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FLASH GENE
Symbol PNKD contributors: mct - updated : 03-01-2017
HGNC name paroxysmal nonkinesiogenic dyskinesia
HGNC id 9153
Corresponding disease
DYT8 dystonia 8, paroxysmal dystonic choreoathetosis
Location 2q35      Physical location : 219.135.114 - 219.211.515
Synonym name
  • likely ortholog of mouse brain protein 17
  • trans-activated by hepatitis C virus core protein 2
  • myofibrillogenesis regulator 1
  • Synonym symbol(s) FKSG19, TAHCCP2, KIAA1184, MGC31943, MR-1, BRP17, PDC, FPD1, KIPP1184, MR1, DYT8, PKND1, TAHCCP2
    EC.number 3.1.2.6
    DNA
    TYPE functioning gene
    STRUCTURE 76.40 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3129 42.9 385 specifically in brain, only in the central nervous system (CNS) mitochondrial 2011 21487022
  • PNKD-L, MR-1 L (variant 1)
  • located to the cell membrane, and remains in late endosomes before trafficking to the cell membrane
  • N-terminus of the wild-type (WT) long PNKD isoform (PNKD-L) undergoing a cleavage event
  • contain the beta-lactamase domain in the C-terminus
  • degraded through the proteasomal, lysosomal and autophagy pathways
  • may be involved in vesicle recycling or membrane protein transport in CNS neurons
  • 9 - 3002 40.7 361 widely, localized in the Golgi apparatus, ER and plasma membrane (Ghezzi 2009) 2011 21487022
  • MR-1M (variant 2)
  • PNKD-M isoforms contain the beta-lactamase domain in the C-terminus
  • exons 3 to 10 and a unique 5'exon encoding 56 AA
  • specifically located in the perinuclear region
  • 3 - 774 - 142 ubiquitous 2011 21487022
  • MR-1S (variant 3)
  • PNKD-S contains three exons with no homology to any known protein
  • exon 1 and 2 and a unique 3'exon encoding 63 AA before a stop codon
  • located only in the cytoplasm and nucleus, mitochondrial, widely distributed in cells
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunespleen    
    Nervousbrain   highly
     spinal cord    
    Reproductivefemale systemovary   
     male systemtestis   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • zinc binding residues
  • a transmembrane domain
  • MTS (mitochondrial targeting sequence)
  • a beta-lactamase domain in the C-terminus
  • HOMOLOGY
    intraspecies homolog to HAGH
    homolog to murine Brp17
    Homologene
    FAMILY beta-lactamase-like family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • playing a role in neuronal excitability
  • important role in maintaining cellular redox status
  • functions likely to modulate striatal neuro-transmitter release in response to stress and other precipitating factors
  • functions as a tumor promoter in MCF7 cells by activating the MEK/ERK signaling
  • is a novel synaptic protein with a regulatory role in neurotransmitter release
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MYL9 (Ren 2008)
  • interacts with synaptic active zone proteins Rab3-interacting molecule (RIMS1) and RIMS2, localizes to synapses, and modulates neurotransmitter release
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    associated with cancer cell proliferation and migration through MYL9 (Ren 2008)
    tumoral     --over  
    in human breast cancer cells and participates in tumor promotion in human breast cancer MCF7 cells by activating the ERK1/2 signaling pathway
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target (Ren 2008)
    SystemTypeDisorderPubmed
    cancer  
    might be a potential cancer therapeutic target
    ANIMAL & CELL MODELS
  • Pnkd-deficient mice have lower brain glutathione levels and impaired motor coordination