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PRKRA protein activator of interferon induced protein kinase EIF2AK2 [ Homo sapiens (human) ]

Gene ID: 8575, updated on 13-Apr-2024

Summary

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Official Symbol
PRKRAprovided by HGNC
Official Full Name
protein activator of interferon induced protein kinase EIF2AK2provided by HGNC
Primary source
HGNC:HGNC:9438
See related
Ensembl:ENSG00000180228 MIM:603424; AllianceGenome:HGNC:9438
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAX; PACT; DYT16; HSD14
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 15.5), endometrium (RPKM 12.4) and 25 other tissues See more
Orthologs
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Genomic context

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See PRKRA in Genome Data Viewer
Location:
2q31.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178431414..178451175, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178914206..178933968, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179296141..179315902, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179018955-179019456 Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12148 Neighboring gene Sharpr-MPRA regulatory region 8011 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179075951-179076528 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179076529-179077106 Neighboring gene oxysterol binding protein like 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179142162-179142662 Neighboring gene Sharpr-MPRA regulatory region 7285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179217195-179217695 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:179228225-179228383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16802 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179278150-179278725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179279303-179279877 Neighboring gene cholesterol induced regulator of metabolism RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179315058-179315632 Neighboring gene uncharacterized LOC124906102 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene pejvakin Neighboring gene FKBP prolyl isomerase 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PACT inhibits the replication of SARS-CoV-2 through the blockage of GSK-3β-N-nsp3 cascade. Lin YY, et al. J Med Virol, 2023 Jun. PMID 37264691
  2. PACT promotes the metastasis of basal-like breast cancer through Rac1 SUMOylation and activation. Wei L, et al. Oncogene, 2022 Sep. PMID 35974143
  3. DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction. Vaughn LS, et al. Biomolecules, 2022 May 17. PMID 35625640, Free PMC Article
  4. Novel lncRNA AL033381.2 Promotes Hepatocellular Carcinoma Progression by Upregulating PRKRA Expression. Wang F, et al. Oxid Med Cell Longev, 2022. PMID 35035655, Free PMC Article
  5. High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1). Neault N, et al. PLoS One, 2021. PMID 34520479, Free PMC Article

See all (177) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PACT inhibits the replication of SARS-CoV-2 through the blockage of GSK-3beta-N-nsp3 cascade.
    Title: PACT inhibits the replication of SARS-CoV-2 through the blockage of GSK-3β-N-nsp3 cascade.
  2. PACT promotes the metastasis of basal-like breast cancer through Rac1 SUMOylation and activation.
    Title: PACT promotes the metastasis of basal-like breast cancer through Rac1 SUMOylation and activation.
  3. DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
    Title: DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
  4. SARS-CoV-2 NSP5 and N protein counteract the RIG-I signaling pathway by suppressing the formation of stress granules.
    Title: SARS-CoV-2 NSP5 and N protein counteract the RIG-I signaling pathway by suppressing the formation of stress granules.
  5. A tale of two proteins: PACT and PKR and their roles in inflammation.
    Title: A tale of two proteins: PACT and PKR and their roles in inflammation.
  6. High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1).
    Title: High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1).
  7. Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2alpha signaling leading to a compromised stress response.
    Title: Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.
  8. Opposite actions of two dsRNA-binding proteins PACT and TRBP on RIG-I mediated signaling.
    Title: Opposite actions of two dsRNA-binding proteins PACT and TRBP on RIG-I mediated signaling.
  9. A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
    Title: A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
  10. LGP2 binds to PACT to regulate RIG-I- and MDA5-mediated antiviral responses.
    Title: LGP2 binds to PACT to regulate RIG-I- and MDA5-mediated antiviral responses.
Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dystonia 16
MedGen: C2677567 OMIM: 612067 GeneReviews: Hereditary Dystonia Overview
Compare labs

EBI GWAS Catalog

Description
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev binds TRBP/PACT complex and the binding requires the arginine rich motif (residues 35-50) of HIV-1 Rev PubMed
Tat tat HIV-1 Tat binds TRBP/PACT complex and the binding requires the arginine rich motif (residues 48-58) of HIV-1 Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables double-stranded RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme activator activity TAS
Traceable Author Statement
more info
 PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pre-miRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables siRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in RISC complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in antiviral innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in outer ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in pre-miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of regulatory ncRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to virus TAS
Traceable Author Statement
more info
 PubMed 
involved_in siRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in siRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of RISC complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RISC-loading complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RISC-loading complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of RISC-loading complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
interferon-inducible double-stranded RNA-dependent protein kinase activator A
Names
PKR-associated protein X
PKR-associating protein X
protein activator of the interferon-induced protein kinase
protein kinase, interferon-inducible double-stranded RNA-dependent activator

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009053.1 RefSeqGene

    Range
    5057..24818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001139517.1 → NP_001132989.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2

    See identical proteins and their annotated locations for NP_001132989.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. This difference causes translation initiation at a downstream AUG and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC009948, AL833867
    Consensus CDS
    CCDS46460.1
    UniProtKB/Swiss-Prot
    O75569
    Related
    ENSP00000393883.2, ENST00000432031.6
    Conserved Domains (2) summary
    smart00358
    Location:24 → 89
    DSRM; Double-stranded RNA binding motif
    cd00048
    Location:115 → 181
    DSRM; Double-stranded RNA binding motif. Binding is not sequence specific but is highly specific for double stranded RNA. Found in a variety of proteins including dsRNA dependent protein kinase PKR, RNA helicases, Drosophila staufen protein, E. coli RNase III, ...

  2. NM_001139518.1 → NP_001132990.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 3

    See identical proteins and their annotated locations for NP_001132990.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. This difference causes translation initiation at a downstream AUG and an isoform (3) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC009948, AY251164
    Consensus CDS
    CCDS46461.1
    UniProtKB/Swiss-Prot
    O75569
    Related
    ENSP00000430604.1, ENST00000487082.5
    Conserved Domains (3) summary
    cd19889
    Location:7 → 77
    DSRM_PRKRA_rpt1; first double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    cd19891
    Location:101 → 167
    DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    cd19892
    Location:214 → 285
    DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins

  3. NM_001316362.2 → NP_001303291.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (4) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AA084317, AK296019, HY049565
    Consensus CDS
    CCDS92908.1
    UniProtKB/TrEMBL
    B4DJC7
    Related
    ENSP00000504030.1, ENST00000678775.1
    Conserved Domains (2) summary
    cd19891
    Location:13 → 79
    DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    cd19892
    Location:126 → 197
    DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins

  4. NM_003690.5 → NP_003681.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 1

    See identical proteins and their annotated locations for NP_003681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC009948, AK290601, BG827125
    Consensus CDS
    CCDS2279.1
    UniProtKB/Swiss-Prot
    A8K3I6, O75569, Q53G24, Q6X7T5, Q8NDK4
    Related
    ENSP00000318176.4, ENST00000325748.9
    Conserved Domains (3) summary
    cd19889
    Location:32 → 102
    DSRM_PRKRA_rpt1; first double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    cd19891
    Location:126 → 192
    DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    cd19892
    Location:239 → 310
    DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    178431414..178451175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512063.3 → XP_011510365.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X2

    See identical proteins and their annotated locations for XP_011510365.1

    UniProtKB/TrEMBL
    A0A7I2V2I8
    Related
    ENSP00000502919.1, ENST00000677689.1
    Conserved Domains (2) summary
    cd19891
    Location:41 → 107
    DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    cd19892
    Location:154 → 225
    DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins

  2. XM_047446138.1 → XP_047302094.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X1

    UniProtKB/TrEMBL
    A0A7I2V5H3
    Related
    ENSP00000504507.1, ENST00000677460.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    178914206..178933968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344302.1 → XP_054200277.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X2

    UniProtKB/TrEMBL
    A0A7I2V2I8

  2. XM_054344303.1 → XP_054200278.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X3

    UniProtKB/TrEMBL
    B4DJC7

  3. XM_054344301.1 → XP_054200276.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X1

    UniProtKB/TrEMBL
    A0A7I2V5H3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75569.1 GenPept UniProtKB/Swiss-Prot:O75569

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