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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
    Physical map
    ATP6V0D2 8q21.13 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2 SLC7A13 8q21.2 solute carrier family 7, (cationic amino acid transporter, y  system) member 13 WWP1 8q21 solute carrier family 7, (cationic amino acid transporter, y  system) member 13 CGI-90 8q21.2 CGI-90 protein CPNE3 8q22.1-q22.2 copine III CNGB3 8q21-q22 cyclic nucleotide gated channel beta 3 FLJ35802 8q21.2-q21.3 hypothetical protein FLJ35802 LOC392250 8 similar to mitochondrial isoleucine tRNA synthetase SOX5P 8q21.1 SRY (sex determining region Y)-box 5 pseudogene FLJ35775 8q21.3 hypothetical protein FLJ35775 DKFZp761D112 8q21.3 hypothetical protein DKFZp761D112 MMP16 8q21.3-q22.1 matrix metalloproteinase 16 (membrane-inserted) LOC138040 8q21.3 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 LOC340450 8q21.3 hypothetical LOC340450 RIPK2 8q21 receptor-interacting serine-threonine kinase 2 C8orf1 8q21 chromosome 8 open reading frame 1 NBS1 8q21.3 Nijmegen breakage syndrome 1 (nibrin) DECR1 8q21.3 2,4-dienoyl CoA reductase 1, mitochondrial CALB1 8q21.3-q22.1 calbindin 1, 28kDa DKFZp762C1112 8q21.3 hypothetical protein DKFZp762C1112 EFCBP1 8q21.3 EF hand calcium binding protein 1 DKFZp762O076 8q21.3 hypothetical protein DKFZp762O076 CGI-77 8q21.3 CGI-77 protein LOC340451 SLC26A7 8q23 solute carrier family 26, member 7 MRPS16P1 8q21.3 solute carrier family 26, member 7 CBFA2T1 8q22 core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related LOC389675 8 similar to 40S ribosomal protein S26 LOC389676 8 LOC389676 LOC392251 8 similar to KIAA1588 protein LOC137392 8q22.1 similar to CG6405 gene product LOC389677 8 similar to RIKEN cDNA 3000004N20 PRO1905 8q22.1 hypothetical protein PRO1905 MGC26979 8q22.1 hypothetical protein MGC26979 LOC157667 8q22.1 similar to myosin regulatory light chain-like PPM2C 8q22.1 protein phosphatase 2C, magnesium-dependent, catalytic subunit
    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