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

Gene ID: 8575, updated on 12-May-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
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (178431414..178451231, 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 nudC nucelar distribution protein 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    178431414..178451231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246921.3XP_005246978.1  

    See identical proteins and their annotated locations for XP_005246978.1

    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, ...
  2. XM_011512065.1XP_011510367.1  

    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, ...
  3. 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, ...
  4. XM_011512064.1XP_011510366.1  

    See identical proteins and their annotated locations for XP_011510366.1

    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, ...
  5. 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, ...

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    179302152..179321965 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)