PNKD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PNKD |
| Official Name | PNKD metallo-beta-lactamase domain containing [Source:HGNC Symbol;Acc:HGNC:9153] |
| Ensembl ID | ENSG00000127838 |
| Bio databases IDs | |
| Aliases | PNKD metallo-beta-lactamase domain containing, myofibrillogenesis regulator 1 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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