2025-05-09 20:23:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_203289 1743 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 2, mRNA. ACCESSION NM_203289 VERSION NM_203289.4 GI:291167754 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 1743) 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 1743) 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 1743) 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 1743) 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 1743) 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 1743) 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 1743) 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 1743) 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 1743) 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 1743) 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 DQ486515.1 and AI811039.1. On Mar 17, 2010 this sequence version replaced gi:116235490. 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 (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream non-AUG (CUG) start codon, compared to variant 1. The resulting isoform (2, also known as OCT4B-190) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform. The predominant use of the non-AUG (CUG) start codon is described in PMID:19489092. This variant may also encode additional isoforms through the use of an alternative downstream AUG start codon, as well as an alternative upstream AUG start codon, which is polymorphic (AGG in this RefSeq and in the GRCh37 primary assembly, and AUG in all other assemblies, see dbSNP:3130932), as described in PMID:1408763. CCDS Note: The coding region has been updated to shorten the N-terminus to one that is more supported by available transcript data and publication evidence. The update uses a non-AUG (CUG) start codon, which was shown to be the predominant start codon in studies in PMID:19489092. The transcript also has two other potential start codons, which are used less frequently: an upstream and polymorphic AUG start codon, which can produce a 265 aa isoform, and a downstream AUG start codon, which can produce a 164 aa isoform. The upstream AUG is not present in the GRCh37 primary assembly, where it appears as AGG versus AUG. This is a valid polymorphism (reference SNP 3130932), as described in PMIDs 1408763 and 19489092. This polymorphic start codon has a weak Kozak signal, and therefore in AUG-containing alleles, leaky scanning by ribosomes may occur to allow preferential initiation at the downstream CUG start codon. The isoform derived from the CUG start codon is the only one detected endogenously in studies in PMID:19489092. 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 :: DQ486515.1, BC020712.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## non-AUG initiation codon :: PMID: 19489092 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1719 DQ486515.1 1-1719 1720-1743 AI811039.1 1-24 c FEATURES Location/Qualifiers source 1..1743 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.31" gene 1..1743 /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="MIM:164177" exon 1..912 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:1.39.8" STS 230..367 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /standard_name="D16S325" /db_xref="UniSTS:147089" STS 266..354 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 279..393 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /standard_name="D10S16" /db_xref="UniSTS:155756" variation 441 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="a" /replace="g" /db_xref="dbSNP:3132526" variation 529 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="c" /replace="g" /db_xref="dbSNP:1265163" misc_feature 642..644 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /note="upstream in-frame stop codon" misc_feature 672..674 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /note="polymorphic and alternative AUG translation initiation codon; rs3130932; this is AGG versus AUG in this RefSeq and in the GRCh37 primary assembly; start of isoform OCT4B-265, as described in PMID:19489092" variation 673 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="g" /replace="t" /db_xref="dbSNP:3130932" CDS 897..1469 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /note="; isoform 2 is encoded by transcript variant 2; non-AUG (CUG) translation initiation codon; 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 2" /protein_id="NP_976034.4" /db_xref="GI:291167755" /db_xref="CCDS:CCDS47398.1" /db_xref="GeneID:5460" /db_xref="HGNC:9221" /db_xref="MIM:164177" /translation="
MGVLFGKVFSQTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENRVRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVRVWFCNRRQKGKRSSSDYAQREDFEAAGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN
" misc_feature <897..1022 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /note="Pou domain - N-terminal to homeobox domain; Region: Pou; cl02582" /db_xref="CDD:198730" misc_feature 975..977 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /note="start of isoform OCT4B-164, as described in PMID:19489092; Region: alternative AUG translation initiation codon" misc_feature 1077..1253 /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(1077..1091,1095..1097,1146..1148,1164..1166, 1203..1205,1209..1214,1221..1226,1230..1238,1242..1247) /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(1083..1085,1092..1094,1212..1214,1221..1226, 1233..1235) /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" exon 913..1043 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:1.39.8" exon 1044..1202 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:1.39.8" variation 1062 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="c" /replace="t" /db_xref="dbSNP:1150767" exon 1203..1733 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:1.39.8" variation 1433 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="c" /replace="t" /db_xref="dbSNP:1061118" variation 1438 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="c" /replace="t" /db_xref="dbSNP:1061120" STS 1471..1721 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /standard_name="SHGC-12693" /db_xref="UniSTS:38468" STS 1475..1590 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /standard_name="POU5F1" /db_xref="UniSTS:479943" variation 1525 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="a" /replace="g" /db_xref="dbSNP:1061126" polyA_signal 1696..1701 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" variation 1707 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" /replace="c" /replace="t" /db_xref="dbSNP:13409" polyA_site 1719 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" polyA_site 1733 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4" ORIGIN
ctggggagagtatatactgaatttagcttctgagacatgatgctcttcctttttaattaacccagaacttagcagcttatctatttctctaatctcaaaacatccttaaactgggggtgatacttgagtgagagaattttgcaggtattaaatgaactatcttcttttttttttttctttgagacagagtcttgctctgtcacccaggctggagtgcagtggcgtgatctcagctcactgcaacctccgcctcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggattacaggtgcgtgccaccgtgcccagctaatttttgtgtttttagtagagacggggtttcaccatgttggccatgctggtcttgaactcctgacctcgtgatctgcccacctcggcctcccaaagtgctggaattataggcgtgagccaccgcgcccagcaaagaacttctaaccttcataacctgacaggtgttctcgaggccagggtctctctttctgtcctttcacgatgctctgcatcccttggatgtgccagtttctgggggaagagtagtcctttgttacatgcatgagtcagtgaacagggaatgggtgaatgacatttgtgggtaggttatttctagaagttaggtgggcagcttggaaggcagaggcacttctacagactattccttggggccacacgtaggttcttgaatcccgaatggaaaggggagattgataactggtgtgtttatgttcttacaagtcttctgccttttaaaatccagtcccaggacatcaaagctctgcagaaagaactcgagcaatttgccaagctcctgaagcagaagaggatcaccctgggatatacacaggccgatgtggggctcaccctgggggttctatttgggaaggtattcagccaaacgaccatctgccgctttgaggctctgcagcttagcttcaagaacatgtgtaagctgcggcccttgctgcagaagtgggtggaggaagctgacaacaatgaaaatcttcaggagatatgcaaagcagaaaccctcgtgcaggcccgaaagagaaagcgaaccagtatcgagaaccgagtgagaggcaacctggagaatttgttcctgcagtgcccgaaacccacactgcagcagatcagccacatcgcccagcagcttgggctcgagaaggatgtggtccgagtgtggttctgtaaccggcgccagaagggcaagcgatcaagcagcgactatgcacaacgagaggattttgaggctgctgggtctcctttctcagggggaccagtgtcctttcctctggccccagggccccattttggtaccccaggctatgggagccctcacttcactgcactgtactcctcggtccctttccctgagggggaagcctttccccctgtctccgtcaccactctgggctctcccatgcattcaaactgaggtgcctgcccttctaggaatgggggacagggggaggggaggagctagggaaagaaaacctggagtttgtgccagggtttttgggattaagttcttcattcactaaggaaggaattgggaacacaaagggtgggggcaggggagtttggggcaactggttggagggaaggtgaagttcaatgatgctcttgattttaatcccacatcatgtatcacttttttcttaaataaagaagcctgggacacagtagatagacacacttaaaaaaaaaaa
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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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