Human Gene CTNNB1 (uc003ckr.2) Description and Page Index
  Description: Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.
RefSeq Summary (NM_001904): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:41,240,942-41,281,939 Size: 40,998 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr3:41,265,560-41,280,833 Size: 15,274 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:41,240,942-41,281,939)mRNA (may differ from genome)Protein (781 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MGIneXtProtOMIMPubMedReactomeStanford SOURCE
TreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CTNB1_HUMAN
DESCRIPTION: RecName: Full=Catenin beta-1; AltName: Full=Beta-catenin;
FUNCTION: Key downstream component of the canonical Wnt signaling pathway. 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. 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. Involved in the regulation of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2.
SUBUNIT: Two separate complex-associated pools are found in the cytoplasm. The majority is present as component of an E-cadherin/ catenin adhesion complex composed of at least E-cadherin/CDH1 and beta-catenin/CTNNB1, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F- actin when assembled in the complex. Alternatively, the CTNNA1- containing complex may be linked to F-actin by other proteins such as LIMA1. Another cytoplasmic 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 directly with AXIN1; the interaction is regulated by CDK2 phosphorylation of AXIN1 (By similarity). Interacts with SCRIB (By similarity). Interacts with PTPRU (via the cytoplasmic juxtamembrane domain). Interacts with EMD. Interacts with TNIK and TCF7L2. Interacts with SESTD1 and TRPC4. Interacts with CAV1. Interacts with TRPV4. The TRPV4 and CTNNB1 complex can interact with CDH1. Interacts with VCL (By similarity). Interacts with PTPRJ. Interacts with PKT7 and CDK2. Interacts with FAT1 (via the cytoplasmic domain) (By similarity). Interacts with NANOS1 and NDRG2. Interacts with isoform 1 of NEK2. Interacts with both isoform 1 and isoform 2 of CDK5. Interacts with PTK6. Interacts with SOX7; this interaction may lead to proteasomal degradation of active CTNNB1 and thus inhibition of Wnt/beta-catenin-stimulated transcription.
INTERACTION: O43707:ACTN4; NbExp=6; IntAct=EBI-491549, EBI-351526; P25054:APC; NbExp=7; IntAct=EBI-491549, EBI-727707; P10275:AR; NbExp=8; IntAct=EBI-491549, EBI-608057; O15169:AXIN1; NbExp=20; IntAct=EBI-491549, EBI-710484; O00512:BCL9; NbExp=2; IntAct=EBI-491549, EBI-533127; P33724:CAV1 (xeno); NbExp=5; IntAct=EBI-491549, EBI-79998; Q6P1J9:CDC73; NbExp=9; IntAct=EBI-491549, EBI-930143; P12830:CDH1; NbExp=6; IntAct=EBI-491549, EBI-727477; P26231:Ctnna1 (xeno); NbExp=2; IntAct=EBI-491549, EBI-647895; Q9NSA3:CTNNBIP1; NbExp=6; IntAct=EBI-491549, EBI-747082; Q9NYF0:DACT1; NbExp=3; IntAct=EBI-491549, EBI-3951744; Q9UKB1:FBXW11; NbExp=2; IntAct=EBI-491549, EBI-355189; Q08050:FOXM1; NbExp=16; IntAct=EBI-491549, EBI-866480; P49841:GSK3B; NbExp=3; IntAct=EBI-491549, EBI-373586; P18012:ipaC (xeno); NbExp=4; IntAct=EBI-491563, EBI-491541; Q14678:KANK1; NbExp=2; IntAct=EBI-491549, EBI-2556221; Q2LD37:KIAA1109; NbExp=2; IntAct=EBI-491549, EBI-2683809; Q8WVC0:LEO1; NbExp=2; IntAct=EBI-491549, EBI-932432; P49768:PSEN1; NbExp=2; IntAct=EBI-491549, EBI-297277; Q13761:RUNX3; NbExp=12; IntAct=EBI-491549, EBI-925990; Q9NQB0:TCF7L2; NbExp=27; IntAct=EBI-491549, EBI-924724; P11388:TOP2A; NbExp=5; IntAct=EBI-491549, EBI-539628;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell junction. Cell membrane. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=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. Co-localizes with CDK5 in the cell-cell contacts and plasma membrane of undifferentiated and differentiated neuroblastoma cells.
TISSUE SPECIFICITY: Expressed in several hair follicle cell types: basal and peripheral matrix cells, and cells of the outer and inner root sheaths. Expressed in colon. Present in cortical neurons (at protein level).
PTM: Phosphorylation at Ser-552 by AMPK promotes stabilizion of the protein, enhancing TCF/LEF-mediated transcription (By similarity). Phosphorylation by GSK3B requires prior phosphorylation of Ser-45 by another kinase. Phosphorylation proceeds then from Thr-41 to Ser-37 and Ser-33. Phosphorylated by NEK2. EGF stimulates tyrosine phosphorylation. Phosphorylation on Tyr-654 decreases CDH1 binding and enhances TBP binding. Phosphorylated on Ser-33 and Ser-37 by HIPK2. This phosphorylation triggers proteasomal degradation. Phosphorylation on Ser-191 and Ser-246 by CDK5. Phosphorylation by CDK2 regulates insulin internalization. Phosphorylation by PTK6 at Tyr-64, Tyr-142, Tyr- 331 and/or Tyr-333 with the predominant site at Tyr-64 is not essential for inhibition of transcriptional activity.
PTM: Ubiquitinated by the SCF(BTRC) E3 ligase complex when phosphorylated by GSK3B, leading to its degradation. Ubiquitinated by a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X, leading to its subsequent proteasomal degradation (By similarity).
DISEASE: Defects in CTNNB1 are associated with colorectal cancer (CRC) [MIM:114500].
DISEASE: Note=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 pilomatrixoma (PTR) [MIM:132600]; a common benign skin tumor.
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 susceptibility to ovarian cancer (OC) [MIM:167000]. Ovarian cancer common malignancy originating from ovarian tissue. Although many histologic types of ovarian neoplasms have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late- stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.
DISEASE: Note=A chromosomal aberration involving CTNNB1 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1.
DISEASE: Defects in CTNNB1 may be a cause of mesothelioma malignant (MESOM) [MIM:156240]. An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos.
SIMILARITY: Belongs to the beta-catenin family.
SIMILARITY: Contains 12 ARM repeats.
SEQUENCE CAUTION: Sequence=BAB93475.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CTNNB1ID71.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ctnnb1/";
WEB RESOURCE: Name=Wikipedia; Note=Beta-catenin entry; URL="http://en.wikipedia.org/wiki/Beta-catenin";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CTNNB1
CDC HuGE Published Literature: CTNNB1
Positive Disease Associations: Bone mineral density (hip) , high exposure to aflatoxin B1.
Related Studies:
  1. Bone mineral density (hip)
    Rivadeneira ,et al. 2009, Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies, Nature genetics 2009 41- 11 : 1199-206. [PubMed 19801982]
  2. high exposure to aflatoxin B1.
