimie et Biologie moléculaire, Hôpital Universitaire Paul Brousse, UPRES 1596-Faculté de Médecine Paris-Sud, 14 avenue Paul Vaillant Couturier, 94804 Villejuif Cedex, France

Citation

This paper should be referenced as such :
Debuire, B ; Lemoine, A ; Saffroy, R
CTNNB1 (catenin, beta-1)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):180-183.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/CTNNB1ID71.html

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