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FLASH GENE
Symbol CTSC contributors: mct - updated : 20-02-2010
HGNC name cathepsin C
HGNC id 2528
Corresponding disease
HMS Haim-Munk syndrome
JPD2 juvenile periodontitis 2
PALS Papillon-Lefèvre syndrome
Location 11q14.2      Physical location : 88.026.760 - 88.070.941
Synonym name
  • lysosomal cysteine (thiol) protease
  • cathepsin J
  • dipeptidyl transferase
  • dipeptidyl-peptidase I
  • Synonym symbol(s) DPP1, CPPI, DPPI, JP, JPD
    EC.number 3.4.14.1
    DNA
    TYPE functioning gene
    STRUCTURE 44.18 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1924 51.8 463 - 1997 9092576
    4 - 6143 15.1 137 ubiquitously, but predominantly in kidney, placenta, and lymph nodes. 1997 9092576
  • may act as a negative regulator of a stable mature enzyme
  • corresponding to the first and second exons, followed by additional 31 amino acids
  • 4 - 6099 - 141 - 1997 9092576
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
     salivary gland   highly
    Reproductivefemale systemplacenta  highly
    Respiratorylung   highly
    Skin/Tegumentskinpalm   
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • S sites, binding chloride ion
  • cathepsin C exclusion domain whose structure excludes the approach of a polypeptide apart from its termini
  • dipeptidyl-peptidase I heavy and light chain
  • mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • peptidase C1 family
  • papain superfamily
  • CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,granule
    text cytoplasmic granules in mast cells
    basic FUNCTION
  • cysteine protease with dipeptidase activity involved in the pathogenesis of bronchial asthma
  • can act as both an exopeptidase and endopeptidase
  • activates serine proteases such as elastase, cathepsin G and granzymes A and B
  • play a key role in regulating neutrophil recruitment at sites of inflammation
  • having a necessary role for neutrophil recruitment into the diseased aorta and acting to amplify vascular wall inflammation that leads to abdominal aortic aneurysms
  • cysteine protease required for the activation of several pro-inflammatory serine proteases
  • propeptide of cathepsin C may stimulate the sorting to the lysosome
  • activate KLK4 during enamel formation
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • potentially involved with chloride in the regulation of proleolysis in the lysosome
  • physiological activator of groups of serine proteases from immune and inflammatory cells
  • PATHWAY
    metabolism
    signaling
    a component
  • a dimer of disulfide-linked heavy and light chains
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binds 1 chloride ion per heavy chain
  • protein
  • processing and activating T lymphocytes granzymes A, B
  • cell & other
    REGULATION
    activated by chloride ion,endopeptidases such as CTSL,CTSS
    induced by interleukin 2,IL2
    ASSOCIATED DISORDERS
    corresponding disease(s) PALS , JPD2 , HMS
    Susceptibility to abdominal aortic aneurysms
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquired 
    potential therapeutic target in abdominal aortic aneurysms
    immunologyautoimmune 
    cathepsin C inhibition represents a viable but challenging approach for the treatment of neutrophil-based inflammatory disease
    ANIMAL & CELL MODELS