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2024-03-29 21:26:47, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001139517            1906 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens protein kinase, interferon-inducible double stranded
            RNA dependent activator (PRKRA), transcript variant 2, mRNA.
ACCESSION   NM_001139517
VERSION     NM_001139517.1  GI:213417910
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1906)
  AUTHORS   Redfern,A.D., Colley,S.M., Beveridge,D.J., Ikeda,N., Epis,M.R.,
            Li,X., Foulds,C.E., Stuart,L.M., Barker,A., Russell,V.J.,
            Ramsay,K., Kobelke,S.J., Li,X., Hatchell,E.C., Payne,C.,
            Giles,K.M., Messineo,A., Gatignol,A., Lanz,R.B., O'Malley,B.W. and
            Leedman,P.J.
  TITLE     RNA-induced silencing complex (RISC) Proteins PACT, TRBP, and Dicer
            are SRA binding nuclear receptor coregulators
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 110 (16), 6536-6541 (2013)
   PUBMED   23550157
  REMARK    GeneRIF: RISC proteins PACT, TRBP, and Dicer, together with PKR,
            are steroid receptor RNA activator-binding nuclear receptor
            coregulators that are recruited to the promoters of
            hormone-regulated genes and regulate the expression of downstream
            target genes.
REFERENCE   2  (bases 1 to 1906)
  AUTHORS   Mero IL, Gustavsen MW, Saether HS, Flam ST, Berg-Hansen P,
            Sondergaard HB, Jensen PE, Berge T, Bjolgerud A, Muggerud A,
            Aarseth JH, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson
            L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK and Harbo
            HF.
  CONSRTM   International Multiple Sclerosis Genetics Consortium
  TITLE     Oligoclonal band status in Scandinavian multiple sclerosis patients
            is associated with specific genetic risk alleles
  JOURNAL   PLoS ONE 8 (3), E58352 (2013)
   PUBMED   23472185
REFERENCE   3  (bases 1 to 1906)
  AUTHORS   Zhang,Y.N., Cao,P.P., Zhang,X.H., Lu,X. and Liu,Z.
  TITLE     Expression of microRNA machinery proteins in different types of
            chronic rhinosinusitis
  JOURNAL   Laryngoscope 122 (12), 2621-2627 (2012)
   PUBMED   22961479
  REMARK    GeneRIF: PACT may be associated with the plasma cell function and
            eosinophilic inflammation in CRSwNP.
REFERENCE   4  (bases 1 to 1906)
  AUTHORS   Sand,M., Skrygan,M., Georgas,D., Arenz,C., Gambichler,T., Sand,D.,
            Altmeyer,P. and Bechara,F.G.
  TITLE     Expression levels of the microRNA maturing microprocessor complex
            component DGCR8 and the RNA-induced silencing complex (RISC)
            components argonaute-1, argonaute-2, PACT, TARBP1, and TARBP2 in
            epithelial skin cancer
  JOURNAL   Mol. Carcinog. 51 (11), 916-922 (2012)
   PUBMED   22025453
  REMARK    GeneRIF: DGCR8, AGO1, AGO2, PACT, and TARBP1 expression levels were
            significantly higher in the epithelial skin cancer groups than the
            healthy controls (P > 0.05).
REFERENCE   5  (bases 1 to 1906)
  AUTHORS   Singh,M. and Patel,R.C.
  TITLE     Increased interaction between PACT molecules in response to stress
            signals is required for PKR activation
  JOURNAL   J. Cell. Biochem. 113 (8), 2754-2764 (2012)
   PUBMED   22473766
  REMARK    GeneRIF: Data demonstrate that PACT-PACT interaction is essential
            for efficient PKR activation.
REFERENCE   6  (bases 1 to 1906)
  AUTHORS   Horng,T., Barton,G.M. and Medzhitov,R.
  TITLE     TIRAP: an adapter molecule in the Toll signaling pathway
  JOURNAL   Nat. Immunol. 2 (9), 835-841 (2001)
   PUBMED   11526399
REFERENCE   7  (bases 1 to 1906)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep. 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (bases 1 to 1906)
  AUTHORS   Ito,T., Yang,M. and May,W.S.
