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

    Gene ID: 8575, updated on 7-Jan-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 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
     
    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

    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)

    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_001139517.1NP_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:2489
      DSRM; Double-stranded RNA binding motif
      cd00048
      Location:115181
      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_001139518.1NP_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:777
      DSRM_PRKRA_rpt1; first double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
      cd19891
      Location:101167
      DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
      cd19892
      Location:214285
      DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    3. NM_001316362.2NP_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
      A0A7I2V3J2, B4DJC7
      Related
      ENSP00000504030.1, ENST00000678775.1
      Conserved Domains (2) summary
      cd19891
      Location:1379
      DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
      cd19892
      Location:126197
      DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    4. NM_003690.5NP_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:32102
      DSRM_PRKRA_rpt1; first double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
      cd19891
      Location:126192
      DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
      cd19892
      Location:239310
      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_011512063.3XP_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, A0A7I2V3J2
      Related
      ENSP00000502919.1, ENST00000677689.1
      Conserved Domains (2) summary
      cd19891
      Location:41107
      DSRM_PRKRA_rpt2; second double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
      cd19892
      Location:154225
      DSRM_PRKRA_rpt3; third double-stranded RNA binding motif of protein activator of the interferon-induced protein kinase (PRKRA) and similar proteins
    2. XM_047446138.1XP_047302094.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X1

      UniProtKB/TrEMBL
      A0A7I2V5H3, A0A7I2YQ87
      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_054344302.1XP_054200277.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X2

      UniProtKB/TrEMBL
      A0A7I2V2I8, A0A7I2V3J2
    2. XM_054344303.1XP_054200278.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X3

      UniProtKB/TrEMBL
      A0A7I2V3J2, B4DJC7
    3. XM_054344301.1XP_054200276.1  interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform X1

      UniProtKB/TrEMBL
      A0A7I2V5H3, A0A7I2YQ87