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FLASH GENE
Symbol ESYT1 contributors: mct - updated : 27-04-2020
HGNC name extended synaptotagmin-like protein 1
HGNC id 29534
Location 12q13.2      Physical location : 56.521.985 - 56.538.460
Synonym name
  • family with sequence similarity 62 (C2 domain containing), member A
  • membrane bound C2 domain containing protein
  • protein FAM62A
  • extended synaptotagmin-like proteins 1
  • membrane-bound C2 domain-containing protein
    • Synonym symbol(s) KIAA0747, MBC2, E-SYT1, FAM62A
    DNA
    TYPE functioning gene
    STRUCTURE 16.47 kb     31 Exon(s)
    MAPPING cloned Y linked N status provisional
    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