Homo sapiens Gene: PNKD
Summary
InnateDB Gene IDBG-80893.5
Last Modified 2012-02-14 [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
paroxysmal nonkinesigenic dyskinesia
paroxysmal nonkinesigenic dyskinesia
paroxysmal nonkinesigenic dyskinesia
paroxysmal nonkinesigenic dyskinesia
Protein Structure
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 2:219135115-219211516
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 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [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
GO:0016787 hydrolase activity
Biological Process
GO:0006750 glutathione biosynthetic process
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q8N490
TrEMBL
UniProt Splice Variant
Entrez Gene 25953
UniGene Hs.98475
RefSeq NM_001077399 NM_015488 NM_022572
HUGO 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
ImmGen PNKD (murine)
RNA Seq Atlas 25953