    Devereux TR et al. 2001, CTNNB1 mutations and beta-catenin protein accumulation in human hepatocellular carcinomas associated with high exposure to aflatoxin B1., Molecular carcinogenesis. 2001 Jun;31(2):68-73. [PubMed 11429783]

-  MalaCards Disease Associations
  MalaCards Gene Search: CTNNB1
Diseases sorted by gene-association score: mental retardation, autosomal dominant 19* (1679), colorectal cancer* (1428), colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas* (1175), exudative vitreoretinopathy 7* (900), medulloblastoma* (497), colonic benign neoplasm* (415), ovarian cancer, somatic* (412), craniopharyngioma* (380), desmoid disease, hereditary* (247), exudative vitreoretinopathy 1* (231), hepatocellular carcinoma* (189), exudative vitreoretinopathy* (145), papillary craniopharyngioma (31), familial adenomatous polyposis (28), desmoid tumor (26), adenoma (26), hepatoblastoma (25), osteoblastoma (22), fibromatosis (18), childhood hepatocellular carcinoma* (18), gastrointestinal system benign neoplasm (17), intestinal benign neoplasm (17), hair follicle neoplasm (17), atypical polypoid adenomyoma (16), gallbladder adenoma (15), classic pulmonary blastoma (15), hepatocellular adenoma (14), endometrial cancer (14), osteoporosis-pseudoglioma syndrome (14), small intestinal adenocarcinoma (12), adenomyoma (12), parkinson disease 8 (12), basal cell carcinoma (12), pseudosarcomatous fibromatosis (12), gastric adenocarcinoma (11), lobular neoplasia (11), adenomatous polyposis coli (11), simpson-golabi-behmel syndrome (11), colorectal adenoma (11), prostate cancer (11), birt-hogg-dube syndrome (11), adenocarcinoma (11), peutz-jeghers syndrome (10), hemimegalencephaly (10), adult hepatocellular carcinoma* (10), sclerosing hemangioma (10), hepatic adenoma, somatic (10), arrhythmogenic right ventricular cardiomyopathy (10), sarcoma, synovial (9), pulmonary sclerosing hemangioma (9), central nervous system organ benign neoplasm (9), ureteral obstruction (9), colitis (9), fibroma (9), colon adenocarcinoma (9), female reproductive endometrioid cancer (8), atypical teratoid rhabdoid tumor (8), skin pilomatrix carcinoma (8), townes-brocks syndrome (8), breast ductal carcinoma (8), polycystic kidney disease 1 (8), breast cancer (8), frozen shoulder (8), lung acinar adenocarcinoma (8), ulcerative colitis (8), uterine carcinosarcoma (8), primary pigmented nodular adrenocortical disease (8), acinar cell carcinoma (7), gastrointestinal system cancer (7), chondroma (7), oral squamous cell carcinoma (7), pancreatic ductal adenocarcinoma (7), cell type benign neoplasm (7), tongue squamous cell carcinoma (7), goblet cell carcinoid (7), mismatch repair cancer syndrome (7), adamantinous craniopharyngioma (7), colorectal adenocarcinoma (6), esophageal basaloid squamous cell carcinoma (6), cystitis cystica (6), intrahepatic cholangiocarcinoma (6), parathyroid adenoma (6), psammomatous meningioma (6), polymorphous low-grade adenocarcinoma (5), endometrial adenocarcinoma (5), wilms tumor susceptibility-5 (5), epstein-barr virus-associated gastric carcinoma (5), embryonal sarcoma (5), sclerosteosis 2 (5), vulvar intraepithelial neoplasia (5), conventional fibrosarcoma (5), nodular medulloblastoma (5), thyroid cancer (5), clear cell adenoma (5), strabismus (5), signet ring cell adenocarcinoma (5), craniodiaphyseal dysplasia (4), pancreatic cancer (4), integumentary system benign neoplasm (4), organ system benign neoplasm (4), juxtacortical chondroma (4), periosteal chondrosarcoma (4), arrhythmogenic right ventricular dysplasia 5 (4), infratentorial cancer (4), ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (4), focal segmental glomerulosclerosis (4), cardiomyopathy, dilated, 1e (4), persistent mullerian duct syndrome (4), gallbladder cancer (3), melanoma (3), neuroblastoma (3), esophageal cancer (3), stomach cancer (3), brain cancer (3), lung cancer (3), urinary bladder cancer (2), intellectual disability (2), cell type cancer (2), adamantinoma of long bones (2), lung cancer susceptibility 3 (2), reproductive organ cancer (1), female reproductive organ cancer (1), gastric cancer, somatic (1), pancreas adenocarcinoma (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 88.31 RPKM in Cervix - Endocervix
Total median expression: 2377.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -104.86268-0.391 Picture PostScript Text
3' UTR -267.101106-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000225 - Armadillo
IPR013284 - Beta-catenin

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat

SCOP Domains:
48371 - ARM repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1G3J
- X-ray MuPIT

1JDH
- X-ray MuPIT

1JPW
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1LUJ - X-ray MuPIT 1P22 - X-ray MuPIT 1QZ7 - X-ray MuPIT
1T08 - X-ray MuPIT 1TH1 - X-ray MuPIT 2G57 - NMR
