CTNND1 phospho S268
Domain
A possible nuclear localization signal exists in all isoforms where Asp-626--631-Arg are deleted.
ARM repeats 1 to 5 mediate interaction with cadherins.
Function
Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Promotes localization and retention of DSG3 at cell-cell junctions, via its interaction with DSG3 (PubMed:18343367). Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics (PubMed:10207085, PubMed:20371349). Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors (PubMed:17344476).
Involvement in disease
Blepharocheilodontic syndrome 2
BCDS2
A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ.
Sequence Similarities
Belongs to the beta-catenin family.
Tissue Specificity
Expressed in vascular endothelium. Melanocytes and melanoma cells primarily express the long isoform 1A, whereas keratinocytes express shorter isoforms, especially 3A. The shortest isoform 4A, is detected in normal keratinocytes and melanocytes, and generally lost from cells derived from squamous cell carcinomas or melanomas. The C-terminal alternatively spliced exon B is present in the p120ctn transcripts in the colon, intestine and prostate, but lost in several tumor tissues derived from these organs.
Cellular localization
- Cell junction
- Adherens junction
- Cytoplasm
- Nucleus
- Cell membrane
- Cell junction
- Interaction with GLIS2 promotes nuclear translocation (By similarity). Detected at cell-cell contacts (PubMed:15240885, PubMed:17047063). NANOS1 induces its translocation from sites of cell-cell contact to the cytoplasm (PubMed:17047063). CDH1 enhances cell membrane localization (PubMed:15240885). Localizes to cell-cell contacts as keratinocyte differentiation progresses (By similarity).
- Isoform 1A
- Nucleus
- Isoform 2A
- Nucleus
- Isoform 3A
- Nucleus
- Isoform 4A
- Cytoplasm
- Isoform 1AB
- Cytoplasm
Alternative names
KIAA0384, CTNND1, Catenin delta-1, Cadherin-associated Src substrate, p120 catenin, p120(cas), CAS, p120(ctn)