Pnkd Gene Summary [Mouse]
Predicted to enable hydroxyacylglutathione hydrolase activity and metal ion binding activity. Acts upstream of or within modulation of chemical synaptic transmission; neuromuscular process controlling posture; and regulation of dopamine metabolic process. Located in mitochondrion. Is active in presynaptic cytosol. Is expressed in central nervous system and retina. Used to study paroxysmal nonkinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in paroxysmal nonkinesigenic dyskinesia 1. Orthologous to human PNKD (PNKD metallo-beta-lactamase domain containing). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pnkd |
| Official Name | paroxysmal nonkinesiogenic dyskinesia [Source:MGI Symbol;Acc:MGI:1930773] |
| Ensembl ID | ENSMUSG00000026179 |
| Bio databases IDs | |
| Aliases | paroxysmal nonkinesiogenic dyskinesia |
| Synonyms | 2210013N15Rik, 2810403H05Rik, BRP17, DYT8, FKSG19, FPD1, KIPP1184, MNCb-5687, MR-1, MR-1S, MYOFIBRILLOGENESIS REGULATOR 1, paroxysmal nonkinesiogenic dyskinesia, PDC, PKND1, PNKD1, PNKD metallo-beta-lactamase domain containing, PNKD metallo-β-lactamase domain containing, R1, TAHCCP2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pnkd often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydroxyacylglutathione hydrolase
- Domain of unknown function (DUF4748)
- Metallo-beta-lactamase superfamily
- Hydroxyacylglutathione hydrolase C-terminus
- protein binding
- metallo-hydrolase-like_MBL-fold
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- ulcerative colitis
- colorectal cancer
- paroxysmal non-kinesigenic dyskinesia
- non-insulin-dependent diabetes mellitus
- inflammatory bowel disease
- Crohn disease
- colorectal adenoma
- colorectal adenoma formation
- cardiac fibrosis
regulated by
- AGT
- paclitaxel
- progesterone
- metribolone
- carboplatin
- xanthine derivative CB002 analog 4
role in cell
- exocytosis
- synaptic transmission
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- postsynaptic region
- cellular membrane
- Mitochondria
- presynaptic terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pnkd gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular process controlling posture
- regulation of dopamine metabolic process
- methylglyoxal catabolic process to D-lactate
- negative regulation of neurotransmitter secretion
- regulation of synaptic transmission, dopaminergic
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- membrane
Molecular Function
What the gene product does at the molecular level
- hydroxyacylglutathione hydrolase activity
- protein binding
- metal ion binding