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FLASH GENE
Symbol CALB1 contributors: mct/npt - updated : 03-06-2015
HGNC name calbindin 1, 28kDa
HGNC id 1434
Location 8q21.3-q22.1      Physical location : 91.070.837 - 91.095.107
Synonym name
  • RTVL-H protein
  • vitamin d-dependent calcium-binding protein avian type
  • Synonym symbol(s) CALB, CAB27, CABV, D-28K
    DNA
    TYPE functioning gene
    STRUCTURE 24.27 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure calcium binding sites
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2531 - 231 - Mizuta (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
     stomach    
    Nervousbrain    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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