Version 5.4
Mus musculus Gene: Pnkd
Summary
InnateDB Gene IDBG-166610.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pnkd
Gene Name paroxysmal nonkinesiogenic dyskinesia
Synonyms 2210013N15Rik; 2810403H05Rik; AI854243; Brp17; MNCb-5687; MR-1; Tahccp2
Species Mus musculus
Ensembl Gene ENSMUSG00000026179
Encoded Proteins
IDBP-166612
paroxysmal nonkinesiogenic dyskinesia
IDBP-166614
paroxysmal nonkinesiogenic dyskinesia
IDBP-166616
paroxysmal nonkinesiogenic dyskinesia
IDBP-253087
paroxysmal nonkinesiogenic dyskinesia
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000127838:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:74284930-74353694
Strand Forward strand
Band C3
Transcripts
ENSMUST00000027370 ENSMUSP00000027370
ENSMUST00000087226 ENSMUSP00000084478
ENSMUST00000087225 ENSMUSP00000084477
ENSMUST00000113805 ENSMUSP00000109436
ENSMUST00000129219
ENSMUST00000138620
ENSMUST00000152492
ENSMUST00000190398
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0004416 hydroxyacylglutathione hydrolase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
Biological Process
GO:0006750 glutathione biosynthetic process
GO:0032225 regulation of synaptic transmission, dopaminergic
GO:0042053 regulation of dopamine metabolic process
GO:0050884 neuromuscular process controlling posture
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0016020 membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000127838
View Gene Order
ENSBTAG00000003936
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.384726 Mm.415421
RefSeq NM_001039509 NM_019999 NM_025580 XM_006496167
OMIM
CCDS CCDS15045 CCDS35613 CCDS35614
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca