Aliases for TULP3 Gene
External Ids for TULP3 Gene
Previous GeneCards Identifiers for TULP3 Gene
This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
GeneCards Summary for TULP3 Gene
TULP3 (TUB Like Protein 3) is a Protein Coding gene. Diseases associated with TULP3 include Joubert Syndrome 1 and Ellis-Van Creveld Syndrome. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. Gene Ontology (GO) annotations related to this gene include enzyme binding and phosphatidylinositol binding. An important paralog of this gene is TUB.
UniProtKB/Swiss-Prot Summary for TULP3 Gene
Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis.