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FLASH GENE
Symbol BLMH contributors: mct - updated : 07-03-2012
HGNC name bleomycin hydrolase
HGNC id 1059
Location 17q11.2      Physical location : 28.575.222 - 28.619.074
Synonym symbol(s) BH, BMH
EC.number 3.4.22.40
DNA
TYPE functioning gene
STRUCTURE 43.85 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - WHN - NOS2A - SLC6A4 - [BLMH - GOSR1 - NF1 NF1 - D17S1863 ] - ACCN1 - D17S798 - CCL7 - qter
Authors Bentivegna (01)
Text [duplicated]
Physical map
SEZ6 17q11.2 seizure related 6 homolog (mouse) LOC342659 17q11.2 similar to NADH-ubiquinone oxidoreductase 15 kDa subunit (Complex I-15 kDa) (CI-15 kDa) PIPOX 17q11.2 pipecolic acid oxidase TIAF1 17q11.1-q11.2 TGFB1-induced anti-apoptotic factor 1 LOC390783 17 hypothetical gene supported by U02680; NM_002822 CRYBA1 17q11.2-q12 crystallin, beta A1 182-FIP 17q11.2 82-kD FMRP Interacting Protein KIAA1361 17q11.2 serine/threonine protein kinase TAO1 homolog LOC116236 17q11.2 hypothetical protein LOC116236 LOC90313 17q11.2 hypothetical protein BC004507 GIT1 17p11.2 G protein-coupled receptor kinase-interactor 1 FLJ25555 17q11.2 hypothetical protein FLJ25555 FLJ14871 17q11.2 hypothetical protein FLJ14871 SSH2 17q11.2 slingshot 2 FLJ46247 17q11.2 FLJ46247 protein DKFZP434K1421 17q11.2 hypothetical protein DKFZp434K1421 SLC6A4 17q11.2 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 BLMH 17q11.2 bleomycin hydrolase LOC388364 17 similar to AWKS9372 CPD 17q11.2 carboxypeptidase D GOSR1 17q11.2 golgi SNAP receptor complex member 1 LOC390784 17 similar to Arachidonate 12-lipoxygenase, 12S-type (12-LOX) (Platelet-type lipoxygenase 12) LOC388365 17 LOC388365 DKFZP434O047 17q11.2 DKFZP434O047 protein LOC284089 17q11.2 similar to keratin 17 LOC388366 17 LOC388366 DKFZp667M2411 17q11.2 hypothetical protein DKFZp667M2411 LOC388367 17 similar to Joined to JAZF1 CRLF3 17q11.2 cytokine receptor-like factor 3 FLJ12735 17q11.2 cytokine receptor-like factor 3 FLJ22729  hypothetical protein FLJ22729 CENTA2 17q11.2 centaurin, alpha 2 RNF135 17q11.2 ring finger protein 135 NF1 17q11.2 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) OMG 17q11.2 oligodendrocyte myelin glycoprotein EVI2B 17q11.2 ecotropic viral integration site 2B EVI2A 17q11.2 ecotropic viral integration site 2A AK3P1 17q11.2 adenylate kinase 3 pseudogene 1 RAB11-FIP4  rab11-family interacting protein 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2417 52.6 455 - 2001 11479735
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