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    Pnkd PNKD metallo-beta-lactamase domain containing [ Rattus norvegicus (Norway rat) ]

    Gene ID: 100188944, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pnkdprovided by RGD
    Official Full Name
    PNKD metallo-beta-lactamase domain containingprovided by RGD
    Primary source
    RGD:2300155
    See related
    EnsemblRapid:ENSRNOG00000014806 AllianceGenome:RGD:2300155
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Mr-1
    Summary
    Predicted to enable hydroxyacylglutathione hydrolase activity and metal ion binding activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. Predicted to act upstream of or within modulation of chemical synaptic transmission; neuromuscular process controlling posture; and regulation of dopamine metabolic process. Predicted to be located in membrane. Predicted to be active in mitochondrion and presynaptic cytosol. 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, Dec 2024]
    Expression
    Biased expression in Heart (RPKM 197.0), Kidney (RPKM 193.3) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pnkd in Genome Data Viewer
    Location:
    9q33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (83317757..83386263)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (75868620..75937126)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (81566074..81634531)

    Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC103690558 Neighboring gene actin related protein 2/3 complex, subunit 2 Neighboring gene G protein-coupled bile acid receptor 1 Neighboring gene angio-associated, migratory cell protein Neighboring gene transmembrane BAX inhibitor motif containing 1 Neighboring gene ciliogenesis associated TTC17 interacting protein Neighboring gene solute carrier family 11 member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Role of myofibrillogenesis regulator-1 in myocardial hypertrophy. Liu X, et al. Am J Physiol Heart Circ Physiol, 2006 Jan. PMID 16100249
    2. Myofibrillogenesis regulator-1 attenuated hypoxia/reoxygenation-induced apoptosis by inhibiting the PERK/Nrf2 pathway in neonatal rat cardiomyocytes. Tao TQ, et al. Apoptosis, 2015 Mar. PMID 25542256
    3. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. Lee HY, et al. J Clin Invest, 2012 Feb. PMID 22214848, Free PMC Article
    4. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. Shen Y, et al. Proc Natl Acad Sci U S A, 2015 Mar 10. PMID 25730884, Free PMC Article
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MR-1 attenuated hypoxia/reoxygenation-induced apoptosis by inhibiting the PERK/Nrf2 pathway in neonatal rat cardiomyocytes.
      Title: Myofibrillogenesis regulator-1 attenuated hypoxia/reoxygenation-induced apoptosis by inhibiting the PERK/Nrf2 pathway in neonatal rat cardiomyocytes.
    2. results demonstrate the functional role and direct effect of myofibrillogenesis regulator-1 (MR-1) in cardiac hypertrophy.
      Title: Role of myofibrillogenesis regulator-1 in myocardial hypertrophy.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC188259

    Gene Ontology Provided by RGD

    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
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of neurotransmitter secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular process controlling posture ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of dopamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of synaptic transmission, dopaminergic ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in presynaptic cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    probable hydrolase PNKD
    Names
    PNKD, MBL domain containing
    myofibrillogenesis regulator 1
    paroxysmal nonkinesigenic dyskinesia
    paroxysmal nonkinesiogenic dyskinesia
    NP_001128222.1
    NP_001128223.1
    NP_001128225.1

    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_001134750.1 → NP_001128222.1  probable hydrolase PNKD isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC168228, CK600421
      UniProtKB/TrEMBL
      A0A0G2K0M0
      Related
      ENSRNOP00000020048.3, ENSRNOT00000020049.6
      Conserved Domains (3) summary
      TIGR03413
      Location:121 → 380
      GSH_gloB; hydroxyacylglutathione hydrolase
      pfam16123
      Location:292 → 380
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:123 → 291
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    2. NM_001134751.1 → NP_001128223.1  probable hydrolase PNKD isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000009
      UniProtKB/TrEMBL
      A6JVU1, D3ZXB0
      Related
      ENSRNOP00000049462.4, ENSRNOT00000046229.6
      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_001134753.1 → NP_001128225.1  probable hydrolase PNKD isoform 3

      See identical proteins and their annotated locations for NP_001128225.1

      Status: VALIDATED

      Source sequence(s)
      AA924823, BC168228, BI395664
      UniProtKB/TrEMBL
      A6JVT5, M0RBK9
      Conserved Domains (1) summary
      pfam15932
      Location:71 → 120
      DUF4748; Domain of unknown function (DUF4748)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086027.1 Reference GRCr8

      Range
      83317757..83386263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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