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2024-03-30 00:59:25, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002701               1411 bp    mRNA    linear   PRI 24-JUN-2013
DEFINITION  Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1,
            mRNA.
ACCESSION   NM_002701
VERSION     NM_002701.4  GI:116235483
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 1411)
  AUTHORS   Wen,K., Fu,Z., Wu,X., Feng,J., Chen,W. and Qian,J.
  TITLE     Oct-4 is required for an antiapoptotic behavior of chemoresistant
            colorectal cancer cells enriched for cancer stem cells: effects
            associated with STAT3/Survivin
  JOURNAL   Cancer Lett. 333 (1), 56-65 (2013)
   PUBMED   23340171
  REMARK    GeneRIF: Oct-4 is required for an antiapoptotic behavior of
            chemoresistant colorectal cancer cells enriched for cancer stem
            cells. effects associated with STAT3/Survivin.
REFERENCE   2  (bases 1 to 1411)
  AUTHORS   Alexander,R.E., Cheng,L., Grignon,D.J. and Idrees,M.
  TITLE     Cytoplasmic staining of OCT4 is a highly sensitive marker of
            adrenal medullary-derived tissue
  JOURNAL   Am. J. Surg. Pathol. 37 (5), 727-733 (2013)
   PUBMED   23588367
  REMARK    GeneRIF: The goal of this study is to analyze the immunoreactivity
            of adrenal cortical carcinoma and pheochromocytoma to OCT4
REFERENCE   3  (bases 1 to 1411)
  AUTHORS   Wang,Y., Xu,Z., Jiang,J., Xu,C., Kang,J., Xiao,L., Wu,M., Xiong,J.,
            Guo,X. and Liu,H.
  TITLE     Endogenous miRNA sponge lincRNA-RoR regulates Oct4, Nanog, and Sox2
            in human embryonic stem cell self-renewal
  JOURNAL   Dev. Cell 25 (1), 69-80 (2013)
   PUBMED   23541921
  REMARK    GeneRIF: Linc-RoR (long intergenic non-protein coding RNA regulator
            of reprogramming) regulates endogenous Oct4, Nanog, and Sox2
            expression in self-renewing and differentiating human embryonic
            stem cells.
REFERENCE   4  (bases 1 to 1411)
  AUTHORS   Kim,S., Lim,B. and Kim,J.
  TITLE     EWS-Oct-4B, an alternative EWS-Oct-4 fusion gene, is a potent
            oncogene linked to human epithelial tumours
  JOURNAL   Br. J. Cancer 102 (2), 436-446 (2010)
   PUBMED   20051954
  REMARK    GeneRIF: results suggest oncogenic effect of the t(6;22)
            translocation is due to EWS-Oct-4B chimeric protein & that
            alternative fusion of EWS amino terminal domain to the Oct-4
            DNA-binding domain produces another transforming chimeric product
            in epithelial tumours
REFERENCE   5  (bases 1 to 1411)
  AUTHORS   Wang,X., Zhao,Y., Xiao,Z., Chen,B., Wei,Z., Wang,B., Zhang,J.,
            Han,J., Gao,Y., Li,L., Zhao,H., Zhao,W., Lin,H. and Dai,J.
  TITLE     Alternative translation of OCT4 by an internal ribosome entry site
            and its novel function in stress response
  JOURNAL   Stem Cells 27 (6), 1265-1275 (2009)
   PUBMED   19489092
  REMARK    GeneRIF: OCT4 gene, by the regulation of alternative splicing and
            alternative translation initiation, may carry out more crucial
            roles in many biological events.
            GeneRIF: Shows that isoform OCT4B-190 initiates at a non-AUG (CUG)
            translation initiation codon.
REFERENCE   6  (bases 1 to 1411)
  AUTHORS   Lee,J., Kim,H.K., Rho,J.Y., Han,Y.M. and Kim,J.
  TITLE     The human OCT-4 isoforms differ in their ability to confer
            self-renewal
  JOURNAL   J. Biol. Chem. 281 (44), 33554-33565 (2006)
   PUBMED   16951404
  REMARK    GeneRIF: DNA binding, transactivation, and abilities to confer
            self-renewal of the human OCT-4 isoforms differ
REFERENCE   7  (bases 1 to 1411)
  AUTHORS   Yamaguchi,S., Yamazaki,Y., Ishikawa,Y., Kawaguchi,N., Mukai,H. and
            Nakamura,T.
  TITLE     EWSR1 is fused to POU5F1 in a bone tumor with translocation
            t(6;22)(p21;q12)
  JOURNAL   Genes Chromosomes Cancer 43 (2), 217-222 (2005)
   PUBMED   15729702
  REMARK    Erratum:[Genes Chromosomes Cancer. 2008 Mar;47(3):266]
REFERENCE   8  (bases 1 to 1411)
  AUTHORS   Crouau-Roy,B., Amadou,C., Bouissou,C., Clayton,J., Vernet,C.,
            Ribouchon,M.T. and Pontarotti,P.
  TITLE     Localization of the OTF3 gene within the human MHC class I region
            by physical and meiotic mapping
  JOURNAL   Genomics 21 (1), 241-243 (1994)
   PUBMED   8088794
REFERENCE   9  (bases 1 to 1411)
  AUTHORS   Takeda,J., Seino,S. and Bell,G.I.
  TITLE     Human Oct3 gene family: cDNA sequences, alternative splicing, gene
            organization, chromosomal location, and expression at low levels in
            adult tissues
  JOURNAL   Nucleic Acids Res. 20 (17), 4613-4620 (1992)
   PUBMED   1408763
REFERENCE   10 (bases 1 to 1411)
  AUTHORS   Schoorlemmer,J. and Kruijer,W.
  TITLE     Octamer-dependent regulation of the kFGF gene in embryonal
            carcinoma and embryonic stem cells
  JOURNAL   Mech. Dev. 36 (1-2), 75-86 (1991)
   PUBMED   1723621
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC117435.1, DQ486517.1 and
            AI811039.1.
            On Oct 17, 2006 this sequence version replaced gi:54112126.
            
            Summary: This gene encodes a transcription factor containing a POU
            homeodomain. This transcription factor plays a role in embryonic
            development, especially during early embryogenesis, and it is
            necessary for embryonic stem cell pluripotency. A translocation of
            this gene with the Ewing's sarcoma gene, t(6;22)(p21;q12), has been
            linked to tumor formation. Alternative splicing, as well as usage
            of alternative translation initiation codons, results in multiple
            isoforms, one of which initiates at a non-AUG (CUG) start codon.
            Related pseudogenes have been identified on chromosomes 1, 3, 8,
            10, and 12. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform (1,
            also known as OCT4A).
            
            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 :: BC117435.1, Z11898.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025086 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1189              BC117435.1         1-1189
            1190-1387           DQ486517.1         844-1041
            1388-1411           AI811039.1         1-24                c
FEATURES             Location/Qualifiers
     source          1..1411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..1411
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /note="POU class 5 homeobox 1"
                     /db_xref="GeneID:5460"
                     /db_xref="HGNC:9221"
                     /db_xref="HPRD:01252"
                     /db_xref="MIM:164177"
     STS             1..1189
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /db_xref="UniSTS:490233"
     exon            1..459
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /inference="alignment:Splign:1.39.8"
     CDS             55..1137
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /note="isoform 1 is encoded by transcript variant 1; POU
                     domain, class 5, transcription factor 1; octamer-binding
                     transcription factor-3; POU-type homeodomain-containing
                     DNA-binding protein; POU domain transcription factor OCT4;
                     octamer-binding protein 3; octamer-binding protein 4;
                     octamer-binding transcription factor 3"
                     /codon_start=1
                     /product="POU domain, class 5, transcription factor 1
                     isoform 1"
                     /protein_id="NP_002692.2"
                     /db_xref="GI:42560248"
                     /db_xref="CCDS:CCDS34391.1"
                     /db_xref="GeneID:5460"
                     /db_xref="HGNC:9221"
                     /db_xref="HPRD:01252"
                     /db_xref="MIM:164177"
                     /translation="
MAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGPPGGPGIGPGVGPGSEVWGIPPCPPPYEFCGGMAYCGPQVGVGLVPQGGLETSQPEGEAGVGVESNSDGASPEPCTVTPGAVKLEKEKLEQNPEESQDIKALQKELEQFAKLLKQKRITLGYTQADVGLTLGVLFGKVFSQTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENRVRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVRVWFCNRRQKGKRSSSDYAQREDFEAAGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN
"
     misc_feature    385..387
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by MAPK; propagated from
                     UniProtKB/Swiss-Prot (Q01860.1); phosphorylation site"
     misc_feature    466..690
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /note="Found in Pit-Oct-Unc transcription factors; Region:
                     POU; smart00352"
                     /db_xref="CDD:197673"
     misc_feature    745..921
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(745..759,763..765,814..816,832..834,871..873,
                     877..882,889..894,898..906,910..915)
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(751..753,760..762,880..882,889..894,901..903)
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    757..759
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine; propagated from
                     UniProtKB/Swiss-Prot (Q01860.1); phosphorylation site"
     misc_feature    760..762
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q01860.1); phosphorylation site"
     misc_feature    919..921
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q01860.1); phosphorylation site"
     misc_feature    922..924
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q01860.1); phosphorylation site"
     misc_feature    1117..1119
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q01860.1); phosphorylation site"
     variation       75
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2077010"
     variation       81
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1265160"
     variation       345
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1062630"
     exon            460..580
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /inference="alignment:Splign:1.39.8"
     exon            581..711
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /inference="alignment:Splign:1.39.8"
     exon            712..870
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /inference="alignment:Splign:1.39.8"
     variation       730
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1150767"
     exon            871..1401
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /inference="alignment:Splign:1.39.8"
     variation       1101
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1061118"
     variation       1106
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1061120"
     STS             1139..1389
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /standard_name="SHGC-12693"
                     /db_xref="UniSTS:38468"
     STS             1143..1258
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /standard_name="POU5F1"
                     /db_xref="UniSTS:479943"
     variation       1193
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1061126"
     polyA_signal    1364..1369
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
     variation       1375
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:13409"
     polyA_site      1387
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
     polyA_site      1401
                     /gene="POU5F1"
                     /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3;
                     OTF4"
ORIGIN      
ccttcgcaagccctcatttcaccaggcccccggcttggggcgccttccttccccatggcgggacacctggcttcggatttcgccttctcgccccctccaggtggtggaggtgatgggccaggggggccggagccgggctgggttgatcctcggacctggctaagcttccaaggccctcctggagggccaggaatcgggccgggggttgggccaggctctgaggtgtgggggattcccccatgccccccgccgtatgagttctgtggggggatggcgtactgtgggccccaggttggagtggggctagtgccccaaggcggcttggagacctctcagcctgagggcgaagcaggagtcggggtggagagcaactccgatggggcctccccggagccctgcaccgtcacccctggtgccgtgaagctggagaaggagaagctggagcaaaacccggaggagtcccaggacatcaaagctctgcagaaagaactcgagcaatttgccaagctcctgaagcagaagaggatcaccctgggatatacacaggccgatgtggggctcaccctgggggttctatttgggaaggtattcagccaaacgaccatctgccgctttgaggctctgcagcttagcttcaagaacatgtgtaagctgcggcccttgctgcagaagtgggtggaggaagctgacaacaatgaaaatcttcaggagatatgcaaagcagaaaccctcgtgcaggcccgaaagagaaagcgaaccagtatcgagaaccgagtgagaggcaacctggagaatttgttcctgcagtgcccgaaacccacactgcagcagatcagccacatcgcccagcagcttgggctcgagaaggatgtggtccgagtgtggttctgtaaccggcgccagaagggcaagcgatcaagcagcgactatgcacaacgagaggattttgaggctgctgggtctcctttctcagggggaccagtgtcctttcctctggccccagggccccattttggtaccccaggctatgggagccctcacttcactgcactgtactcctcggtccctttccctgagggggaagcctttccccctgtctccgtcaccactctgggctctcccatgcattcaaactgaggtgcctgcccttctaggaatgggggacagggggaggggaggagctagggaaagaaaacctggagtttgtgccagggtttttgggattaagttcttcattcactaaggaaggaattgggaacacaaagggtgggggcaggggagtttggggcaactggttggagggaaggtgaagttcaatgatgctcttgattttaatcccacatcatgtatcacttttttcttaaataaagaagcctgggacacagtagatagacacacttaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5460 -> Molecular function: GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: ISS
            GeneID:5460 -> Molecular function: GO:0003677 [DNA binding] evidence: IDA
            GeneID:5460 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
            GeneID:5460 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5460 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IPI
            GeneID:5460 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI
            GeneID:5460 -> Molecular function: GO:0035198 [miRNA binding] evidence: IDA
            GeneID:5460 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA
            GeneID:5460 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
            GeneID:5460 -> Biological process: GO:0001714 [endodermal cell fate specification] evidence: IDA
            GeneID:5460 -> Biological process: GO:0001824 [blastocyst development] evidence: ISS
            GeneID:5460 -> Biological process: GO:0003130 [BMP signaling pathway involved in heart induction] evidence: IMP
            GeneID:5460 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:5460 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:5460 -> Biological process: GO:0009611 [response to wounding] evidence: IEP
            GeneID:5460 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
            GeneID:5460 -> Biological process: GO:0009786 [regulation of asymmetric cell division] evidence: ISS
            GeneID:5460 -> Biological process: GO:0010468 [regulation of gene expression] evidence: IMP
            GeneID:5460 -> Biological process: GO:0035019 [somatic stem cell maintenance] evidence: IDA
            GeneID:5460 -> Biological process: GO:0035019 [somatic stem cell maintenance] evidence: IMP
            GeneID:5460 -> Biological process: GO:0035413 [positive regulation of catenin import into nucleus] evidence: IDA
            GeneID:5460 -> Biological process: GO:0042789 [mRNA transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:5460 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:5460 -> Biological process: GO:0060391 [positive regulation of SMAD protein import into nucleus] evidence: IDA
            GeneID:5460 -> Biological process: GO:0060795 [cell fate commitment involved in formation of primary germ layer] evidence: IMP
            GeneID:5460 -> Biological process: GO:0060913 [cardiac cell fate determination] evidence: IDA
            GeneID:5460 -> Biological process: GO:0060965 [negative regulation of gene silencing by miRNA] evidence: IMP
            GeneID:5460 -> Biological process: GO:0090081 [regulation of heart induction by regulation of canonical Wnt receptor signaling pathway] evidence: IMP
            GeneID:5460 -> Biological process: GO:0090308 [regulation of methylation-dependent chromatin silencing] evidence: IDA
            GeneID:5460 -> Cellular component: GO:0005634 [nucleus] evidence: IC
            GeneID:5460 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:5460 -> Cellular component: GO:0005654 [nucleoplasm] evidence: IDA
            GeneID:5460 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IDA
            GeneID:5460 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:5460 -> Cellular component: GO:0005829 [cytosol] evidence: IDA

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