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FLASH GENE
Symbol NCS1 contributors: mct - updated : 20-03-2019
HGNC name neuronal calcium sensor 1
HGNC id 3953
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 splicing 5009 21.7 190 - 2016 27575489
8 splicing 4878 19.6 172 - 2016 27575489
  • contains a distinct 5' UTR and 5' coding region compared to variant 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Nervousbrainforebraincerebral cortex highly
     brainforebraincerebral lobefrontalhighly
     braindiencephalonamygdala highly Homo sapiens
     braindiencephalonhypothalamus highly
     nerve   predominantly
    Reproductivefemale systemovary  highly
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal sequence for myristoylation
  • four EF-hand, calcium binding motif
  • Zn2+-binding sites, which affect its structural and functional properties upon filling
  • C-terminal tail is important for regulating the conformational stability of the Ca(2+)-activated state
  • conjugated LipoP
    HOMOLOGY
    interspecies homolog to murine Freq (100 pc)
    homolog to rattus Freq (100 pc)
    Homologene
    FAMILY
  • recoverin family
  • CATEGORY signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text peripheral membrane protein, associated with golgi stacks, post-synaptic densities of dendrites, and in the pre-synaptic nerve terminal at neuromuscular junctions
    basic FUNCTION
  • regulator of g-protein coupled receptor phosphorylation in a calcium dependent manner
  • involved in the regulation of dense-core granule exocytosis
  • may be involved in a variety of brain function such a sensory processing, motor control, emotional control, learning and memory
  • can substitute for calmodulin
  • involved in in the regulation of ERK1/2 signaling and inflammatory reactions in mast cells, with PI4KB
  • plays an important role in neurotransmitter release and interacts with a plethora of binding partners mostly through a large solvent-exposed hydrophobic crevice
  • has evolved a remarkable complex interdomain cooperativity and a fundamentally different folding mechanism compared to structurally related proteins
  • Ca2+-binding protein, having an important role in cardiac survival during stress
  • contributes to stress tolerance in cardiomyocytes at least in part by activating certain Ca2+-dependent survival pathways that promote mitochondrial biosynthesis/function and detoxification pathways
  • multi-functional Ca2+-binding protein that affects a range of cellular processes beyond those related to neurons
  • plays a role in the aggressive behavior of a subset of breast cancer
  • in WFS1-deficient cells, NCS1 overexpression not only restored ER-mitochondria interactions and Ca2+ transfer but also rescued mitochondrial dysfunction
  • key role of NCS1 in ER-mitochondria cross-talk
  • regulates many vital processes such as synaptic transmission
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+ (3 ions via the second, third and fourth EF-hand)
  • protein
  • interacting with IL1RAPL1 and KCND2
  • is an important regulator of immature heart function and hypertrophy, and it functions in part by promoting ITPR1 function
  • interacts with both the G-protein-coupled receptor (GPCR) DRD2, regulating its internalization and surface expression, and the cognate kinases GRK1 and ADBRK1
  • cell & other
    REGULATION
    Other myristated
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    facilitates metastatic spread of liver and breast cancer
    constitutional germinal mutation      
    impairment of the normal cycling of NCS-1 by the R102Q mutation could have subtle effects on neuronal signalling and physiology in the developing and adult brain
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • cardiomyocytes derived from Ncs1-deficient (Ncs1-/-) mice were more susceptible to oxidative and metabolic stress than wild-type (WT) myocytes