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FLASH GENE
Symbol ESYT1 contributors: mct - updated : 27-04-2020
HGNC name extended synaptotagmin-like protein 1
HGNC id 29534
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
31 - 4285 - 1114 - 2018 29154949
31 - 4255 - 1104 - 2018 29154949
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivemouth    
Lymphoid/Immunespleen    
Reproductivefemale systemovary   
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
cell lineage
cell lines
fluid/secretion lymph
at STAGE
physiological period fetal
Text umbilical cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal transmembrane region
  • a central juxtamembranous domain that is conserved
  • five C-terminal C2 domains
  • HOMOLOGY
    interspecies homolog to murine Mbc2 (88.4pc)
    homolog to rattus Mbc2 (87.8pc)
    Homologene
    FAMILY
  • extended synaptotagmin family
  • multi-C2 domain membrane proteins family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • localized to intracellular membranes
  • localizes to presynaptic ER structures at the neuromuscular junction
  • basic FUNCTION
  • functioning as Ca2+-regulated intrinsic membrane proteins with multiple C2 domains, expanding the repertoire of such proteins to a fourth class beyond synaptotagmins, ferlins, and MCTPs (multiple C2 domain and transmembrane region proteins)
  • endoplasmic reticulum (ER)-plasma membrane (PM) tethering function of ESYT1, ESYT2, ESYT3 (tricalbins in yeast) mediates the formation of ER-PM contacts sites, which are functionally distinct from those mediated by STIM1 and ORAI1
  • implicated in the formation of junctions between endoplasmic reticulum and plasma membrane, as well as the Ca(2+) dependent replenishment of membrane phospholipids
  • is a presynaptic ER protein that can promote neurotransmission and synaptic growth, revealing the first neuronal functions of this conserved gene family
  • Ca2+ releases ESYT1 autoinhibition to couple ER-plasma membrane tethering with lipid transport
  • Ca2+-triggered exocytosis is temporally coupled to Ca2+-triggered ESYT1 Plasma Membrane recruitment and removal of diacylglycerol (DAG) to negatively regulate the same process
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • insulin-activated CDK5 phosphorylates ESYT1, a 5 C2-domain protein-related to the synaptotagmins that is induced during adipocyte differentiation
  • feedback mechanism that replenishes Plasma membrane (PM) INPP5J during receptor-induced Ca(2+) signaling via the Ca(2+) effector ESYT1 and the PITPNM1 at ER-PM junctions
  • bind phospholipids in a Ca2+-dependent manner via its C2-domains, is localized to ER-plasma membrane contact sites, and may catalyze lipid exchange between the plasma membrane and the ER via its SMP-domains
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • even the combined inactivation of Esyt1, Esyt2, ESyt3 genes has no effect on mouse viability or fertility in the laboratory