Gene Ontology annotation through association of InterPro records with GO terms
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
RGD ISO annotations to rat from other mammalian species
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
-
Human PNKD-L hydrolyses S-D-lactoylglutathione only at a trace rate and does not rescue HAGH-null Drosophila; SLG is not its physiological substrate.
"PNKD-L has extremely low but consistent SLG hydrolysis activity"
-
The N-terminus of wild-type PNKD-L is cleaved; disease mutations block cleavage and destabilize the protein.
"The mutant PNKD-L isoform is resistant to N-terminal cleavage and is less stable than the WT protein."
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
-
Mouse Pnkd-L binds RIM1/RIM2, localizes to presynaptic terminals, and overexpressed PNKD suppresses synaptic-vesicle exocytosis (assayed in cultured rat hippocampal neurons with exogenous constructs).
"Overexpressed PNKD protein suppresses release, and mutant PNKD protein is less effective than wild-type at inhibiting exocytosis."
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
-
MR-1L and MR-1S are imported into mitochondria through a cleavable 39-residue N-terminal MTS, while MR-1M localizes to Golgi, ER and plasma membrane.
"both MR-1L and MR-1S isoforms are mitochondrial proteins"
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
-
MR-1L is brain-specific and at the cell membrane; MR-1S is ubiquitous and cytoplasmic/nuclear; PNKD is homologous to HAGH.
"The MR-1L isoform is specifically expressed in brain and is localized to the cell membrane"
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
-
Mice carrying the dominant disease mutations show dyskinesia and reduced striatal extracellular dopamine; one PNKD isoform is membrane-associated in neurons.
"One PNKD isoform is a membrane-associated"
MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.
Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle.
Myofibrillogenesis regulator 1 induces hypertrophy by promoting sarcomere organization in neonatal rat cardiomyocytes.
D3ZXB0 (rat Pnkd canonical) vs reviewed mouse/human PNKD isoforms