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FLASH GENE
Symbol CSTB contributors: mct - updated : 10-09-2010
HGNC name cystatin B (stefin B)
HGNC id 2482
Corresponding disease
EPM1 myoclonic epilepsy of Unverricht-Lundborg
Location 21q22.3      Physical location : 45.193.831 - 45.196.259
Synonym name
  • stefin B
  • cystatin B, cysteine proteinase inhibitor, type 2 family
  • liver thiol proteinase inhibitor
    • Synonym symbol(s) STFB, CST6, PME, CPI-B
    DNA
    TYPE functioning gene
    STRUCTURE 2.43 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence   other
    text structure variable dodecamer tandem repeat (VNTR)
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 674 11.1 98 - Werle, Skerget (2010)
    - - 249 9 83 ubiquitous Joensuu (2007)
    retention of the entire intron 2
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
     pharynx   highly
    Endocrineparathyroid   highly
    Nervousbrain   highly
    Reproductivemale systemprostate   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    Nervousoligodendrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two intramolecular disulfide bonds
  • a cystatin domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Cstb
    Homologene
    FAMILY
  • cystatin type 1 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text interaction between cystatin B and nucleosomes, specifically with histones H2A.Z, H2B, and H3 (Ceru 2010)
    basic FUNCTION
  • cysteine proteinase inhibitor playing a role in protecting against the proteases leaking from lysosomes
  • anti-protease, that aggregates within cells, aggregation increasing upon protein overexpression or proteasome inhibition (Ceru 2010)
  • could play an important role in regulating the proteolytic activity of cathepsin L in the nucleus, protecting substrates such as transcription factors from its proteolytic processing (Ceru 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • tightly binding and inhibitor of cathepsins H, L, B
  • APP/Abeta-binding protein in vitro and likely in cells (Skerget 2010)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker may be useful as a novel predictive biomarker in transitional cell carcinoma of the bladder (Feldman 2009)
    Therapy target
    ANIMAL & CELL MODELS
    mice lacking cystatin B develop myoclonic seizures and ataxia