Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 8575, updated on 15-Jun-2016
    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 HPRD:04573; MIM:603424; Vega:OTTHUMG00000132576
    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]
    Orthologs
    Location:
    2q31.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (178431414..178451240, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179296141..179315958, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene oxysterol binding protein like 6 Neighboring gene uncharacterized LOC101927027 Neighboring gene deafness, autosomal recessive 59 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene FK506 binding protein 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dystonia 16
    MedGen: C2677567 OMIM: 612067 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    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

    • Ceramide signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Ceramide signaling pathway, organism-specific biosystem
      Ceramide signaling pathway
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Gene Silencing by RNA, organism-specific biosystem (from REACTOME)
      Gene Silencing by RNA, organism-specific biosystemIn this module, the biology of various types of regulatory non-coding RNAs are described. Currently, biogenesis and functions of small interfering RNAs (siRNAs) and microRNAs are annotated.
    • MicroRNA (miRNA) biogenesis, organism-specific biosystem (from REACTOME)
      MicroRNA (miRNA) biogenesis, organism-specific biosystemBiogenesis of microRNAs (miRNAs) can be summarized in five steps (reviewed in Ketting 2011, Nowotny and Yang 2009, Kim et al. 2009, Chua et al. 2009, Hannon and He 2004):1. Transcription. miRNA trans...
    • Small interfering RNA (siRNA) biogenesis, organism-specific biosystem (from REACTOME)
      Small interfering RNA (siRNA) biogenesis, organism-specific biosystemSmall interfering RNAs (siRNAs) are 21-25 nucleotide single-stranded RNAs produced by cleavage of longer double-stranded RNAs by the enzyme DICER1 within the RISC loading complex containing DICER1, a...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    gene silencing by RNA TAS
    Traceable Author Statement
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    middle ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    outer ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    pre-miRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    production of miRNAs involved in gene silencing by miRNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    production of siRNA involved in RNA interference IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    response to virus TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    interferon-inducible double-stranded RNA-dependent protein kinase activator A
    Names
    PKR-associated protein X
    PKR-associating protein X
    interferon-inducible double stranded RNA-dependent protein kinase activator A
    protein activator of the interferon-induced protein kinase
    protein kinase, interferon-inducible double stranded RNA dependent activator
    protein kinase, interferon-inducible double stranded RNA-dependent activator
    protein kinase, interferon-inducible double-stranded RNA-dependent activator

    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
      5001..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, OTTHUMP00000205652, ENST00000432031, OTTHUMT00000335172
      Conserved Domains (1) summary
      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, OTTHUMP00000225032, ENST00000487082, OTTHUMT00000335166
      Conserved Domains (1) summary
      cd00048
      Location:101167
      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, ...
    3. NM_001316362.1NP_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
      UniProtKB/TrEMBL
      B4DJC7
      Conserved Domains (1) summary
      cd00048
      Location:1379
      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, ...
    4. NM_003690.4NP_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
      O75569
      Related
      ENSP00000318176, OTTHUMP00000163394, ENST00000325748, OTTHUMT00000255782
      Conserved Domains (1) summary
      cd00048
      Location:126192
      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, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      178431414..178451240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512063.1XP_011510365.1  

      See identical proteins and their annotated locations for XP_011510365.1

      Conserved Domains (1) summary
      cd00048
      Location:41107
      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. XM_017005159.1XP_016860648.1  

    3. XM_011512066.1XP_011510368.1  

      See identical proteins and their annotated locations for XP_011510368.1

      UniProtKB/TrEMBL
      B4DJC7
      Conserved Domains (1) summary
      cd00048
      Location:1379
      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, ...

    RNA

    1. XR_001739008.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      179302152..179321974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)