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FLASH GENE
Symbol NCALD contributors: mct - updated : 13-03-2017
HGNC name neurocalcin delta
HGNC id 7655
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
  • is a brain-enriched neuronal calcium sensor and its reduction acts protective against spinal muscular atrophy (SMA)
    • 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
  • MAP3K10 is a novel NCALD interacting partner
    • 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
    neuromuscularspinal muscular atrophy 
    NCALD reduction as a therapeutic option for SMA
    ANIMAL & CELL MODELS
  • Ncald downregulation in the nervous system of SMA mice ameliorates also muscle pathology