CTNNB1 (NM_001904) - catenin beta 1

Catenin Beta-1 Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of CTNNB1 protein. View all 3 isoforms
CTNNB1: catenin beta-1 isoform 1
Description:

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].

Strand
+
Chromosome
3
Protein
781 residues
All mutations
117
PTM sites
57
CDS
41,265,559 - 41,280,833
Transcription
41,240,941 - 41,281,939
25.61% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 1499
Uniprot
Ensembl