  TITLE     RAX, a cellular activator for double-stranded RNA-dependent protein
            kinase during stress signaling
  JOURNAL   J. Biol. Chem. 274 (22), 15427-15432 (1999)
   PUBMED   10336432
REFERENCE   9  (bases 1 to 1906)
  AUTHORS   Patel,R.C. and Sen,G.C.
  TITLE     PACT, a protein activator of the interferon-induced protein kinase,
            PKR
  JOURNAL   EMBO J. 17 (15), 4379-4390 (1998)
   PUBMED   9687506
REFERENCE   10 (bases 1 to 1906)
  AUTHORS   Simons,A., Melamed-Bessudo,C., Wolkowicz,R., Sperling,J.,
            Sperling,R., Eisenbach,L. and Rotter,V.
  TITLE     PACT: cloning and characterization of a cellular p53 binding
            protein that interacts with Rb
  JOURNAL   Oncogene 14 (2), 145-155 (1997)
   PUBMED   9010216
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL833867.1 and AC009948.3.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833867.1, BI333091.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1898              AL833867.1         1-1898
            1899-1906           AC009948.3         38004-38011         c
FEATURES             Location/Qualifiers
     source          1..1906
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     gene            1..1906
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="protein kinase, interferon-inducible double
                     stranded RNA dependent activator"
                     /db_xref="GeneID:8575"
                     /db_xref="HGNC:9438"
                     /db_xref="MIM:603424"
     exon            1..516
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    273..275
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="upstream in-frame stop codon"
     CDS             315..1223
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein activator of the interferon-induced protein
                     kinase; interferon-inducible double stranded RNA-dependent
                     protein kinase activator A; protein kinase,
                     interferon-inducible double stranded RNA-dependent
                     activator; PKR-associated protein X; PKR-associating
                     protein X"
                     /codon_start=1
                     /product="interferon-inducible double stranded
                     RNA-dependent protein kinase activator A isoform 2"
                     /protein_id="NP_001132989.1"
                     /db_xref="GI:213417911"
                     /db_xref="CCDS:CCDS46460.1"
                     /db_xref="GeneID:8575"
                     /db_xref="HGNC:9438"
                     /db_xref="MIM:603424"
                     /translation="
MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK
"
     misc_feature    381..578
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="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; Region:
                     DSRM; cd00048"
                     /db_xref="CDD:28930"
     misc_feature    order(381..383,399..404,525..536,543..545)
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="dsRNA binding site [nucleotide binding]; other
                     site"
                     /db_xref="CDD:28930"
     misc_feature    657..857
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="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; Region:
                     DSRM; cd00048"
                     /db_xref="CDD:28930"
     misc_feature    order(657..659,675..680,804..815,822..824)
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="dsRNA binding site [nucleotide binding]; other
                     site"
                     /db_xref="CDD:28930"
     misc_feature    999..1199
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="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; Region:
                     DSRM; cd00048"
                     /db_xref="CDD:28930"
     misc_feature    order(999..1001,1017..1022,1146..1157,1164..1166)
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /note="dsRNA binding site [nucleotide binding]; other
                     site"
                     /db_xref="CDD:28930"
     exon            517..598
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     exon            599..677
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     exon            678..795
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     exon            796..890
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     exon            891..1065
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     variation       958
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:77419724"
     exon            1066..1906
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /inference="alignment:Splign:1.39.8"