2GL7 - X-ray MuPIT 2Z6H - X-ray MuPIT 3DIW - X-ray
3FQN - X-ray MuPIT 3FQR - X-ray MuPIT 3SL9 - X-ray MuPIT
3SLA - X-ray MuPIT 3TX7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35222
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0019900 kinase binding
GO:0019901 protein kinase binding
GO:0019903 protein phosphatase binding
GO:0030331 estrogen receptor binding
GO:0035257 nuclear hormone receptor binding
GO:0044325 ion channel binding
GO:0045294 alpha-catenin binding
GO:0045296 cadherin binding
GO:0046332 SMAD binding
GO:0046982 protein heterodimerization activity
GO:0050681 androgen receptor binding
GO:0070411 I-SMAD binding
GO:0070491 repressing transcription factor binding
GO:0097718 disordered domain specific binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000578 embryonic axis specification
GO:0000904 cell morphogenesis involved in differentiation
GO:0001501 skeletal system development
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001570 vasculogenesis
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001701 in utero embryonic development
GO:0001702 gastrulation with mouth forming second
GO:0001706 endoderm formation
GO:0001708 cell fate specification
GO:0001709 cell fate determination
GO:0001711 endodermal cell fate commitment
GO:0001764 neuron migration
GO:0001822 kidney development
GO:0001837 epithelial to mesenchymal transition
GO:0001840 neural plate development
GO:0001944 vasculature development
GO:0002052 positive regulation of neuroblast proliferation
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0002089 lens morphogenesis in camera-type eye
GO:0003266 regulation of secondary heart field cardioblast proliferation
GO:0003338 metanephros morphogenesis
GO:0003340 negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007268 chemical synaptic transmission
GO:0007398 ectoderm development
GO:0007399 nervous system development
GO:0007403 glial cell fate determination
GO:0007507 heart development
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009948 anterior/posterior axis specification
GO:0009950 dorsal/ventral axis specification
GO:0009953 dorsal/ventral pattern formation
GO:0009954 proximal/distal pattern formation
GO:0009987 cellular process
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010909 positive regulation of heparan sulfate proteoglycan biosynthetic process
GO:0016055 Wnt signaling pathway
GO:0016331 morphogenesis of embryonic epithelium
GO:0016525 negative regulation of angiogenesis
GO:0019827 stem cell population maintenance
GO:0021819 layer formation in cerebral cortex
GO:0022009 central nervous system vasculogenesis
GO:0022405 hair cycle process
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030217 T cell differentiation
GO:0030316 osteoclast differentiation
GO:0030324 lung development
GO:0030521 androgen receptor signaling pathway
GO:0030539 male genitalia development
GO:0030856 regulation of epithelial cell differentiation
GO:0030858 positive regulation of epithelial cell differentiation
GO:0030900 forebrain development
GO:0030901 midbrain development
GO:0030902 hindbrain development
GO:0030997 regulation of centriole-centriole cohesion
GO:0031016 pancreas development
GO:0031069 hair follicle morphogenesis
GO:0031641 regulation of myelination
GO:0032212 positive regulation of telomere maintenance via telomerase
GO:0032331 negative regulation of chondrocyte differentiation
GO:0032355 response to estradiol
GO:0032481 positive regulation of type I interferon production
GO:0033077 T cell differentiation in thymus
GO:0033234 negative regulation of protein sumoylation
GO:0034332 adherens junction organization
GO:0034333 adherens junction assembly
GO:0034394 protein localization to cell surface
GO:0034613 cellular protein localization
GO:0035050 embryonic heart tube development
GO:0035112 genitalia morphogenesis
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035315 hair cell differentiation
GO:0035635 entry of bacterium into host cell
GO:0036023 embryonic skeletal limb joint morphogenesis
GO:0042127 regulation of cell proliferation
GO:0042129 regulation of T cell proliferation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042493 response to drug
GO:0042733 embryonic digit morphogenesis
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043410 positive regulation of MAPK cascade
GO:0043525 positive regulation of neuron apoptotic process
GO:0043588 skin development
GO:0044334 canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition
GO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process
GO:0045453 bone resorption
GO:0045595 regulation of cell differentiation
GO:0045596 negative regulation of cell differentiation
GO:0045603 positive regulation of endothelial cell differentiation
GO:0045667 regulation of osteoblast differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045670 regulation of osteoclast differentiation
GO:0045671 negative regulation of osteoclast differentiation
GO:0045743 positive regulation of fibroblast growth factor receptor signaling pathway
GO:0045765 regulation of angiogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0045976 negative regulation of mitotic cell cycle, embryonic
GO:0048096 chromatin-mediated maintenance of transcription
GO:0048145 regulation of fibroblast proliferation
GO:0048469 cell maturation
GO:0048489 synaptic vesicle transport
GO:0048513 animal organ development
GO:0048538 thymus development
GO:0048599 oocyte development
GO:0048617 embryonic foregut morphogenesis
GO:0048643 positive regulation of skeletal muscle tissue development
GO:0048660 regulation of smooth muscle cell proliferation
GO:0048715 negative regulation of oligodendrocyte differentiation
GO:0050767 regulation of neurogenesis
GO:0050808 synapse organization
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051145 smooth muscle cell differentiation
GO:0051149 positive regulation of muscle cell differentiation
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0051884 regulation of anagen
GO:0051973 positive regulation of telomerase activity
GO:0060066 oviduct development
GO:0060070 canonical Wnt signaling pathway
GO:0060173 limb development
GO:0060439 trachea morphogenesis
GO:0060440 trachea formation
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060479 lung cell differentiation
GO:0060484 lung-associated mesenchyme development
GO:0060492 lung induction
GO:0060548 negative regulation of cell death
GO:0060742 epithelial cell differentiation involved in prostate gland development
GO:0060769 positive regulation of epithelial cell proliferation involved in prostate gland development
GO:0060789 hair follicle placode formation
GO:0060916 mesenchymal cell proliferation involved in lung development
GO:0061047 positive regulation of branching involved in lung morphogenesis
GO:0061154 endothelial tube morphogenesis
GO:0061198 fungiform papilla formation
GO:0061324 canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation
GO:0061549 sympathetic ganglion development
GO:0061550 cranial ganglion development
GO:0070602 regulation of centromeric sister chromatid cohesion
GO:0071363 cellular response to growth factor stimulus
GO:0071681 cellular response to indole-3-methanol
GO:0072001 renal system development
GO:0072033 renal vesicle formation
GO:0072053 renal inner medulla development
GO:0072054 renal outer medulla development
GO:0072079 nephron tubule formation
GO:0072182 regulation of nephron tubule epithelial cell differentiation
GO:0090279 regulation of calcium ion import
GO:0098609 cell-cell adhesion
GO:1901215 negative regulation of neuron death
GO:1903204 negative regulation of oxidative stress-induced neuron death
GO:1904501 positive regulation of chromatin-mediated maintenance of transcription
GO:1904793 regulation of euchromatin binding
GO:1904796 regulation of core promoter binding
GO:1904798 positive regulation of core promoter binding
GO:1904837 beta-catenin-TCF complex assembly
GO:1904886 beta-catenin destruction complex disassembly
GO:1904888 cranial skeletal system development
GO:1904948 midbrain dopaminergic neuron differentiation
GO:1904954 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation
GO:1990138 neuron projection extension
GO:1990403 embryonic brain development
GO:1990791 dorsal root ganglion development
GO:2000008 regulation of protein localization to cell surface
GO:2000017 positive regulation of determination of dorsal identity
GO:2000144 positive regulation of DNA-templated transcription, initiation
GO:2001234 negative regulation of apoptotic signaling pathway

Cellular Component:
GO:0000922 spindle pole
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005719 nuclear euchromatin
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0005916 fascia adherens
GO:0005923 bicellular tight junction
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0016342 catenin complex
GO:0016600 flotillin complex
GO:0030018 Z disc
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0030877 beta-catenin destruction complex
GO:0031253 cell projection membrane
GO:0031528 microvillus membrane
GO:0032991 macromolecular complex
GO:0032993 protein-DNA complex
GO:0034750 Scrib-APC-beta-catenin complex
GO:0043296 apical junction complex
GO:0044798 nuclear transcription factor complex
GO:0045177 apical part of cell
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0070369 beta-catenin-TCF7L2 complex
GO:0071944 cell periphery
GO:1990907 beta-catenin-TCF complex
GO:1990909 Wnt signalosome


-  Descriptions from all associated GenBank mRNAs
  AK289932 - Homo sapiens cDNA FLJ78465 complete cds, highly similar to Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), mRNA.
AK294778 - Homo sapiens cDNA FLJ57878 complete cds, highly similar to Beta-catenin.
AK314776 - Homo sapiens cDNA, FLJ95646.
AK296790 - Homo sapiens cDNA FLJ59565 complete cds, highly similar to Beta-catenin.
X87838 - H.sapiens mRNA for beta-catenin.
Z19054 - H.sapiens of beta catenin gene.
BC058926 - Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa, mRNA (cDNA clone MGC:65131 IMAGE:6151332), complete cds.
JD191319 - Sequence 172343 from Patent EP1572962.
AK299954 - Homo sapiens cDNA FLJ59415 complete cds, highly similar to Beta-catenin.
JD441660 - Sequence 422684 from Patent EP1572962.
JD078805 - Sequence 59829 from Patent EP1572962.
JD443803 - Sequence 424827 from Patent EP1572962.
AB451392 - Homo sapiens CTNNB1 mRNA for catenin beta-1, partial cds, clone: FLJ08084AAAF.
AB463467 - Synthetic construct DNA, clone: pF1KB6277, Homo sapiens CTNNB1 gene for catenin (cadherin-associated protein) beta 1, without stop codon, in Flexi system.
EU446854 - Synthetic construct Homo sapiens clone IMAGE:100070227; IMAGE:100012063; FLH258229.01L catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1) gene, encodes complete protein.
AB451264 - Homo sapiens CTNNB1 mRNA for catenin beta-1, complete cds, clone: FLJ08084AAAN.
AB062292 - Homo sapiens OK/SW-cl.35 mRNA for catenin beta 1, complete cds.
AK098472 - Homo sapiens cDNA FLJ25606 fis, clone JTH14532, highly similar to BETA-CATENIN.
BX648430 - Homo sapiens mRNA; cDNA DKFZp686D02253 (from clone DKFZp686D02253).
JD026789 - Sequence 7813 from Patent EP1572962.
AK095242 - Homo sapiens cDNA FLJ37923 fis, clone CTONG1000283, weakly similar to BETA-CATENIN.
JD020993 - Sequence 2017 from Patent EP1572962.
JD024298 - Sequence 5322 from Patent EP1572962.
JD036195 - Sequence 17219 from Patent EP1572962.
JD023311 - Sequence 4335 from Patent EP1572962.
JD032519 - Sequence 13543 from Patent EP1572962.
JD027033 - Sequence 8057 from Patent EP1572962.
JD348564 - Sequence 329588 from Patent EP1572962.
JD170773 - Sequence 151797 from Patent EP1572962.
JD237640 - Sequence 218664 from Patent EP1572962.
JD504200 - Sequence 485224 from Patent EP1572962.
U38440 - Human clone JkA11 mRNA induced upon T-cell activation, 3' end.
MP095949 - Sequence 1 from Patent EP3436582.
LY641411 - KR 1020180124142-A/1963: NUCLEIC ACID-POLYPEPTIDE COMPOSITIONS AND USES THEREOF.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04510 - Focal adhesion
hsa04520 - Adherens junction
hsa04530 - Tight junction
hsa04670 - Leukocyte transendothelial migration
hsa04916 - Melanogenesis
hsa05100 - Bacterial invasion of epithelial cells
hsa05130 - Pathogenic Escherichia coli infection
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05213 - Endometrial cancer
hsa05215 - Prostate cancer
hsa05216 - Thyroid cancer
hsa05217 - Basal cell carcinoma
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)

BioCarta from NCI Cancer Genome Anatomy Project
h_cell2cellPathway - Cell to Cell Adhesion Signaling
h_pitx2Pathway - Multi-step Regulation of Transcription by Pitx2
h_alkPathway - ALK in cardiac myocytes
h_gsk3Pathway - Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_wntPathway - WNT Signaling Pathway
h_tffPathway - Trefoil Factors Initiate Mucosal Healing

Reactome (by CSHL, EBI, and GO)

Protein P35222 (Reactome details) participates in the following event(s):

R-HSA-202969 Caspase mediated cleavage of beta-catenin
R-HSA-195304 Association of beta-catenin with the destruction complex
R-HSA-3134901 LRR FLII-interacting protein 1 associates with beta-catenin
R-HSA-201685 Beta-catenin is released from the destruction complex
R-HSA-3134883 Beta-catenin enhances association of IRF3 with CBP/p300
R-HSA-3134904 Phosphorylation of beta-catenin at Ser552
R-HSA-3299569 Beta-catenin displaces TLE:HDAC1 from TCF/LEF
R-HSA-3769383 CBY1 binds beta-catenin
R-HSA-3772430 CTNNBIP1 binds beta-catenin
R-HSA-5368580 CHD8 binds beta-catenin to negatively regulate WNT-dependent gene expression
R-HSA-5626938 Beta-catenin binds SOX proteins
R-HSA-5672304 IQGAP1 binds CDH1:CTTNB1:CTTNA1 and MEN1
R-HSA-195318 Phosphorylation of beta-catenin at Ser45 by CK1 alpha
R-HSA-8876497 InlA binds CDH1
R-HSA-3364014 Recruitment of SET1 methyltransferase complex
R-HSA-201712 Beta-catenin:TCF associates with BCL9 and PYGO
R-HSA-3322422 Beta-catenin recruits SMARCA4
R-HSA-3322424 Beta-catenin recruits CDC73 and LEO1
R-HSA-3322427 Beta-catenin recruits CBP/p300
R-HSA-3451153 Beta-catenin recruits TRRAP/KAT5 HAT components
R-HSA-5665608 TCF:Beta-catenin binds SOX proteins
R-HSA-8944362 TCF/LEF:CTNNB1 bind canonical WNT target promoters
R-HSA-3769393 YWHAZ binds p-CBY:CTNNB1
R-HSA-3769394 AKT phosphorylates CBY1
R-HSA-4411367 TCF7L1/TCF7L2/LEF1:CTNNB1 bind the MYC gene
R-HSA-4411383 NLK phosphorylates TCF/LEF
R-HSA-4411351 TCF/LEF:CTNNB1 bind the AXIN2 gene
R-HSA-8951428 RUNX3 binds CTNNB1:TCF7L2,(LEF1,TCF7L1,TCF7)
R-HSA-8951442 CTNNB1:TCF7L2,LEF1 binds the CCND1 gene promoter
R-HSA-8876993 CBLL1 binds SRC-phosphorylated CDH1 complex
R-HSA-195287 Phosphorylation of phospho-(Ser45 ) at Thr 41 by GSK-3
R-HSA-195283 Phosphorylation of phospho- (Ser45, Thr41) beta-catenin at Ser37 by GSK-3
R-HSA-195300 Phosphorylation of phospho-(Ser45,Thr41,Ser37) at Ser33 by GSK-3
R-HSA-195275 Phosphorylation of APC component of the destruction complex
R-HSA-195280 Dissociation of beta-catenin from Axin and association of beta catenin with phospho-(20 aa) APC in the detruction complex
R-HSA-2130279 Association of beta-catenin with the RBX1:SCF(beta-TrCP1) ubiquitin ligase complex
R-HSA-3364026 SET1 complex trimethylates H3K4 at the MYC gene
R-NUL-3451144 KAT5 HAT complex acetylates TCF4 (ITF-2) gene at histone H4
R-HSA-3769391 XPO1 binds the beta-catenin:CBY complex
R-HSA-8877003 CBLL1 ubiqutinates the InlA-bound CDH1 complex
R-HSA-2130286 Multi-ubiquitination of phospho-beta-catenin by RBX1:SCF(beta-TrCP1)
R-HSA-419002 Interaction of cadherin with Beta/gamma catenin, alpha catenin and p120 catenin
R-HSA-375140 CDO binds promyogenic cadherins
R-HSA-3451147 KAT5 HAT complex acetylates TCF4 gene at histone H4
R-HSA-5357477 PAK1-3 phosphorylates VE-cadherin
R-HSA-376121 Bnip2 interacts with CDO complex
R-HSA-376119 Interaction of Bnip-2 with Cdc42
R-HSA-376117 JLP interacts with CDO complex
R-HSA-449200 Interaction of ABL1 with CDO complex
R-HSA-448957 Interaction of p38 MAPK with JLP
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-3134973 LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-5626467 RHO GTPases activate IQGAPs
R-HSA-196299 Beta-catenin phosphorylation cascade
R-HSA-8876493 InlA-mediated entry of Listeria monocytogenes into host cells
R-HSA-195721 Signaling by WNT
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-4086398 Ca2+ pathway
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-HSA-8951430 RUNX3 regulates WNT signaling
R-HSA-5339716 Misspliced GSK3beta mutants stabilize beta-catenin
R-HSA-75153 Apoptotic execution phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-8876384 Listeria monocytogenes entry into host cells
R-HSA-162582 Signal Transduction
R-HSA-168249 Innate Immune System
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-8878159 Transcriptional regulation by RUNX3
R-HSA-5358751 S45 mutants of beta-catenin aren't phosphorylated
R-HSA-5358752 T41 mutants of beta-catenin aren't phosphorylated
R-HSA-5358749 S37 mutants of beta-catenin aren't phosphorylated
R-HSA-5358747 S33 mutants of beta-catenin aren't phosphorylated
R-HSA-4791275 Signaling by WNT in cancer
R-HSA-418990 Adherens junctions interactions
R-HSA-109581 Apoptosis
R-HSA-194315 Signaling by Rho GTPases
R-HSA-5663205 Infectious disease
R-HSA-375170 CDO in myogenesis
R-HSA-168256 Immune System
R-HSA-212436 Generic Transcription Pathway
R-HSA-4839743 phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
R-HSA-5663202 Diseases of signal transduction
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-421270 Cell-cell junction organization
R-HSA-5357801 Programmed Cell Death
R-HSA-1643685 Disease
R-HSA-525793 Myogenesis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-446728 Cell junction organization
R-HSA-1266738 Developmental Biology
R-HSA-74160 Gene expression (Transcription)
R-HSA-194138 Signaling by VEGF
R-HSA-1500931 Cell-Cell communication
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1L7, CTNB1_HUMAN, CTNNB, NM_001904, NP_001895, OK/SW-cl.35, P35222, PRO2286, Q8NEW9, Q8NI94, Q9H391
UCSC ID: uc003ckr.2
RefSeq Accession: NM_001904
Protein: P35222 (aka CTNB1_HUMAN or CTNB_HUMAN)
CCDS: CCDS2694.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001904.3
exon count: 15CDS single in 3' UTR: no RNA size: 3720
ORF size: 2346CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4892.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1094# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.