• Gene id: 25953

Gene Summary

• Gene Symbol: PNKD   Gene   UCSC   Ensembl
• Aliases: BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2
• Gene name: PNKD metallo-beta-lactamase domain containing
• Alternate names: probable hydrolase PNKD, PNKD, MBL domain containing, brain protein 17, myofibrillogenesis regulator 1, trans-activated by hepatitis C virus core protein 2,
• Gene location: 2q35 (218270484: 218346792)     Exons: 12     NC_000002.12
• Gene summary(Entrez): 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. [provi
• OMIM: 609023

Protein Summary

• Protein general information: Q8N490  
  • Name: Probable hydrolase PNKD (EC 3. . . ) (Myofibrillogenesis regulator 1) (MR 1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans activated by hepatitis C virus core protein 2)
  • Length: 385  
  • Mass: 42876
  • 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
• Sequence:

  MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPELEYIPRKRGKNPMKAV
  GLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVKVLPIPVLSDNYSYLIIDTQAQLAVAVDPSD
  PRAVQASIEKEGVTLVAILCTHKHWDHSGGNRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGRLQIRALA
  TPGHTQGHLVYLLDGEPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLGLGDDTLLWPGHEYAEENLGF
  AGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLALQEALGPGPGPTGDDDYSRAQLLEEL
  RRLKDMHKSK

• Structural information:
  • Interpro: IPR035680  IPR032282  IPR017782  IPR001279  IPR036866  
  • CDD: cd07723
  • STRING: ENSP00000273077
• Other Databases: GeneCards:  PNKD  Malacards:  PNKD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046929	negative regulation of neurotransmitter secretion	IMP	biological process
GO:0004416	hydroxyacylglutathione hydrolase activity	IEA	molecular function
GO:0019243	methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0046929	negative regulation of neurotransmitter secretion	IEA	biological process
GO:0042053	regulation of dopamine metabolic process	IEA	biological process
GO:0032225	regulation of synaptic transmission, dopaminergic	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)