ID:PNKD_HUMAN DESCRIPTION: RecName: Full=Probable hydrolase PNKD; EC=3.-.-.-; AltName: Full=Myofibrillogenesis regulator 1; Short=MR-1; AltName: Full=Paroxysmal nonkinesiogenic dyskinesia protein; AltName: Full=Trans-activated by hepatitis C virus core protein 2; FUNCTION: Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway (By similarity). SUBUNIT: Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3. SUBCELLULAR LOCATION: Isoform 1: Membrane; Peripheral membrane protein. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus. SUBCELLULAR LOCATION: Isoform 3: Mitochondrion. 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. INDUCTION: By Hepatitis C virus core protein. PTM: Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PNKD are the cause of dystonia type 8 (DYT8) [MIM:118800]. DYT8 is a paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT8 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. SIMILARITY: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PNKD";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N490
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione GO:0032225 regulation of synaptic transmission, dopaminergic GO:0042053 regulation of dopamine metabolic process GO:0046929 negative regulation of neurotransmitter secretion GO:0050884 neuromuscular process controlling posture
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
