Aliases for ESYT1 Gene
External Ids for ESYT1 Gene
Previous HGNC Symbols for ESYT1 Gene
Previous GeneCards Identifiers for ESYT1 Gene
GeneCards Summary for ESYT1 Gene
ESYT1 (Extended Synaptotagmin 1) is a Protein Coding gene. Diseases associated with ESYT1 include Stormorken Syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and phospholipid binding. An important paralog of this gene is ESYT2.
UniProtKB/Swiss-Prot Summary for ESYT1 Gene
Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.