2024-04-25 23:34:12, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001285987 2075 bp mRNA linear PRI 25-DEC-2023 DEFINITION Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 5, mRNA. ACCESSION NM_001285987 VERSION NM_001285987.1 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 2075) AUTHORS Hong L, Hong S and Zhang X. TITLE Expression and Functional Analysis of core stemness factors OSKM (OCT4, SOX2, KLF4, and MYC) in Pan-cancer JOURNAL Medicine (Baltimore) 102 (48), e36433 (2023) PUBMED 38050242 REMARK GeneRIF: Expression and Functional Analysis of core stemness factors OSKM (OCT4, SOX2, KLF4, and MYC) in Pan-cancer. REFERENCE 2 (bases 1 to 2075) AUTHORS Panayiotou T, Eftychiou M, Patera E, Promponas VJ and Strati K. TITLE A paradigm for post-embryonic Oct4 re-expression: E7-induced hydroxymethylation regulates Oct4 expression in cervical cancer JOURNAL J Med Virol 95 (12), e29264 (2023) PUBMED 38054553 REMARK GeneRIF: A paradigm for post-embryonic Oct4 re-expression: E7-induced hydroxymethylation regulates Oct4 expression in cervical cancer. REFERENCE 3 (bases 1 to 2075) AUTHORS Wang X and Dai J. TITLE Concise review: isoforms of OCT4 contribute to the confusing diversity in stem cell biology JOURNAL Stem Cells 28 (5), 885-893 (2010) PUBMED 20333750 REMARK GeneRIF: This review article underscores the importance of identifying and discriminating the expression and functions of OCT4 isoforms in stem cell research. Review article REFERENCE 4 (bases 1 to 2075) AUTHORS Zhang W, Wang X, Xiao Z, Liu W, Chen B and Dai J. TITLE Mapping of the minimal internal ribosome entry site element in the human embryonic stem cell gene OCT4B mRNA JOURNAL Biochem Biophys Res Commun 394 (3), 750-754 (2010) PUBMED 20230781 REMARK GeneRIF: a 30-nt sequence (nt 201-231), which is sufficient to promote internal initiation of translation of OCT4B mRNA in embryonic stem cells was mapped. REFERENCE 5 (bases 1 to 2075) 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 2075) AUTHORS Atlasi Y, Mowla SJ, Ziaee SA, Gokhale PJ and Andrews PW. TITLE OCT4 spliced variants are differentially expressed in human pluripotent and nonpluripotent cells JOURNAL Stem Cells 26 (12), 3068-3074 (2008) PUBMED 18787205 REMARK GeneRIF: OCT4 spliced variants are differentially expressed in human pluripotent and nonpluripotent cells REFERENCE 7 (bases 1 to 2075) AUTHORS Lee J, Kim HK, Rho JY, Han YM 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 8 (bases 1 to 2075) AUTHORS Wey E, Lyons GE and Schafer BW. TITLE A human POU domain gene, mPOU, is expressed in developing brain and specific adult tissues JOURNAL Eur J Biochem 220 (3), 753-762 (1994) PUBMED 7908264 REFERENCE 9 (bases 1 to 2075) AUTHORS Takeda J, Seino S and Bell GI. 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 2075) 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 DQ486514.1, DQ486515.1, Z11899.1 and AI811039.1. Summary: This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]. Transcript Variant: This variant (5, also known as OCT4B) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate AUG start codon, compared to variant 1. The resulting isoform (3, also known as OCT4B-265) is shorter and has a distinct N-terminus, compared to isoform 1. This variant represents an allele of variant 2 that contains an AUG start codon that is polymorphic in human populations (see rs3130932). This variant may encode additional isoforms through the use of alternative downstream AUG and non-AUG start codons, as described 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 :: KY781166.1, KX151172.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-332 DQ486514.1 1-332 333-1004 DQ486515.1 1-672 1005-1681 Z11899.1 103-779 1682-2051 DQ486515.1 1350-1719 2052-2075 AI811039.1 1-24 c FEATURES Location/Qualifiers source 1..2075 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.33" gene 1..2075 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="POU class 5 homeobox 1" /db_xref="GeneID:5460" /db_xref="HGNC:HGNC:9221" /db_xref="MIM:164177" exon 1..1244 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:2.1.0" misc_feature 974..976 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="upstream in-frame stop codon" CDS 1004..1801 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="isoform 3 is encoded by transcript variant 5; POU-type homeodomain-containing DNA-binding protein; POU domain transcription factor OCT4; POU domain, class 5, transcription factor 1; 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 3" /protein_id="NP_001272916.1" /db_xref="GeneID:5460" /db_xref="HGNC:HGNC:9221" /db_xref="MIM:164177" /translation="
