PRKRA - protein activator of interferon induced protein kinase EIF2AK2 Gene

Homo sapiens

Also known as RAX; PACT; DYT16; HSD14

Gene ID: 8575 | Gene type: protein coding

About PRKRA

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,431,414-178,451,175 (from NCBI)

This gene has 36 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 15.5), endometrium (RPKM 12.4) and 25 other tissues.

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]

PRKRA Products(4)

mRNA	Protein	Name
NM_001139517.1	NP_001132989.1	interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2
NM_001139518.1	NP_001132990.1	interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 3
NM_001316362.2	NP_001303291.1	interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 4
NM_003690.5	NP_003681.1	interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	23661684	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	23661684	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA
enables pre-miRNA binding	IDA IDA: Inferred from direct assay	23661684	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16424907	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	17452327	GOA
enables protein kinase activator activity	IDA IDA: Inferred from direct assay	29170442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RISC complex assembly	IDA IDA: Inferred from direct assay	23661684	GOA
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	26454002	GOA
involved in miRNA processing	IDA IDA: Inferred from direct assay	23661684	GOA
involved in pre-miRNA processing	IDA IDA: Inferred from direct assay	16424907	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	16424907	GOA
involved in siRNA processing	IDA IDA: Inferred from direct assay	17452327	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RISC-loading complex	IDA IDA: Inferred from direct assay	23661684	GOA
part of RISC-loading complex	IPI IPI: Inferred from physical interaction	23661684	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	22214662	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17452327	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRKRA Protein Structure

dsrm

0
100
200
313 a.a.

Protein Preferred Names

Protein Names

interferon-inducible double-stranded RNA-dependent protein kinase activator A

PKR-associated protein X

Related Diseases

Diseases

Alias

Dystonia 16

DYT16	Dyt-Prkra
Dystonia-16	Young-Onset Dystonia-
Early-Onset Dystonia Parkinsonism	Dystonia, Type 16

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Multifocal Dystonia

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Spasmodic Dystonia

Laryngeal Dystonia

Dystonia, Dopa-Responsive

Dystonia 5	Dopa-Responsive Dystonia
DRD	Dyt5
Dystonia-Parkinsonism With Diurnal Fluctuation	Dyt-Th
Hpd With Diurnal Fluctuation	Hereditary Progressive Dystonia With Diurnal Fluctuation
Dystonia, Progressive, With Diurnal Variation	Segawa Syndrome, Autosomal Dominant
Dystonia, Dopa-Responsive, Autosomal Dominant	Dopa-Responsive Dystonia, Autosomal Dominant
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia	Dyt-Gch1
Dyt-Spr	Dystonia 5, Dopa-Responsive Type
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation	Autosomal Dominant Dopa-Responsive Dystonia
Autosomal Dominant Segawa Syndrome	Dystonia-5
Progressive Dystonia With Diurnal Fluctuation	Dystonia, Type 5, Dopa-Responsive Type

Middle East Respiratory Syndrome

Mers	Mers - [Middle East Respiratory Syndrome]

Cervical Dystonia

Spasmodic Torticollis

Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3	RCDP3
Alkyldihydroxyacetonephosphate Synthase Deficiency	Alkylglycerone-Phosphate Synthase Deficiency
Agps Deficiency	Rhizomelic Chondrodysplasia Punctata 3
Chondrodysplasia Punctata, Rhizomelic, Type 3

Segmental Dystonia

Acute Ethmoiditis

Acute Ethmoidal Sinusitis	Acute Ethmoid Sinusitis
Ethmoidal Sinus - Acute

Dystonia 3, Torsion, X-Linked

X-Linked Dystonia-Parkinsonism	DYT3
Xdp	Lubag
Dystonia-Parkinsonism, X-Linked	Torsion Dystonia-Parkinsonism, Filipino Type
Dyt-Taf1	X-Linked Dystonia-Parkinsonism Syndrome
X-Linked Torsion Dystonia-Parkinsonism Syndrome	Dystonia Musculorum Deformans
X-Linked Dystonia-Parkinsonism/Lubag	Lubag Syndrome
Dystonia-3	Torsion Dystonia-Parkinsonism Filipino Type
X-Linked Torsion Dystonia 3	Dystonia, Torsion, X-Linked, Type 3

Deafness, Autosomal Recessive 109

DFNB109	Autosomal Recessive Nonsyndromic Deafness 109
Autosomal Recessive Deafness 109	Deafness, Autosomal Recessive, 109

Focal Dystonia

Dystonia, Focal, Task-Specific

Paraneoplastic Polyneuropathy

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

Leukodystrophy, Hypomyelinating, 6

Habc	Hypomyelinating Leukodystrophy 6
HLD6	H-Abc
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum	HLD
Leukodystrophy, Hypomyelinating, Type 6

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Movement Disease

Movement Disorders

Movement Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11157	PRKRA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PRKRA	MGD	MGI:1344375
Rattus norvegicus	PRKRA	RGD	RGD:1306707
Canis familiaris	PRKRA	VGNC	VGNC:44991
Bos taurus	PRKRA	VGNC	VGNC:33343
Macaca mulatta	PRKRA	VGNC	VGNC:76421
Felis catus	PRKRA	VGNC	VGNC:69073

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