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FLASH GENE
Symbol HPCA contributors: mct - updated : 15-04-2015
HGNC name hippocalcin
HGNC id 5144
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal region of HPCA was required for binding to CKB
  • four EF-hand motifs, tandemly repeated
    • HOMOLOGY
    interspecies ortholog to murine Hpca
    Homologene
    FAMILY
  • neuronal Ca(2+) sensor protein family
  • recoverin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • co-localizes with activated JNK along microtubules
  • associates with CKB and together they translocate to membrane compartments in a Ca(2+)-dependent manner
    • basic FUNCTION
  • neuronal calcium binding protein, contributing to neuronal viability during aging
  • displaying recoverin activity and a calcium-dependent inhibition of rhodopsin kinase
  • plays an important role in the activation of ZHX2 conducted by Ras
  • may signal within diffusionally restricted domains of neuronal processes in which it might play a physiological role in Ca(2+)-dependent local activation of specific molecular targets
  • both hippocalcin and MAP3K10 may be associated with the pathogenesis of Parkinson disease
  • is the most highly expressed neuronal calcium sensor in the medium spiny striatal output neurons that degenerate selectively in Huntington disease (HD)
  • Ca(2+)-binding protein that is a key mediator of many cellular functions including synaptic plasticity and learning
  • also possesses an ability to produce local signalling at the single synaptic level providing a molecular mechanism for homosynaptic plasticity
  • Ca(2+)-binding protein contributing to neuronal plasticity
  • might play a role in regulating voltage-dependent calcium channels
  • role in synaptic plasticity within the hippocampus, where it is hypothesized to play a role in memory formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • two calcium ions
    • protein
  • binds to the C-terminal region of MAP3K10
  • NRF1 could be a regulatory factor for VSNL1 gene expression and for other visinin-like subfamily members including HPCAL4, HPCAL1, HPCA, and NCALD
  • specifically bound to CKB in a Ca(2+)-dependent manner, but not to the muscle-type CKM subunit
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    hippocalcin RNA is diminished by 63p100 in (HD) Huntington disease brain, but diminished hippocalcin expression does not contribute to HD-related neurodegeneration
    constitutional     --over  
    dramatically elongated neurites and increased the expression of basic helix-loop-helix transcription factor, that is, NEUROD1 without FGF2 stimulation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Hpca-deficient (Hpca(-/-)) mice display a defect in cAMP response element-binding protein (CREB) activation associated with impaired spatial and associative memory
  • Hpca-knockout mice show deficits in tests of spatial and associative memory in the absence of any obvious structural abnormalities within the brain