Aliases for DVL1 Gene
External Ids for DVL1 Gene
Previous GeneCards Identifiers for DVL1 Gene
DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]
GeneCards Summary for DVL1 Gene
DVL1 (Dishevelled Segment Polarity Protein 1) is a Protein Coding gene. Diseases associated with DVL1 include Robinow Syndrome, Autosomal Dominant 2 and Autosomal Dominant Robinow Syndrome. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Misspliced GSK3beta mutants stabilize beta-catenin. Gene Ontology (GO) annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is DVL3.
UniProtKB/Swiss-Prot Summary for DVL1 Gene
Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).