Aliases for SYNJ1 Gene
External Ids for SYNJ1 Gene
Previous GeneCards Identifiers for SYNJ1 Gene
This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
GeneCards Summary for SYNJ1 Gene
SYNJ1 (Synaptojanin 1) is a Protein Coding gene. Diseases associated with SYNJ1 include Epileptic Encephalopathy, Early Infantile, 53 and Parkinson Disease 20, Early-Onset. Among its related pathways are EGF/EGFR Signaling Pathway and Internalization of ErbB1. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SYNJ2.
UniProtKB/Swiss-Prot for SYNJ1 Gene
Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity).