Pnkd - paroxysmal nonkinesiogenic dyskinesia Gene

Also Known as MR-1; Brp17; Tahccp2; MNCb-5687; 2210013N15Rik; 2810403H05Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 56695

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

probable hydrolase PNKD

  • brain protein 17

  • myofibrillogenesis regulator 1

  • paroxysmal nonkinesiogenic dyskinesia protein

  • trans-activated by hepatitis C virus core protein 2

Orthologs Information

Species Symbol Source ID
Homo sapiens Pnkd NCBI NCBI:25953