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FLASH GENE
Symbol CPLX1 contributors: mct/npt/pgu - updated : 18-12-2018
HGNC name complexin 1
HGNC id 2309
Corresponding disease
EIEE63 epileptic encephalopathy, early infantile, 63
Location 4p16.3      Physical location : 778.745 - 819.945
Synonym name
  • synaphin 2
  • complexin I
  • Synonym symbol(s) CLX1, CPX1, CPX-I
    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
    Physical map
    PCDH18 4q31.2-q32 protocadherin 18 LOC389255 4 similar to RSTI689 LOC152687 4p16.3 hypothetical protein LOC152687 AMBN 4q21 ameloblastin, enamel matrix protein FLJ90036 4p16.3 hypothetical protein FLJ90036 LOC391611 4 similar to Zinc finger protein 208 ZNF141 4p16.3 zinc finger protein 141 (clone pHZ-44) FLJ14297 4p16.3 hypothetical protein FLJ14297 FLJ20265 4p16.3 hypothetical protein FLJ20265 PDE6B 4p16.3 phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) ATP5I 4p16.3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e MYL5 4p16.3 myosin, light polypeptide 5, regulatory FLJ22269 4p16.3 hypothetical protein FLJ22269 RNF3 4p16.3 ring finger protein 3 CPLX1 4p16.3 complexin 1 GAK 4p16 cyclin G associated kinase MGC4618 4p16.3 hypothetical protein MGC4618 DGKQ 4p16.3 diacylglycerol kinase, theta 110kDa SLC26A1 4p16.3 solute carrier family 26 (sulfate transporter), member 1 IDUA 4p16.3 iduronidase, alpha-L- FGFRL1 4p16 fibroblast growth factor receptor-like 1 LOC285498 4p16.3 hypothetical protein LOC285498 LOC132969 4p16.3 similar to hornerin SPON2 4p16.3 spondin 2, extracellular matrix protein CTBP1 4p16 C-terminal binding protein 1 MGC21675 4p16.3 hypothetical protein MGC21675 MAEA 4p16.3 macrophage erythroblast attacher KIAA1530 4p16.3 KIAA1530 protein FLJ34443 4p16.3 hypothetical protein FLJ34443 HSPX153 4p16.3 HPX-153 homeobox LOC345375 4p16.3 similar to CG32656-PA LOC152877 4p16.3 similar to RIKEN cDNA 5430419M09 SLBP 4p16 stem-loop (histone) binding protein LOC92305 4p16.3 hypothetical protein BC009331 TACC3 4p16.3 transforming, acidic coiled-coil containing protein 3 FGFR3 4p16.3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) LETM1 4p16.3 leucine zipper-EF-hand containing transmembrane protein 1 WHSC1 4p16.3 Wolf-Hirschhorn syndrome candidate 1 WHSC2 4p16.3 Wolf-Hirschhorn syndrome candidate 2 LOC389195 4 hypothetical gene supported by BC038466; BC047038 FLJ37478 4p16.3 hypothetical protein FLJ37478 POLN 4p16.3 polymerase (DNA directed) nu MGC4701 4p16.3 hypothetical protein MGC4701 MXD4 4p16.3 MAX dimerization protein 4 KIAA1643 4p16.3 KIAA1643 protein LOC339985 4p16.3 hypothetical gene supported by BC010180 RNF4 4p16.3 ring finger protein 4 C4orf8 4p16.3 chromosome 4 open reading frame 8 TNIP2 4p16.3 TNFAIP3 interacting protein 2 LOC389196 4 LOC389196 SH3BP2 4p16.3 SH3-domain binding protein 2 ADD1 4p16.3 adducin 1 (alpha) TETRAN 4p16.3 tetracycline transporter-like protein C4orf9 4p16.3 chromosome 4 open reading frame 9 GPRK2L 4p16.3 G protein-coupled receptor kinase 2-like (Drosophila) HD 4p16.3 huntingtin (Huntington disease) LOC345222 4p16.3 hypothetical gene supported by BC043530 RGS12 4p16.3 regulator of G-protein signalling 12 HGFAC 4p16.3 HGF activator FLJ33718 4p16.3 hypothetical protein FLJ33718
    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