MHFYRLFLGATRRFLNPEWKGEIDNWCVYVLTSLLPFKIQSQDIKALQKELEQFAKLLKQKRITLGYTQADVGLTLGVLFGKVFSQTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENRVRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVRVWFCNRRQKGKRSSSDYAQREDFEAAGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN"
misc_feature 1130..1354 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="Found in Pit-Oct-Unc transcription factors; Region: POU; smart00352" /db_xref="CDD:197673" misc_feature 1229..1231 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="OCT4B-190; non-AUG start codon; Region: Alternative start codon" misc_feature 1307..1309 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="OCT4B-164; Region: Alternative start codon" misc_feature order(1409..1423,1427..1429,1478..1480,1496..1498, 1535..1537,1541..1546,1553..1558,1562..1570,1574..1579) /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" misc_feature 1415..1576 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="Homeobox domain; Region: Homeobox; pfam00046" /db_xref="CDD:425441" misc_feature order(1415..1417,1424..1426,1544..1546,1553..1558, 1565..1567) /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:238039" exon 1245..1375 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:2.1.0" exon 1376..1534 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:2.1.0" exon 1535..2065 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /inference="alignment:Splign:2.1.0" regulatory 2028..2033 /regulatory_class="polyA_signal_sequence" /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="hexamer: AATAAA" polyA_site 2065 /gene="POU5F1" /gene_synonym="Oct-3; Oct-4; OCT3; Oct3/4; OCT4; OTF-3; OTF3; OTF4" /note="major polyA site" ORIGIN
ggaaaaaaggaaagtgcacttggaagagatccaagtgggcaacttgaagaacaagtgccaaatagcacttctgtcatgctggatgtcagggctctttgtccactttgtatagccgctggcttatagaaggtgctcgataaatctcttgaatttaaaaatcaattaggatgcctctatagtgaaaaagatacagtaaagatgagggataatcaatttaaaaaatgagtaagtacacacaaagcactttatccattcttatgacacctgttacttttttgctgtgtttgtgtgtatgcatgccatgttatagtttgtgggaccctcaaagcaagctggggagagtatatactgaatttagcttctgagacatgatgctcttcctttttaattaacccagaacttagcagcttatctatttctctaatctcaaaacatccttaaactgggggtgatacttgagtgagagaattttgcaggtattaaatgaactatcttcttttttttttttctttgagacagagtcttgctctgtcacccaggctggagtgcagtggcgtgatctcagctcactgcaacctccgcctcccgggttcaagtgattctcctgcctcagcctcctgagtagctgggattacaggtgcgtgccaccgtgcccagctaatttttgtgtttttagtagagacggggtttcaccatgttggccatgctggtcttgaactcctgacctcgtgatctgcccacctcggcctcccaaagtgctggaattataggcgtgagccaccgcgcccagcaaagaacttctaaccttcataacctgacaggtgttctcgaggccagggtctctctttctgtcctttcacgatgctctgcatcccttggatgtgccagtttctgggggaagagtagtcctttgttacatgcatgagtcagtgaacagggaatgggtgaatgacatttgtgggtaggttatttctagaagttaggtgggcagcttggaaggcagatgcacttctacagactattccttggggccacacgtaggttcttgaatcccgaatggaaaggggagattgataactggtgtgtttatgttcttacaagtcttctgccttttaaaatccagtcccaggacatcaaagctctgcagaaagaactcgagcaatttgccaagctcctgaagcagaagaggatcaccctgggatatacacaggccgatgtggggctcaccctgggggttctatttgggaaggtattcagccaaacgaccatctgccgctttgaggctctgcagcttagcttcaagaacatgtgtaagctgcggcccttgctgcagaagtgggtggaggaagctgacaacaatgaaaatcttcaggagatatgcaaagcagaaaccctcgtgcaggcccgaaagagaaagcgaaccagtatcgagaaccgagtgagaggcaacctggagaatttgttcctgcagtgcccgaaacccacactgcagcagatcagccacatcgcccagcagcttgggctcgagaaggatgtggtccgagtgtggttctgtaaccggcgccagaagggcaagcgatcaagcagcgactatgcacaacgagaggattttgaggctgctgggtctcctttctcagggggaccagtgtcctttcctctggccccagggccccattttggtaccccaggctatgggagccctcacttcactgcactgtactcctcggtccctttccctgagggggaagcctttccccctgtctccgtcaccactctgggctctcccatgcattcaaactgaggtgcctgcccttctaggaatgggggacagggggaggggaggagctagggaaagaaaacctggagtttgtgccagggtttttgggattaagttcttcattcactaaggaaggaattgggaacacaaagggtgggggcaggggagtttggggcaactggttggagggaaggtgaagttcaatgatgctcttgattttaatcccacatcatgtatcacttttttcttaaataaagaagcctgggacacagtagatagacacacttaaaaaaaaaaa
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Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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