Aliases for EFR3A Gene
External Ids for EFR3A Gene
Previous GeneCards Identifiers for EFR3A Gene
The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
GeneCards Summary for EFR3A Gene
EFR3A (EFR3 Homolog A) is a Protein Coding gene. Diseases associated with EFR3A include Autism. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is EFR3B.
UniProtKB/Swiss-Prot for EFR3A Gene
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825).