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    PNKD paroxysmal nonkinesigenic dyskinesia [ Homo sapiens (human) ]

    Gene ID: 25953, updated on 3-Dec-2017
    Official Symbol
    PNKDprovided by HGNC
    Official Full Name
    paroxysmal nonkinesigenic dyskinesiaprovided by HGNC
    Primary source
    HGNC:HGNC:9153
    See related
    Ensembl:ENSG00000127838 MIM:609023; Vega:OTTHUMG00000133110
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MR1; PDC; DYT8; FPD1; MR-1; BRP17; PKND1; PNKD1; FKSG19; TAHCCP2; KIPP1184
    Summary
    This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in prostate (RPKM 19.3), kidney (RPKM 16.6) and 25 other tissues See more
    Orthologs
    Location:
    2q35
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (218270392..218346793)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219135115..219211516)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes 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 microRNA 6513 Neighboring gene uncharacterized LOC105373881 Neighboring gene uncharacterized LOC105373880 Neighboring gene CATIP antisense RNA 2 Neighboring gene microRNA 6810 Neighboring gene ribosomal protein L19 pseudogene 5 Neighboring gene ciliogenesis associated TTC17 interacting protein Neighboring gene CATIP antisense RNA 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Paroxysmal choreoathetosis Compare labs

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1184, MGC31943, DKFZp564N1362

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    Process Evidence Code Pubs
    methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neurotransmitter secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuromuscular process controlling posture IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    probable hydrolase PNKD
    Names
    brain protein 17
    myofibrillogenesis regulator 1
    trans-activated by hepatitis C virus core protein 2
    NP_001070867.1
    NP_056303.3
    NP_072094.1
    XP_016859260.1
    XP_016859261.1

    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.

    Genomic

    1. NG_017060.1 RefSeqGene

      Range
      5001..81402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077399.2NP_001070867.1  probable hydrolase PNKD isoform 3 precursor

      See identical proteins and their annotated locations for NP_001070867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), alternately referred to as the short form (MR-1S), differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a frameshift in isoform 3, which has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF318057, BQ028777
      Consensus CDS
      CCDS42816.1
      UniProtKB/Swiss-Prot
      Q8N490
      Related
      ENSP00000248451.3, OTTHUMP00000207315, ENST00000248451.7, OTTHUMT00000338549
      Conserved Domains (1) summary
      pfam15932
      Location:71121
      DUF4748; Domain of unknown function (DUF4748)
    2. NM_015488.4NP_056303.3  probable hydrolase PNKD isoform 1 precursor

      See identical proteins and their annotated locations for NP_056303.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), alternately referred to as the long form (MR-1L), represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB033010, AF318057, BC002937, BC036457
      Consensus CDS
      CCDS2411.1
      UniProtKB/Swiss-Prot
      Q8N490
      UniProtKB/TrEMBL
      A0A024R415
      Related
      ENSP00000273077.4, OTTHUMP00000164142, ENST00000273077.8, OTTHUMT00000256775
      Conserved Domains (3) summary
      TIGR03413
      Location:121380
      GSH_gloB; hydroxyacylglutathione hydrolase
      pfam16123
      Location:292380
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:123291
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
    3. NM_022572.4NP_072094.1  probable hydrolase PNKD isoform 2

      See identical proteins and their annotated locations for NP_072094.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), alternately referred to as the medium form (MR-1M), differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC021016, BC002937, BC036457, BU553179
      Consensus CDS
      CCDS2413.1
      UniProtKB/Swiss-Prot
      Q8N490
      Related
      ENSP00000258362.3, OTTHUMP00000164143, ENST00000258362.7, OTTHUMT00000256776
      Conserved Domains (1) summary
      cl25711
      Location:97356
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      218270392..218346793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003771.1XP_016859260.1  probable hydrolase PNKD isoform X1

    2. XM_017003772.1XP_016859261.1  probable hydrolase PNKD isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      219141604..219218160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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