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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
    Physical map
    MLL4 19q13.1 myeloid/lymphoid or mixed-lineage leukemia 4 FLJ22573 19q13.13 hypothetical protein FLJ22573 U2AF1L3 19q13.13 U2(RNU2) small nuclear RNA auxiliary factor 1-like 3 PEN2 19q13.13 presenilin enhancer 2 F25965 19q13.1 protein F25965 FLJ32389 19q13.13 hypothetical protein FLJ32389 LOC148137 19q13.13 hypothetical protein BC017947 SNX26 19q13.13 sorting nexin 26 PRODH2 19q13.1 proline dehydrogenase (oxidase) 2 NPHS1 19q13.1 nephrosis 1, congenital, Finnish type (nephrin) KIRREL2 19q13.13 kin of IRRE like 2 (Drosophila) APLP1 19q13.1-q13.2 amyloid beta (A4) precursor-like protein 1 TA-NFKBH 19q13.13 T-cell activation NFKB-like protein HCST 19q13.1 hematopoietic cell signal transducer TYROBP 19q13.1 TYRO protein tyrosine kinase binding protein MGC2656 FLJ36445 19q13.13 hypothetical protein FLJ36445 MGC15677 19q13.13 hypothetical protein MGC15677 CLIPR-59 19q13.13 CLIP-170-related protein THAP8 19q13.13 THAP domain containing 8 FLJ33298 19q13.13 hypothetical protein FLJ33298 DKFZP434J046 LOC390925 POLR2I 19q12 polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa CKAP1 19q13.11-q13.12 cytoskeleton-associated protein 1 CAPNS1 19q13.13 calpain, small subunit 1 COX7A1 19q13.1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) FLJ36991 19q13.13 hypothetical protein FLJ36991 ZNF146 19q13.1 zinc finger protein 146 LOC388534 19 similar to Hypothetical zinc finger protein KIAA1559 MGC45380 19q13.13 hypothetical protein MGC45380 LOC126162 19q13.13 similar to peroxisomal acyl-CoA thioesterase 2B; likely ortholog of mouse peroxisomal acyl-CoA thioesterase 2B FLJ14779 19q13.13 hypothetical protein FLJ14779 LOC388535 19 LOC388535 LOC390926 19 similar to C-terminal binding protein 2 (CtBP2) LOC339324 19q13.13 hypothetical protein LOC339324
    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)