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Aliases for PRKRA Gene

Aliases for PRKRA Gene

  • Protein Activator Of Interferon Induced Protein Kinase EIF2AK2 2 3
  • Protein Kinase, Interferon-Inducible Double Stranded RNA Dependent Activator 2 3 5
  • Protein Activator Of The Interferon-Induced Protein Kinase 2 3 4
  • Protein Kinase, Interferon-Inducible Double-Stranded RNA-Dependent Activator 3 4
  • PKR-Associating Protein X 3 4
  • PKR-Associated Protein X 3 4
  • PACT 3 4
  • RAX 3 4
  • Interferon-Inducible Double Stranded RNA-Dependent Protein Kinase Activator A 3
  • Protein Kinase, Interferon-Inducible Double Stranded RNA-Dependent Activator 3
  • DYT16 3
  • HSD14 3

External Ids for PRKRA Gene

Previous GeneCards Identifiers for PRKRA Gene

  • GC02M177358
  • GC02M177966
  • GC02M179260
  • GC02M179498
  • GC02M179121
  • GC02M179004

Summaries for PRKRA Gene

Entrez Gene Summary for PRKRA Gene

  • 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]

GeneCards Summary for PRKRA Gene

PRKRA (Protein Activator Of Interferon Induced Protein Kinase EIF2AK2) is a Protein Coding gene. Diseases associated with PRKRA include dystonia 16 and dystonia. Among its related pathways are Gene Expression and Mitotic Prophase. GO annotations related to this gene include poly(A) RNA binding and identical protein binding. An important paralog of this gene is TARBP2.

UniProtKB/Swiss-Prot for PRKRA Gene

  • 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).

Gene Wiki entry for PRKRA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKRA Gene

Genomics for PRKRA Gene

Regulatory Elements for PRKRA Gene

Promoters for PRKRA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRKRA on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PRKRA gene promoter:

Genomic Location for PRKRA Gene

Chromosome:
2
Start:
178,431,414 bp from pter
End:
178,451,512 bp from pter
Size:
20,099 bases
Orientation:
Minus strand

Genomic View for PRKRA Gene

Genes around PRKRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKRA Gene

Proteins for PRKRA Gene

  • Protein details for PRKRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75569-PRKRA_HUMAN
    Recommended name:
    Interferon-inducible double-stranded RNA-dependent protein kinase activator A
    Protein Accession:
    O75569
    Secondary Accessions:
    • A8K3I6
    • Q53G24
    • Q6X7T5
    • Q8NDK4

    Protein attributes for PRKRA Gene

    Size:
    313 amino acids
    Molecular mass:
    34404 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for PRKRA Gene

    Alternative splice isoforms for PRKRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKRA Gene

Proteomics data for PRKRA Gene at MOPED

Post-translational modifications for PRKRA Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PRKRA (PACT)

No data available for DME Specific Peptides for PRKRA Gene

Domains & Families for PRKRA Gene

Protein Domains for PRKRA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75569

UniProtKB/Swiss-Prot:

PRKRA_HUMAN :
  • Self-association may occur via interactions between DRBM domains as follows: DRBM 1/DRBM 1, DRBM 1/DRBM 2, DRBM 2/DRBM 2 or DRBM 3/DRBM3.
  • Belongs to the PRKRA family.
Domain:
  • Self-association may occur via interactions between DRBM domains as follows: DRBM 1/DRBM 1, DRBM 1/DRBM 2, DRBM 2/DRBM 2 or DRBM 3/DRBM3.
  • Contains 3 DRBM (double-stranded RNA-binding) domains.
Family:
  • Belongs to the PRKRA family.
genes like me logo Genes that share domains with PRKRA: view

No data available for Gene Families for PRKRA Gene

Function for PRKRA Gene

Molecular function for PRKRA Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for PRKRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with PRKRA: view
genes like me logo Genes that share phenotypes with PRKRA: view

Human Phenotype Ontology for PRKRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKRA Gene

MGI Knock Outs for PRKRA:

Animal Model Products

  • Taconic Biosciences Mouse Models for PRKRA

CRISPR Products

miRNA for PRKRA Gene

miRTarBase miRNAs that target PRKRA

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRKRA Gene

Localization for PRKRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKRA Gene

Cytoplasm, perinuclear region. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRKRA Gene COMPARTMENTS Subcellular localization image for PRKRA gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PRKRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PRKRA: view

Pathways & Interactions for PRKRA Gene

genes like me logo Genes that share pathways with PRKRA: view

Pathways by source for PRKRA Gene

Gene Ontology (GO) - Biological Process for PRKRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030422 production of siRNA involved in RNA interference IDA 17452327
GO:0031047 gene silencing by RNA TAS --
GO:0034599 cellular response to oxidative stress IEA --
GO:0035196 production of miRNAs involved in gene silencing by miRNA IDA 23661684
GO:0042473 outer ear morphogenesis IEA --
genes like me logo Genes that share ontologies with PRKRA: view

No data available for SIGNOR curated interactions for PRKRA Gene

Drugs & Compounds for PRKRA Gene

No Compound Related Data Available

Transcripts for PRKRA Gene

Unigene Clusters for PRKRA Gene

Protein kinase, interferon-inducible double stranded RNA dependent activator:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRKRA Gene

No ASD Table

Relevant External Links for PRKRA Gene

GeneLoc Exon Structure for
PRKRA
ECgene alternative splicing isoforms for
PRKRA

Expression for PRKRA Gene

mRNA expression in normal human tissues for PRKRA Gene

Protein differential expression in normal tissues from HIPED for PRKRA Gene

This gene is overexpressed in Fetal Brain (7.9) and Nasal epithelium (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRKRA Gene



SOURCE GeneReport for Unigene cluster for PRKRA Gene Hs.570274

genes like me logo Genes that share expression patterns with PRKRA: view

Protein tissue co-expression partners for PRKRA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKRA Gene

Orthologs for PRKRA Gene

This gene was present in the common ancestor of animals.

Orthologs for PRKRA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRKRA 35
  • 94.78 (n)
  • 98.08 (a)
PRKRA 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKRA 35
  • 96.06 (n)
  • 99.36 (a)
PRKRA 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkra 35
  • 90.31 (n)
  • 98.08 (a)
Prkra 16
Prkra 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRKRA 35
  • 100 (n)
  • 100 (a)
PRKRA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkra 35
  • 90.2 (n)
  • 97.76 (a)
oppossum
(Monodelphis domestica)
Mammalia PRKRA 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKRA 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKRA 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkra 35
  • 63.65 (n)
  • 58.25 (a)
Str.5894 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53736 35
zebrafish
(Danio rerio)
Actinopterygii prkra 35
  • 57.32 (n)
  • 55.68 (a)
prkra 36
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009781 35
  • 46.5 (n)
  • 39.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta loqs 35
  • 48.35 (n)
  • 43.22 (a)
loqs 36
  • 25 (a)
OneToMany
Species with no ortholog for PRKRA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRKRA Gene

ENSEMBL:
Gene Tree for PRKRA (if available)
TreeFam:
Gene Tree for PRKRA (if available)

Paralogs for PRKRA Gene

Paralogs for PRKRA Gene

(2) SIMAP similar genes for PRKRA Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PRKRA Gene

genes like me logo Genes that share paralogs with PRKRA: view

Variants for PRKRA Gene

Sequence variations from dbSNP and Humsavar for PRKRA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_046213 Dystonia 16 (DYT16)
rs2288320 -- 178,443,775(+) GGCCA(A/C)GAACA intron-variant
rs2288321 -- 178,443,793(+) AGTAG(C/G)GACAG intron-variant
rs3216708 -- 178,445,359(-) GTTGG(-/A)AAAAA intron-variant
rs3752689 -- 178,447,886(+) TATTA(C/T)ATAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRKRA Gene

Variant ID Type Subtype PubMed ID
nsv834467 CNV Loss 17160897
nsv820287 CNV Loss 19587683
nsv821814 CNV Loss 20364138
nsv821160 CNV Duplication 20802225
dgv679n67 CNV Gain 20364138
nsv821827 CNV Gain 20364138
esv24835 CNV Loss 19812545
esv2721190 CNV Deletion 23290073
dgv668e201 CNV Deletion 23290073
esv8989 CNV Loss 19470904
esv7371 CNV Loss 19470904
esv2721191 CNV Deletion 23290073
esv2721192 CNV Deletion 23290073
nsv819460 CNV Loss 19587683
esv9296 CNV Loss 19470904
esv2721193 CNV Deletion 23290073
esv2721194 CNV Deletion 23290073
nsv819025 CNV Loss 19587683
esv2721196 CNV Deletion 23290073
esv8450 CNV Loss 19470904

Variation tolerance for PRKRA Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.71; 86.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRKRA Gene

HapMap Linkage Disequilibrium report
PRKRA
Human Gene Mutation Database (HGMD)
PRKRA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKRA Gene

Disorders for PRKRA Gene

MalaCards: The human disease database

(4) MalaCards diseases for PRKRA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 16
  • dyt16
dystonia
  • dystonic disease
generalized dystonia
  • dystonia 12
microtia
- elite association - COSMIC cancer census association via MalaCards
Search PRKRA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRKRA_HUMAN
  • Dystonia 16 (DYT16) [MIM:612067]: 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. {ECO:0000269 PubMed:18243799, ECO:0000269 PubMed:18420150}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRKRA

Genetic Association Database (GAD)
PRKRA
Human Genome Epidemiology (HuGE) Navigator
PRKRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRKRA
genes like me logo Genes that share disorders with PRKRA: view

No data available for Genatlas for PRKRA Gene

Publications for PRKRA Gene

  1. RAX, a cellular activator for double-stranded RNA-dependent protein kinase during stress signaling. (PMID: 10336432) Ito T. … May W.S. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. TRBP control of PACT-induced phosphorylation of protein kinase R is reversed by stress. (PMID: 18936160) Daher A. … Gatignol A. (Mol. Cell. Biol. 2009) 3 23
  3. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. (PMID: 18243799) Camargos S. … Singleton A.B. (Lancet Neurol. 2008) 3 23
  4. Serine 18 phosphorylation of RAX, the PKR activator, is required for PKR activation and consequent translation inhibition. (PMID: 15299031) Bennett R.L. … May W.S. (J. Biol. Chem. 2004) 3 23
  5. PACT, a protein activator of the interferon-induced protein kinase, PKR. (PMID: 9687506) Patel R.C. … Sen G.C. (EMBO J. 1998) 2 3

Products for PRKRA Gene

Sources for PRKRA Gene

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