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 Parkinson Disease 20, Early-Onset and Epileptic Encephalopathy, Early Infantile, 53. Among its related pathways are Metabolism and Vesicle-mediated transport. 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).