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

Gene ID: 56695, updated on 21-Apr-2024

Summary

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
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Genomic context

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

Expression

  • Project title: 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

Variation

Alleles

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

General gene information

Markers

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 
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

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_001039509.1NP_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:121380
    GSH_gloB; hydroxyacylglutathione hydrolase
  2. NM_019999.2NP_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:96355
    GSH_gloB; hydroxyacylglutathione hydrolase
    pfam16123
    Location:267355
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    cd07723
    Location:98266
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
  3. NM_025580.2NP_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:71121
    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_006496167.4XP_006496230.1  probable hydrolase PNKD isoform X1

    Conserved Domains (1) summary
    TIGR03413
    Location:134393
    GSH_gloB; hydroxyacylglutathione hydrolase