PRKRA

This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq]

Full Name

PRKRA

Function

Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity).

Biological Process

Cellular response to oxidative stressIEA:Ensembl
Immune responseManual Assertion Based On ExperimentTAS:ProtInc
Middle ear morphogenesisIEA:Ensembl
miRNA processingManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of cell population proliferationManual Assertion Based On ExperimentTAS:ProtInc
Outer ear morphogenesisIEA:Ensembl
Positive regulation of intrinsic apoptotic signaling pathwayIEA:Ensembl
Pre-miRNA processingManual Assertion Based On ExperimentIDA:BHF-UCL
Protein phosphorylationIEA:Ensembl
Protein stabilizationManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of production of small RNA involved in gene silencing by RNAManual Assertion Based On ExperimentIBA:GO_Central
Response to virusManual Assertion Based On ExperimentTAS:ProtInc
siRNA processingManual Assertion Based On ExperimentIDA:UniProtKB
Skeletal system morphogenesisIEA:Ensembl

Cellular Location

Cytoplasm, perinuclear region
Cytoplasm

Involvement in disease

Dystonia 16 (DYT16):
An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features.

PTM

Phosphorylated at Ser-246 in unstressed cells and at Ser-287 in stressed cells. Phosphorylation at Ser-246 appears to be a prerequisite for subsequent phosphorylation at Ser-287. Phosphorylation at Ser-246 and Ser-287 are necessary for activation of EIF2AK2/PKR under conditions of stress.