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Rabbit Anti-PACT(PKR activating protein)/PRKRA antibody
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, Nov 2008
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.
Subunit:
Homodimer. Interacts with EIF2AK2/PKR through its DRBM domains. Interacts with DICER1, AGO2 and TARBP2. Also able to interact with dsRNA. Interacts with UBC9 (By similarity). Forms a complex with UBC9 and p53/TP53 (By similarity). Interacts with DUS2L (via DRBM domain).
Subcellular Location:
Cytoplasm > perinuclear region.
Post-translational modifications:
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.
DISEASE:
Defects in PRKRA are the cause of dystonia type 16 (DYT16) [MIM:612067]. DYT16 is 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.
Similarity:
Belongs to the PRKRA family.
Contains 3 DRBM (double-stranded RNA-binding) domains.
SWISS:
O75569
Gene ID:
8575
Database links:
Entrez Gene: 8575 Human
Entrez Gene: 23992 Mouse
Entrez Gene: 311130 Rat
Omim: 603424 Human
SwissProt: O75569 Human
SwissProt: Q9WTX2 Mouse
SwissProt: Q4V8C7 Rat
Unigene: 570274 Human
Unigene: 277250 Mouse
Unigene: 3217 Rat
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