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

    Gene ID: 56695, updated on 11-Mar-2018

    Summary

    Official Symbol
    Pnkdprovided by MGI
    Official Full Name
    paroxysmal nonkinesiogenic dyskinesiaprovided by MGI
    Primary source
    MGI:MGI:1930773
    See related
    Ensembl:ENSMUSG00000026179 Vega:OTTMUSG00000021729
    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; AI854243; MNCb-5687; 2210013N15Rik; 2810403H05Rik
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 30.7), liver adult (RPKM 26.6) and 28 other tissues See more
    Orthologs

    Genomic context

    See Pnkd in Genome Data Viewer
    Location:
    1; 1 C3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (74284599..74353692)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (74331608..74400266)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes 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 ciliogenesis associated TTC17 interacting protein Neighboring gene solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1

    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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydroxyacylglutathione hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    mitochondrion HDA PubMed 
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    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
      Q69ZP3
      Related
      ENSMUSP00000027370.6, OTTMUSP00000024291, ENSMUST00000027370.12, OTTMUST00000051553
      Conserved Domains (1) summary
      cl25711
      Location:121380
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    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
      ENSMUSP00000084477.5, OTTMUSP00000024301, ENSMUST00000087225.5, OTTMUST00000051563
      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/Swiss-Prot
      Q69ZP3
      UniProtKB/TrEMBL
      A0A0R4J1J1
      Related
      ENSMUSP00000109436.1, OTTMUSP00000024293, ENSMUST00000113805.7, OTTMUST00000051555
      Conserved Domains (1) summary
      pfam15932
      Location:71121
      DUF4748; Domain of unknown function (DUF4748)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      74284599..74353692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496167.3XP_006496230.1  probable hydrolase PNKD isoform X1

      Conserved Domains (3) summary
      TIGR03413
      Location:134393
      GSH_gloB; hydroxyacylglutathione hydrolase
      pfam16123
      Location:305393
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:136304
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
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