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CTNNB1 (catenin beta 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1499
Gene nameGene Name - the full gene name approved by the HGNC.
Catenin beta 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CTNNB1
SynonymsGene synonyms aliases
CTNNB, EVR7, MRD19, NEDSDV, armadillo
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.1
SummarySummary of gene provided in NCBI Entrez 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28931588 G>A,C,T Pathogenic, other, likely-pathogenic Missense variant, coding sequence variant
rs28931589 G>A,C,T Uncertain-significance, pathogenic, other, likely-pathogenic Missense variant, coding sequence variant
rs77064436 T>C,G Likely-pathogenic Coding sequence variant, missense variant
rs121913228 T>C,G Likely-pathogenic Missense variant, coding sequence variant
rs121913394 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001175 hsa-miR-200a-3p qRT-PCR, Luciferase reporter assay, Western blot 19703993
MIRT001175 hsa-miR-200a-3p Luciferase reporter assay, qRT-PCR, Western blot, Reporter assay;Western blot;qRT-PCR 19931509
MIRT001175 hsa-miR-200a-3p Luciferase reporter assay, qRT-PCR, Western blot, Flow 22211245
MIRT001175 hsa-miR-200a-3p Luciferase reporter assay 26878281
MIRT001175 hsa-miR-200a-3p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 28302418
Transcription factors
Transcription factor Regulation Reference
AR Activation 18535113
ESR1 Repression 16628468
LEF1 Unknown 11326276
NELFCD Repression 20735431
NKX2-5 Unknown 19479054
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 29374064
GO:0000791 Component Euchromatin IDA 22723415
GO:0000922 Component Spindle pole IEA
GO:0001085 Function RNA polymerase II transcription factor binding IDA 12651860, 18193033, 18579517
GO:0001085 Function RNA polymerase II transcription factor binding IPI 18936100
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P35222
Protein name Catenin beta-1 (Beta-catenin)
Protein function Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). 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 (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). 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 (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity).
PDB 1G3J , 1JDH , 1JPW , 1LUJ , 1P22 , 1QZ7 , 1T08 , 1TH1 , 2G57 , 2GL7 , 2Z6H , 3DIW , 3FQN , 3FQR , 3SL9 , 3SLA , 3TX7 , 4DJS , 6M90 , 6M91 , 6M92 , 6M93 , 6M94 , 6O9B , 6O9C , 6WLX , 6WNX , 7AFW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm
224 263
Armadillo/beta-catenin-like repeat
Repeat
PF00514 Arm
350 390
Armadillo/beta-catenin-like repeat
Repeat
PF00514 Arm
431 473
Armadillo/beta-catenin-like repeat
Repeat
PF00514 Arm
583 623
Armadillo/beta-catenin-like repeat
Repeat
Sequence
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS
QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
VKMLGSPVDSVLFYAITTLHNLL
LHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSD
AATKQEGMEGLLGTLVQLLGSDDINVVTCA
AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
QLLYSPIENIQRVAAGVLCELAQ
DKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH
SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
L
Sequence length 781
Interactions View interactions

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