Version 5.4
Homo sapiens Protein: PNKD
Summary
InnateDB Protein IDBP-388879.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNKD
Protein Name paroxysmal nonkinesigenic dyskinesia
Synonyms BRP17; DYT8; FPD1; KIPP1184; MR-1; MR1; PDC; PKND1; TAHCCP2;
Species Homo sapiens
Ensembl Protein ENSP00000414400
InnateDB Gene IDBG-80893 (PNKD)
Protein Structure
UniProt Annotation
Function Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway. {ECO:0000250}.
Subcellular Localization Isoform 1: Membrane; Peripheral membrane protein.Isoform 2: Cytoplasm. Nucleus.Isoform 3: Mitochondrion.
Disease Associations Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non- kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. {ECO:0000269PubMed:15262732, ECO:0000269PubMed:15824259, ECO:0000269PubMed:16632198, ECO:0000269PubMed:16717228, ECO:0000269PubMed:16972263}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only. {ECO:0000269PubMed:15188056, ECO:0000269PubMed:15262732, ECO:0000269PubMed:15496428}.
Comments
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
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR001279 Beta-lactamase-like
IPR017782 Hydroxyacylglutathione hydrolase
PFAM PF00753
PRINTS
PIRSF PIRSF005457
SMART SM00849
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N490
PhosphoSite PhosphoSite-Q8N490
TrEMBL
UniProt Splice Variant
Entrez Gene 25953
UniGene Hs.98475
RefSeq
HUGO HGNC:9153
OMIM 609023
CCDS
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

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