CTNNB1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.31) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

abnormal startle reflex, abnormal bone mineralization, increased bone mineral content, increased startle reflex, abnormal head morphology, increased bone mineral density

Human ciliopathy phenotype:

severe intellectual disability-progressive spastic diplegia syndrome; adrenal cortex carcinoma; Intellectual disability

Ciliopathy associations

• Medulloblastoma

References: PMID:10192393, PMID:10666372

Subcellular localization

basal body, centrosome, cilia, cytosol, nucleus

References: PMID:41005307, PMID:18086858, PMID:22535411, PMID:15852005, PMID:30008323

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Metabolism
• Reproduction & sperm
• Neurogenesis & migration
• Viral interactions
• Protein processing & maturation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• ECM & connective tissue
• Transcription regulation

Function

Component of the intercentrosomal linker and a key regulator of mitotic centrosome separation (18086858). Required for Kupffer’s vesicle (KV) and cilia formation, and organ laterality. Ctnnb1/2 activity in dorsal forerunner cells is required for cilia formation by controlling the expression of a set of transcription factors (22535411). Interacts with TCF family members, activating Wnt target genes (15852005). Ciliary deconstruction initiates the formation of metastasising melanoma by promoting WNT/β-catenin signaling (30008323).