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    Pnkd paroxysmal nonkinesiogenic dyskinesia [ Mus musculus (house mouse) ]

    Gene ID: 56695, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Pnkdprovided by MGI
    Official Full Name
    paroxysmal nonkinesiogenic dyskinesiaprovided by MGI
    Primary source
    MGI:MGI:1930773
    See related
    Ensembl:ENSMUSG00000026179 AllianceGenome:MGI:1930773
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MR-1; Brp17; Tahccp2; MNCb-5687; 2210013N15Rik; 2810403H05Rik
    Summary
    Predicted to enable hydroxyacylglutathione hydrolase activity and metal ion binding activity. Acts upstream of or within modulation of chemical synaptic transmission; neuromuscular process controlling posture; and regulation of dopamine metabolic process. Located in mitochondrion. Is active in presynaptic cytosol. Is expressed in central nervous system and retina. Used to study paroxysmal nonkinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in paroxysmal nonkinesigenic dyskinesia 1. Orthologous to human PNKD (PNKD metallo-beta-lactamase domain containing). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 30.7), liver adult (RPKM 26.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pnkd in Genome Data Viewer
    Location:
    1 38.53 cM; 1 C3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (74323757..74392851)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (74284599..74353692)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E175 Neighboring gene G protein-coupled bile acid receptor 1 Neighboring gene predicted gene 28364 Neighboring gene angio-associated migratory protein Neighboring gene transmembrane BAX inhibitor motif containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E3281 Neighboring gene STARR-positive B cell enhancer ABC_E4323 Neighboring gene STARR-seq mESC enhancer starr_01333 Neighboring gene ciliogenesis associated TTC17 interacting protein Neighboring gene solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:74433475-74433675 Neighboring gene STARR-positive B cell enhancer ABC_E2549

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Striatal Indirect Pathway Dysfunction Underlies Motor Deficits in a Mouse Model of Paroxysmal Dyskinesia. Nelson AB, et al. J Neurosci, 2022 Mar 30. PMID 35165171, Free PMC Article
    2. Silencing MR-1 attenuates inflammatory damage in mice heart induced by AngII. Dai W, et al. Biochem Biophys Res Commun, 2010 Jan 15. PMID 20040360
    3. [Cloning of mMR-1 gene and expression in Pichia pastoris systems]. Li TB, et al. Sheng Wu Gong Cheng Xue Bao, 2005 Jan. PMID 15859324
    4. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Lee HY, et al. Hum Mol Genet, 2004 Dec 15. PMID 15496428
    5. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Shen Y, et al. Hum Mol Genet, 2011 Jun 15. PMID 21487022, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PNKD KO mice, RIM1/2 protein levels are reduced and synaptic strength is impaired. Thus, PNKD is a novel synaptic protein with a regulatory role in neurotransmitter release
      Title: Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
    2. These findings support the hypothesis that the PNKD protein functions to modulate striatal neuro-transmitter release in response to stress and other precipitating factors.
      Title: Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
    3. these findings suggest that silencing MR-1 protected mice myocardium against inflammatory injury induced by AngII by suppression of pro-inflammatory transcription factors NF-kappaB and AP-1 signaling pathway.
      Title: Silencing MR-1 attenuates inflammatory damage in mice heart induced by AngII.
    4. MR-1 plays an aggravative role in the development of cardiac hypertrophy via activation of the nuclear factor kappaB signaling pathway
      Title: Overexpression of myofibrillogenesis regulator-1 aggravates cardiac hypertrophy induced by angiotensin II in mice.
    5. Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue.
      Title: The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydroxyacylglutathione hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of neurotransmitter secretion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of neurotransmitter secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular process controlling posture IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of dopamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of synaptic transmission, dopaminergic IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in presynaptic cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    probable hydrolase PNKD
    Names
    brain protein 17
    myofibrillogenesis regulator 1
    paroxysmal nonkinesiogenic dyskinesia protein
    trans-activated by hepatitis C virus core protein 2
    NP_001034598.1
    NP_064383.1
    NP_079856.2
    XP_006496230.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039509.1 → NP_001034598.1  probable hydrolase PNKD isoform 3

      See identical proteins and their annotated locations for NP_001034598.1

      Status: VALIDATED

      Source sequence(s)
      AF318058, AK173125, BU604861
      Consensus CDS
      CCDS35613.1
      UniProtKB/Swiss-Prot
      Q3TLE6, Q69ZP3, Q6PD45, Q8BRV8, Q920D4, Q9CSF5, Q9D765, Q9JJA3
      Related
      ENSMUSP00000027370.7, ENSMUST00000027370.13
      Conserved Domains (1) summary
      TIGR03413
      Location:121 → 380
      GSH_gloB; hydroxyacylglutathione hydrolase

    2. NM_019999.2 → NP_064383.1  probable hydrolase PNKD isoform 1

      See identical proteins and their annotated locations for NP_064383.1

      Status: VALIDATED

      Source sequence(s)
      AB041609, AC098570
      Consensus CDS
      CCDS15045.1
      UniProtKB/Swiss-Prot
      Q69ZP3
      Related
      ENSMUSP00000084477.6, ENSMUST00000087225.6
      Conserved Domains (3) summary
      TIGR03413
      Location:96 → 355
      GSH_gloB; hydroxyacylglutathione hydrolase
      pfam16123
      Location:267 → 355
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:98 → 266
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    3. NM_025580.2 → NP_079856.2  probable hydrolase PNKD isoform 2

      See identical proteins and their annotated locations for NP_079856.2

      Status: VALIDATED

      Source sequence(s)
      AC098570, AF318058, CK623847
      Consensus CDS
      CCDS35614.1
      UniProtKB/TrEMBL
      A0A0R4J1J1
      Related
      ENSMUSP00000109436.2, ENSMUST00000113805.8
      Conserved Domains (1) summary
      pfam15932
      Location:71 → 121
      DUF4748; Domain of unknown function (DUF4748)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      74323757..74392851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496167.4 → XP_006496230.1  probable hydrolase PNKD isoform X1

      Conserved Domains (1) summary
      TIGR03413
      Location:134 → 393
      GSH_gloB; hydroxyacylglutathione hydrolase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69ZP3.2 GenPept UniProtKB/Swiss-Prot:Q69ZP3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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