CTNNB1

catenin beta 1

Ensembl:
ENSG00000168036
UniProt:
P35222
OMIM:
116806
Synonyms:
ARMADILLO, BETA-CATENIN, CTNNB

Cilia effects upon perturbation of 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
Mouse ciliopathy phenotype:
abnormal cranium morphology
Human ciliopathy phenotype:
severe intellectual disability-progressive spastic diplegia syndrome; adrenal cortex carcinoma; Intellectual disability

Ciliopathy associations

  • Medulloblastoma

Subcellular localization

basal body, centrosome, cilia, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • 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鈥檚 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/尾-catenin sig ling (30008323).

Model organism evidence

Mus musculus (1 reference)

(#)Contributed equally BACKGROUND: CFAP57 is essential for the development and function of sperm flagella, as it is required for the assembly and stability of the inner dynein arm (IDA) that drive sperm motility.

PMIDs: 41793497

Xenopus (2 references)

Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesia.

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.

PMIDs: 41727625, 41646686