     STS             1094..1176
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /standard_name="D2S1579E"
                     /db_xref="UniSTS:150663"
     variation       1226
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3997876"
     variation       1381
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3997877"
     variation       1421
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3997878"
     variation       1536
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3997879"
     STS             1667..1771
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /standard_name="A005Y08"
                     /db_xref="UniSTS:56816"
     STS             1667..1771
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /standard_name="G20590"
                     /db_xref="UniSTS:56815"
     STS             1668..1787
                     /gene="PRKRA"
                     /gene_synonym="DYT16; HSD14; PACT; RAX"
                     /standard_name="RH47285"
                     /db_xref="UniSTS:86244"
ORIGIN      
gcggggcgggcggaggtgacgctcggtcggcgcgcccgggaagggatcgtcaggttttccctgagaggctgcggcgctgctgccagccctgttctgttgagaatctctcctacccgcattcaagtgctctctctaaagacctcgctcaccccgcctgctcctgcggagtgactgccgcagcggggccggaagacaggtgcgccccagcctcgccagctctggccctggcctccggggaactcggcgcctccctcgtcaccgtcggtggcggttaaaactggcctctacgcttctgcttcaatctccaatttggcatgcaaagcacacctttttgtggtttttgcagtttggggaagatgataacagctaagccagggaaaacaccgattcaggtattacacgaatacggcatgaagaccaagaacatcccagtttatgaatgtgaaagatctgatgtgcaaatacacgtgcccactttcaccttcagagtaaccgttggtgacataacctgcacaggtgaaggtacaagtaagaagctggcgaaacatagagctgcagaggctgccataaacattttgaaagccaatgcaagtatttgctttgcagttcctgaccccttaatgcctgacccttccaagcaaccaaagaaccagcttaatcctattggttcattacaggaattggctattcatcatggctggagacttcctgaatataccctttcccaggagggaggacctgctcataagagagaatatactacaatttgcaggctagagtcatttatggaaactggaaagggggcatcaaaaaagcaagccaaaaggaatgctgctgagaaatttcttgccaaatttagtaatatttctccagagaaccacatttctttaacaaatgtagtaggacattctttaggatgtacttggcattccttgaggaattctcctggtgaaaagatcaacttactgaaaagaagcctccttagtattccaaatacagattacatccagctgcttagtgaaattgccaaggaacaaggttttaatataacatatttggatatagatgaactgagcgccaatggacaatatcaatgtcttgctgaactgtccaccagccccatcacagtctgtcatggctccggtatctcctgtggcaatgcacaaagtgatgcagctcacaatgctttgcagtatttaaagataatagcagaaagaaagtaaatctggagcaacttaaaaaatctttcagtagcacataaaaagttcccctctggccccttcccaagtaaaacttttaccgtagtgtttatgtcttgtttctaaatctcttcatagattccatcaacactccagatttaattatctcctcatagttgttattaagctctttttaatggcttcaactttgtatcagtatactgtatttataaactttgtaccacaagagagagtgtagcacccattttacagtgccatgcacatcagagaaagaaactgcatgtttgttgttgatgatgaaataaaaatgctagcgacagtctttcttactggtgcttaagctcttctttgcacaaagctttataaagggaattcaaaggaagccctttagaattagagtcttgagggacagcactaacaggcctttattaagtatgattgattgttaaatttcagggaacatgattggtctgctgtgtatttgaattcatgtaacaaagaactgttacgatgggattctgctcattttattaaaaagctactgacttgactgtcatcctgttcttgttagccattgtgaataagattttaatgttgataattctgttatttacatatctctaatttactttgaaattcaaaggtgaaaataaaaaatgatggcctaagtaaaatttacaaacata
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:8575 -> Molecular function: GO:0003723 [RNA binding] evidence: IEA
            GeneID:8575 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:8575 -> Molecular function: GO:0008047 [enzyme activator activity] evidence: TAS
            GeneID:8575 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IPI
            GeneID:8575 -> Biological process: GO:0006468 [protein phosphorylation] evidence: IEA
            GeneID:8575 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
            GeneID:8575 -> Biological process: GO:0006950 [response to stress] evidence: IEA
            GeneID:8575 -> Biological process: GO:0006955 [immune response] evidence: TAS
            GeneID:8575 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: TAS
            GeneID:8575 -> Biological process: GO:0009615 [response to virus] evidence: TAS
            GeneID:8575 -> Biological process: GO:0010467 [gene expression] evidence: TAS
            GeneID:8575 -> Biological process: GO:0030422 [production of siRNA involved in RNA interference] evidence: IDA
            GeneID:8575 -> Biological process: GO:0042473 [outer ear morphogenesis] evidence: IEA
            GeneID:8575 -> Biological process: GO:0042474 [middle ear morphogenesis] evidence: IEA
            GeneID:8575 -> Biological process: GO:0043085 [positive regulation of catalytic activity] evidence: TAS
            GeneID:8575 -> Biological process: GO:0048705 [skeletal system morphogenesis] evidence: IEA
            GeneID:8575 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:8575 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:8575 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IEA

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