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FLASH GENE
Symbol CMA1 contributors: mct - updated : 12-03-2007
HGNC name chymase 1, mast cell
HGNC id 2097
Location 14q11.2      Physical location : 24.974.711 - 24.977.471
Synonym name mast cell protease I
Synonym symbol(s) CHYM, MCT1, MGC119890, MGC119891
EC.number 3.4.21.39
DNA
TYPE functioning gene
STRUCTURE 2.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - TRA@ /TRD@ - GZMB - GZMH - CTSG - CMA1 - qter
Authors Caughey (93)
Physical map
PSME2 14q11.2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) RNF31 14q11.2 ring finger protein 31 ISGF3G 14q11.2 interferon-stimulated transcription factor 3, gamma 48kDa REC8L1 14q11.2-q12 REC8-like 1 (yeast) IPO4 14q11.2 importin 4 TM9SF1 14q11.2 transmembrane 9 superfamily member 1 C14orf20 14q11.2 chromosome 14 open reading frame 20 C14orf123 14q11.2 chromosome 14 open reading frame 123 MGC5987 14q11.2 hypothetical protein MGC5987 NEDD8 14q11.2 neural precursor cell expressed, developmentally down-regulated 8 GMPR2 14q11.2 guanosine monophosphate reductase 2 TINF2 14q11.2 TERF1 (TRF1)-interacting nuclear factor 2 TGM1 14q11.2 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) RABGGTA 14q11.2 Rab geranylgeranyltransferase, alpha subunit DHRS1 14q11.2 dehydrogenase/reductase (SDR family) member 1 C14orf21 14q11.2 chromosome 14 open reading frame 21 CIDEB 14q11.2 cell death-inducing DFFA-like effector b LTB4R2 14q11.2-q12 leukotriene B4 receptor 2 LTB4R 14q11.2-q12 leukotriene B4 receptor ADCY4 14q11.2 adenylate cyclase 4 RIPK3 14q11.2 receptor-interacting serine-threonine kinase 3 NFATC4 14q11.2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 KIAA1305 14q11.2 KIAA1305 HCDI CMA1 14q11.2 chymase 1, mast cell CTSG 14q11.2 cathepsin G GZMH 14q11.2 granzyme H (cathepsin G-like 2, protein h-CCPX) GZMB 14q11.2 granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Respiratorylung    
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
cells
SystemCellPubmedSpeciesStageRna symbol
 mast cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Cma1
Homologene
FAMILY
  • trypsin family
  • granzyme subfamily
  • peptidase family S1
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,granule
    basic FUNCTION
  • serine protease, cleaving chymotrypsin
  • degradation of the extracellular matrix, regulation of submucosal gland secretion, and generation of vasoactive peptides
  • largely responsible in the heart and blood vessels, for converting angiotensin I to the vasoactive peptide angiotensin II
  • activated human skin mast cells (MCs) convert CTAP-III into biologically active NAP-2 through proteolytic cleavage by released chymase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS digestion
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • chymotrypsin
  • Human mast cell chymase caused conjunctival epithelial cell detachment by degrading fibronectin, and this led to secondary apoptosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to atopy
    Variant & Polymorphism a variant putatively involved in eczema
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS