|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:beta-catenin_gene
gptkb:catenin_(cadherin-associated_protein),_beta_1
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
1990s
|
|
gptkbp:encodes
|
gptkb:Catenin_beta-1_protein
|
|
gptkbp:Entrez_Gene_ID
|
1499
|
|
gptkbp:expressedIn
|
embryonic development
various tissues
adult life
|
|
gptkbp:function
|
gptkb:Wnt_signaling_pathway
cell adhesion
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple splice variants
|
|
gptkbp:HGNC_ID
|
2514
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CTNNB1 gene
|
|
gptkbp:interactsWith
|
gptkb:APC_protein
gptkb:TCF/LEF_transcription_factors
gptkb:E-cadherin
|
|
gptkbp:length
|
16 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p22.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:medulloblastoma
colorectal cancer
nonsense
intellectual disability
missense
hepatocellular carcinoma
frameshift
splice site
desmoid tumor
|
|
gptkbp:OMIM
|
116806
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Ctnnb1
|
|
gptkbp:pathway
|
canonical Wnt pathway
cadherin signaling pathway
cell junction organization
|
|
gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
ubiquitination
acetylation
|
|
gptkbp:product
|
gptkb:beta-catenin
|
|
gptkbp:referenceGenome
|
NM_001904.4
|
|
gptkbp:referenceSequenceProtein
|
NP_001895.1
|
|
gptkbp:regulates
|
cell differentiation
cell proliferation
cell migration
cell fate determination
gene transcription
|
|
gptkbp:UniProtID
|
gptkb:P35222
|
|
gptkbp:bfsParent
|
gptkb:beta-catenin
gptkb:Catenin_beta-1
gptkb:catenin_(cadherin-associated_protein),_beta_1
|
|
gptkbp:bfsLayer
|
6
|