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
IDBP-80895 paroxysmal nonkinesigenic dyskinesia
IDBP-80897 paroxysmal nonkinesigenic dyskinesia
IDBP-80899 paroxysmal nonkinesigenic dyskinesia
IDBP-388879 paroxysmal nonkinesigenic dyskinesia
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
Accession GO Term
Molecular Function
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
ENSMUSG00000026179 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000003936 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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