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FLASH GENE
Symbol CPLX1 contributors: mct/npt/pgu - updated : 18-12-2018
HGNC name complexin 1
HGNC id 2309
DNA
TYPE functioning gene
STRUCTURE 41.20 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2200 14.9 134 - 2008 18240322
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   moderately
 nervecranial nerve  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
Nervousoptic nerve
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye, lens, retina, optic nerve, choroid, RPE, anterior segment
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • highly charged protein, rich in Glu, Asp, Lys, Arg
  • HOMOLOGY
    interspecies homolog to rattus Cplx1 (97 pc)
    homolog to murine Cplx1 (96.3 pc)
    Homologene
    FAMILY
  • complexin/synaphin family
  • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • enriched at synaptic-releasing sites in mature neurons
  • localized in and/or around the acrosome
  • basic FUNCTION
  • SNARE regulatory protein, regulating positively a late step in synaptic vesicle exocytosis
  • also involved in glucose-induced secretion of insulin by pancreatic beta-cells
  • playing a necessary role for the acrosome reaction in sperm
  • presynaptic protein that modulate neurotransmitter release and are used as markers of inhibitory synapses
  • is required for faithful processing of sound onset and offset in the cochlear nucleus
  • organizes the SNAREs into a zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion
  • with SYT1, CPLX1 synchronizes and stimulates rapid fusion of accumulated docked vesicles in response to physiological Ca(2+) concentrations
  • is a small, SNARE-associated protein believed to regulate fast, calcium-triggered exocytosis
  • role of CPLX1 and CPLX2 in facilitating vesicle priming, suggesting that Cplxs may synchronize vesicle release by promoting coupling between secretory vesicles and calcium channels
  • because both SNCA and CPLX1 modulate vesicle release, likely presynaptic dysfunction is an early event in Parkinson disease pathology
  • CPLX1 utilizes distinct mechanisms for synchronization of Ca(2+)-triggered fusion and inhibition of spontaneous fusion
  • small synaptic protein that cooperate with SNARE-complexes in the control of synaptic vesicle (SV) fusion
  • presynaptic proteins CPLX1 and CPLX2 differentially influence cognitive function in early and late stages of Alzheimer disease
  • CPLX1 generates a focused clamp for the neuronal SNARE complex in a linker-open conformation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    text neurotransmitter transport
    PATHWAY
    metabolism
    signaling neurotransmission
    late step in Ca2+-dependent neurotransmitter release regulating a step immediately preceding vesicle fusion
    a component
  • component of exocytotic core complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to syntaxin within the SNAP receptor (SNARE) core complex
  • CPLX1, CPLX2 facilitate and inhibit neurotransmitter release through distinct domains, and their function was proposed to be coupled to the Ca(2+) sensor synaptotagmin-1 (SYT1)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE63
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increases during synaptic maturation in dorsolateral prefrontal cortex and an increase in the influence of inhibitory synapses relative to that of excitatory synapses occurs during development in this cortical region
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS