About   Help   FAQ
Pnkd
Gene Detail
 Symbol
Name
ID
Pnkd
paroxysmal nonkinesiogenic dyskinesia
MGI:1930773
Synonyms 2210013N15Rik, 2810403H05Rik, Brp17
Feature Type protein coding gene
Genetic Map
Chromosome 1
38.53 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:74284930-74353694 bp, + strand
From VEGA annotation of GRCm38

  68765 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:75045  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Pnkd

Human
homologs
Human Homolog PNKD, paroxysmal nonkinesigenic dyskinesia
NCBI Gene ID 25953
neXtProt AC  NX_Q8N490
Human Synonyms  BRP17, DYT8, FPD1, KIPP1184, MR1, MR-1, PDC, PKND1, TAHCCP2
Human Chr (Location)  2q35; chr2:218270392-218346793 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PNKD
Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Gene trapped(26) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol.
 
Interactions
Pnkd interacts with 258 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process glutathione biosynthetic process, neuromuscular process controlling posture, ...
Component cytoplasm, membrane, ...
Function coenzyme F390-A hydrolase activity, coenzyme F390-G hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (42)    Tissues (28)    Images (13)
Theiler Stages: 19, 23, 28
Assay TypeResults
RNA in situ 42
cDNA source data(110)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(110) cDNA(110)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000021729 (Evidence)
Ensembl Gene ModelENSMUSG00000026179 (Evidence)
Entrez Gene56695 (Evidence)
UniGene384726
DFCITC1577267, TC1580873, TC1612194, TC1722097
NIA Mouse Gene IndexU000444, U137204, U267733
EC3.-.-.-
Consensus CDS ProjectCCDS15045.1, CCDS35613.1, CCDS35614.1
International Mouse Knockout Project StatusPnkd
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021729 VEGA Gene Model | MGI Sequence Detail 68765 C57BL/6J ±  kb
transcript OTTMUST00000051554 VEGA | MGI Sequence Detail 3054 Not Applicable 
polypeptide OTTMUSP00000024292 VEGA | MGI Sequence Detail 424 Not Applicable 

For the selected sequences
All sequences(72) RefSeq(8) UniProt(1)
Polymorphisms SNPs within 2kb(289 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001279 Beta-lactamase-like
InterPro IPR017782 Hydroxyacylglutathione hydrolase
Protein Ontology PR:000031465 probable hydrolase PNKD
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:192798 Lee HY, et al., Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest. 2012 Feb 1;122(2):507-18
All references(42)
Other
accession IDs
MGI:1913716, MGI:1924205, MGI:2146944

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/19/2014
MGI 5.19
The Jackson Laboratory