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FLASH GENE
Symbol BLMH contributors: mct - updated : 07-03-2012
HGNC name bleomycin hydrolase
HGNC id 1059
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   highly
Digestiveesophagus   moderately
Endocrinepancreas    
Lymphoid/Immunethymus   highly
Nervousbrain     Homo sapiens
Respiratoryrespiratory tracttrachea  moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion blood moderately, lymph predominantly
at STAGE
physiological period fetal
Text umbilical cord highly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cysteine protease domain
  • mono polymer homomer , hexamer
    HOMOLOGY
    interspecies ortholog to rattus Blmh (93.6pc)
    ortholog to murine Blmh (93.2pc)
    Homologene
    FAMILY
  • cysteine protease papain superfamily
  • peptidase C1 family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity
  • cytosolic aminopeptidase that has been suggested to play a key role in generating MHC class I-presented peptides
  • does influence presentation of some Ags, although its role is largely redundant with other aminopeptidases
  • its transcription would be modulated during both differentiation and inflammation
  • with CTSZ, are both cysteine proteases of a papain-like structure, and mediate N-terminal proteolysis and toxicity of mutant huntingtin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS detoxification
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in hepatocellular carcinoma
    Susceptibility to Alzheimer's disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativehuntington chorea
    with CTSZ, are potential novel targets for Huntington disease therapeutics
    ANIMAL & CELL MODELS