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FLASH GENE
Symbol NCALD contributors: mct - updated : 13-03-2017
HGNC name neurocalcin delta
HGNC id 7655
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  moderately
Nervousbrainhindbraincerebellum  
 spinal cordanterior horn    Homo sapiens
Reproductivefemale systemovary  lowly
 male systemtestis  lowly
Visualeye   highly
 eyeuvea   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
Epithelial    
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Visualcone photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two pairs of EF-hand domains and an N-terminal myristoyl anchor, which enables switching from cytosolic to membrane-bound forms in a Ca2+-dependent manner
  • HOMOLOGY
    Homologene
    FAMILY EF-hand calcium-binding protein superfamily ,recoverin subfamily
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • clathrin coat of trans-Golgi network vesicle
  • localizes at the presynaptic terminals of NMJs, suggesting a potential role at the NMJ
  • basic FUNCTION
  • may be involved in the calcium-dependent regulation of rhodopsin phosphorylation
  • GLS, NCALD and INSR are involved in nutrient signaling pathways and energy homeostasis suggesting a role in celiac disease pathogenesis
  • involved in the control of clathrin- coated vesicle traffic
  • is a Ca2+-dependent negative regulator of endocytosis
  • neuronal Ca2+ sensor protein, that is an SMA-protective modifier
  • has a Ca2+-dependent interaction with clathrin and is thereby able to modulate endocytosis and likely vesicle recycling at the motor endplate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • at the membrane, the myristoylated form of NCALD senses submicromolar increments in free Ca(2+), binds to its specific GUCY2D domain, and stimulates the cyclase
  • union between the catalytic domain of GUCY2D and NCALD, and NCALD-binding transduction motif of the catalytic domain consists of a helix–loop–helix structure
  • NRF1 could be a regulatory factor for VSNL1 gene expression and for other visinin-like subfamily members including HPCAL4, HPCAL1, HPCA, and NCALD
  • interacts with clathrin and actin, both of which are involved in endocytosis and synaptic vesicle recycling
  • acts as a negative regulator of endocytosis, which is in contrast to PLS3 acting as its positive regulator
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    counteract the impaired axonal development of SMN-deficient MNs
    tumoral     --over  
    of PDIA3, LYAR, NOP14, NCALD and MTSS1 genes in the ovarian cancer with poor prognosis
    Susceptibility to diabetic nephropathy
    Variant & Polymorphism other
  • polymorphisms in the 3prime UTR in NCALD affect mRNA stability, and confer susceptibility to diabetic nephropathy
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    combinatorial therapy that both elevates SMN and decreases NCALD (by ASO treatment) may provide a full protection, resulting in asymptomatic individuals
    neurologyneurodegenerativeParkinson/dementia Parkinsonism
    NCALD downregulation might become an efficient strategy against SMA and other neurodegenerative diseases
    ANIMAL & CELL MODELS
  • Ncald downregulation in the nervous system of SMA mice ameliorates also muscle pathology