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

Gene ID: 56695, updated on 21-Aug-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 hydrolase 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 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, Apr 2022]
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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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. 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
  2. [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
  3. 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
  4. Overexpression of myofibrillogenesis regulator-1 aggravates cardiac hypertrophy induced by angiotensin II in mice. Li HL, et al. Hypertension, 2007 Jun. PMID 17420335
  5. 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

See all (28) 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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
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

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