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FLASH GENE
Symbol HPCA contributors: mct - updated : 15-04-2015
HGNC name hippocalcin
HGNC id 5144
Corresponding disease
DYT2 torsion dystonia 2
Location 1p35.1      Physical location : 33.352.097 - 33.360.246
Synonym name
  • neuron specific calcium-binding protein hippocalcin
  • calcium-binding protein BDR-2
  • Synonym symbol(s) BDR2
    DNA
    TYPE functioning gene
    STRUCTURE 8.15 kb     4 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1440 - 193 - 1998 9931466
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly Homo sapiens
     braindiencephalonhypothalamus highly Homo sapiens
     brainbasal nucleistriatum predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Nervouspyramidal cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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