CTNND1
CTNND1 (Catenin Delta 1) is a Protein Coding gene. Diseases associated with CTNND1 include Blepharocheilodontic Syndrome 2 and Blepharocheilodontic Syndrome 1. Among its related pathways are N-cadherin signaling events and PAK Pathway. Gene Ontology (GO) annotations related to this gene include binding and receptor binding. An important paralog of this gene is ARVCF.
Full Name
Catenin Delta 1
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).
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).
Biological Process
Adherens junction organization Source: Reactome
Brain development Source: Ensembl
Cell-cell adhesion Source: GO_Central
Cell-cell adhesion mediated by cadherin Source: UniProtKB
Cell-cell junction assembly Source: GO_Central
Entry of bacterium into host cell Source: Reactome
Negative regulation of canonical Wnt signaling pathway Source: BHF-UCL
Protein stabilization Source: UniProtKB
Regulation of postsynaptic membrane neurotransmitter receptor levels Source: SynGO
Wnt signaling pathway Source: UniProtKB-KW
Cellular Location
Nucleus; Cell membrane; Cytoplasm; Adherens 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). Isoforms 4A and 1AB are excluded from the nucleus (PubMed:11896187).
Isoform 1A&2A&3A: Nucleus
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.
PTM
Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ.
Loading...
Datasheet