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FLASH GENE
Symbol CALB1 contributors: mct/npt - updated : 03-06-2015
HGNC name calbindin 1, 28kDa
HGNC id 1434
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six EF-hand Ca2+ binding motifs
  • four calcium binding sites
    • HOMOLOGY
    interspecies homolog to murine Calb1
    Homologene
    FAMILY
  • calbindin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • vitamin D dependent calcium binding protein 1
  • acting not only as a potent calcium buffer but also as a calcium sensor
  • calcium-binding protein that widely is expressed in neurons
  • CALB1, CALB2, PVALB, regulate presynaptic inner hair cells (IHCs) function for metabolically efficient sound coding
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targeting IMPA1 in spines and dendrites of cerebellar Purkinje neurons
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Parkinson disease (associated with PD independently of SNCA)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS