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FLASH GENE
Symbol PITRM1 contributors: mct - updated : 06-06-2019
HGNC name pitrilysin metalloproteinase 1
HGNC id 17663
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Pfkp
Homologene
FAMILY
  • metalloendoprotease superfamily
  • pitrilysin family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text
  • localized in the mitochondrial matrix in mammalian mitochondria and is the novel mitochondrial APP-degrading enzyme
  • basic FUNCTION
  • is deemed responsible for digesting the mitochondrial targeting sequence (MTS) of proteins imported across the inner mitochondrial membrane
  • genetic variation in PITRM1 may potentially contribute to mitochondrial dysfunctions
  • zinc metalloendopeptidase that has been implicated in Alzheimer disease and mitochondrial peptide degradation
  • is responsible for the degradation of presequences and other unstructured peptides including the amyloid-beta peptide, whose accumulation may have deleterious effects on mitochondrial function
  • mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targeting sequences that are cleaved from proteins imported across the inner mitochondrial membrane and the mitochondrial fraction of amyloid beta (APP)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    Mg2+
    protein
  • PITRM1 regulates intermediate FXN levels
  • is responsible for significant APP degradation and impairment of its activity results in APP accumulation
  • mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targeting sequences that are cleaved from proteins imported across the inner mitochondrial membrane and the mitochondrial fraction of amyloid beta (APP)
  • cell & other
    REGULATION
    activated by ADP/AMP or fructose biphosphate
    inhibited by ATP or citrate
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAMRP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in brains of Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hemizygous Pitrm1 +/- mouse displays slowly progressive, multisystem neurological impairment
  • Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors