Pnkd - paroxysmal nonkinesiogenic dyskinesia Gene
Also Known as MR-1; Brp17; Tahccp2; MNCb-5687; 2210013N15Rik; 2810403H05Rik
Species: Mus musculus
Summary
Predicted to enable hydrolase 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 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, Apr 2022]
Pnkd Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001039509.1 | NP_001034598.1 | probable hydrolase PNKD isoform 3 |
| NM_019999.2 | NP_064383.1 | probable hydrolase PNKD isoform 1 |
| NM_025580.2 | NP_079856.2 | probable hydrolase PNKD isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25730884 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within negative regulation of neurotransmitter secretion |
IGI
IGI: Inferred from genetic interaction
|
25730884 | MGI |
| acts upstream of or within neuromuscular process controlling posture |
IMP
IMP: Inferred from mutant phenotype
|
22214848 | MGI |
| acts upstream of or within regulation of dopamine metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
22214848 | MGI |
| acts upstream of or within regulation of synaptic transmission, dopaminergic |
IMP
IMP: Inferred from mutant phenotype
|
22214848 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in presynaptic cytosol |
IDA
IDA: Inferred from direct assay
|
25730884 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
probable hydrolase PNKD |
|
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