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

Gene ID: 100188944, updated on 13-Apr-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
Ensembl: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 hydrolase 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. 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
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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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
    ENSRNOP00000049462.3, ENSRNOT00000046229.5
    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
    ENSRNOP00000020048.2, ENSRNOT00000020049.5
    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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