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FLASH GENE
Symbol CAPNS1 contributors: mct/npt - updated : 01-04-2008
HGNC name calpain, small subunit 1
HGNC id 1481
Location 19q13.13      Physical location : 36.630.917 - 36.641.254
Synonym name
  • calpain,common, small polypeptide,nCL-1 type
  • calpain 4, small subunit (30K)
  • calcium-activated neutral proteinase small subunit
  • Synonym symbol(s) 30K, CANP, CDPS, CANPS, CAPN4, CALPAIN4, CSS1
    EC.number 3.4.22.17
    DNA
    TYPE functioning gene
    STRUCTURE 10.00 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • three so-called G-C box sequences and one G-C box-like sequence
  • Sp1-, NRF-1-, and AP-1-binding elements within the core promoter
  • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1492 28.3 268 - Stelzl (2005)
    - - 1489 - 268 - Stelzl (2005)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Nervousnerve   highly
    Reproductivefemale systemuterus   
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin    
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • a N terminal regulatory domain processed after activation (i)
  • a cysteine protease domain (II)
  • a linker domain (III)
  • four calcium binding domains with calmodulin-like EF hand motifs (IV)
  • two nuclear localization signals (NLS)
  • a gly-rich hydrophobic domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Capns1
    Homologene
    FAMILY
  • papain superfamily, nCL-1 type
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text translocated to the plasma membrane upon Ca2+ binding
    basic FUNCTION
  • calcium dependent intracellular neutral cysteine proteinase (non lysosomal)
  • required to maintain stability and activity of both calpains
  • CELLULAR PROCESS cell life, proliferation/growth
    protein, degradation
    PHYSIOLOGICAL PROCESS nervous system
    text
  • neurodegenerative processes implication
  • positive control of cell proliferation
  • PATHWAY
    metabolism
    signaling
    a component
  • heterodimerazing with CAPN1, CAPN2
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • first protease to be identified and validated as a transcriptional target of NRF1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to myotonic dystrophy and neurodegenerative processes
    Variant & Polymorphism SNP
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Capn4 knockout mice (Arthur,2000)