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FLASH GENE
Symbol PITRM1 contributors: mct - updated : 06-06-2019
HGNC name pitrilysin metalloproteinase 1
HGNC id 17663
Corresponding disease
SCAMRP mental retardation, spinocerebellar ataxia, and psychosis
Location 10p15.2      Physical location : 3.179.919 - 3.215.003
Synonym name
  • metalloprotease 1 (pitrilysin family)
  • presequence protease, mitochondrial
  • PreP peptidasome
  • Synonym symbol(s) MP1, KIAA1104, MGC138192, MGC141929, PreP
    DNA
    TYPE functioning gene
    STRUCTURE 35.11 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 3245 - 766 - 2016 26697887
    27 - 3443 - 832 - 2016 26697887
    27 - 3482 67 602 - 2016 26697887
    27 - 3505 117.4 1037 - 2016 26697887
    25 - 3289 - 971 - 2016 26697887
    27 - 3508 117.6 1038 - 2016 26697887
    24 - 3198 106.1 939 - 2016 26697887
    27 - 3897 - 1029 - 2016 26697887
    25 - 3699 - 963 - 2016 26697887
    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