Version 5.4
Homo sapiens Gene: PNKD
Summary
InnateDB Gene IDBG-80893.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNKD
Gene Name paroxysmal nonkinesigenic dyskinesia
Synonyms BRP17; DYT8; FPD1; KIPP1184; MR-1; MR1; PDC; PKND1; TAHCCP2
Species Homo sapiens
Ensembl Gene ENSG00000127838
Encoded Proteins
IDBP-80895
paroxysmal nonkinesigenic dyskinesia
IDBP-80897
paroxysmal nonkinesigenic dyskinesia
IDBP-80899
paroxysmal nonkinesigenic dyskinesia
IDBP-388879
paroxysmal nonkinesigenic dyskinesia
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:218270392-218346793
Strand Forward strand
Band q35
Transcripts
ENST00000248451 ENSP00000248451
ENST00000273077 ENSP00000273077
ENST00000258362 ENSP00000258362
ENST00000436005 ENSP00000414400
ENST00000469689
ENST00000472650
ENST00000494954
ENST00000483797
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004416 hydroxyacylglutathione hydrolase activity
GO:0008270 zinc ion binding
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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026179
View Gene Order
ENSBTAG00000003936
Not yet available
Cross-References
SwissProt Q8N490
TrEMBL A0A024R415
UniProt Splice Variant
Entrez Gene 25953
UniGene Hs.98475
RefSeq NM_015488 NM_001077399 NM_022572
HUGO HGNC:9153
OMIM 609023
CCDS CCDS2411 CCDS2413 CCDS42816
HPRD 11369
IMGT
EMBL AB033010 AF318057 AF390031 AF417001 AK289867 AL080092 AL137675 AY039043 AY358753 BC002937 BC021118 BC036457 CH471063
GenPept AAH02937 AAH21118 AAH36457 AAK83449 AAL08573 AAL25716 AAM73649 AAQ89113 BAA86498 BAF82556 CAB45707 CAB70870 EAW70602 EAW70604 EAW70606
RNA Seq Atlas 25953

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