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FLASH GENE
Symbol BLMH contributors: mct - updated : 07-03-2012
HGNC name bleomycin hydrolase
HGNC id 1059
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