Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.
| RefSeq Version | NM_002701.4, 116235483 |
| Length | 1411 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA. |
| Product | POU domain, class 5, transcription factor 1 isoform 1 |
| Comment | 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]. Transcript Variant: This variant (1) encodes the longer isoform (1, also known as OCT4A). |
| RefSeq | NP_002692.2 |
| CDS | 55..1137 | Exon (1) | 1..459 | Exon (2) | 460..580 | Exon (3) | 581..711 | Exon (4) | 712..870 | Exon (5) | 871..1401 |
| Translation | MAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGPPGGPGIGPGVGPGSEVWGI
PPCPPPYEFCGGMAYCGPQVGVGLVPQGGLETSQPEGEAGVGVESNSDGASPEPCTVTPG
AVKLEKEKLEQNPEESQDIKALQKELEQFAKLLKQKRITLGYTQADVGLTLGVLFGKVFS
QTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENR
VRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVRVWFCNRRQKGKRSSSDYAQREDFEA
AGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN
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| Position | Chain | Variation | Link |
| 75 | + | a, g | dbSNP:2077010 |
| 81 | + | c, t | dbSNP:1265160 |
| complement(117) | - | t, c | dbSNP:117585298 |
| complement(142) | - | t, c | dbSNP:41257954 |
| complement(142) | - | t, c | dbSNP:61743728 |
| complement(248) | - | g, a | dbSNP:77172244 |
| 288 | + | c, t | dbSNP:1061396 |
| 345 | + | c, t | dbSNP:1062630 |
| 581 | + | a, g | dbSNP:75641460 |
| complement(654) | - | c, a | dbSNP:115234511 |
| 694 | + | a, g | dbSNP:71520669 |
| 730 | + | c, t | dbSNP:1150767 |
| 738 | + | a, g | dbSNP:62513968 |
| complement(742) | - | g, c | dbSNP:77201531 |
| 766 | + | c, g | dbSNP:60346131 |
| complement(819) | - | g, c | dbSNP:61733204 |
| complement(819) | - | g, c | dbSNP:114600084 |
| complement(819) | - | g, c | dbSNP:17851818 |
| 924 | + | c, t | dbSNP:28409416 |
| 995 | + | c, t | dbSNP:16897482 |
| 995 | + | c, t | dbSNP:1062632 |
| 1085 | + | c, t | dbSNP:1061116 |
| 1095 | + | a, t | dbSNP:1061117 |
| 1101 | + | c, t | dbSNP:1061118 |
| complement(1101) | - | g, a | dbSNP:114284229 |
| complement(1101) | - | g, a | dbSNP:17197178 |
| 1106 | + | c, t | dbSNP:1061120 |
| 1193 | + | a, g | dbSNP:1061126 |
| complement(1212) | - | t, c | dbSNP:3734864 |
| complement(1212) | - | t, c | dbSNP:117880819 |
| complement(1262..1263) | - | , tt | dbSNP:60004964 |
| complement(1375) | - | g, a | dbSNP:114397573 |
| 1375 | + | c, t | dbSNP:13409 |
| Gene Symbol | POU5F1 |
| Gene Synonym | MGC22487; Oct-3; Oct-4; OCT3; OCT4; OTF-3; OTF3; OTF4 |
| Chromosome | 6 |
| Locus Map | 6p21.31 |
| All Transcripts | NM_002701 , NM_203289 , NM_001173531 |
| Title | A regulatory circuitry comprised of miR-302 and the transcription factors OCT4 and NR2F2 regulates human embryonic stem cell differentiation . |
| Author | Rosa,A. and Brivanlou,A.H. |
| Journal | EMBO J. 30 (2), 237-248 (2011) |
| Title | Coexpression of Oct4 and Nanog enhances malignancy in lung adenocarcinoma by inducing cancer stem cell-like properties and epithelial-mesenchymal transdifferentiation . |
| Author | Chiou,S.H., Wang,M.L., Chou,Y.T., Chen,C.J., Hong,C.F., Hsieh,W.J., Chang,H.T., Chen,Y.S., Lin,T.W., Hsu,H.S. and Wu,C.W. |
| Journal | Cancer Res. 70 (24), 10433-10444 (2010) |
| Title | Ascorbic acid induces in vitro proliferation of human subcutaneous adipose tissue derived mesenchymal stem cells with upregulation of embryonic stem cell pluripotency markers Oct4 and SOX 2 . |
| Author | Potdar,P.D. and D'Souza,S.B. |
| Journal | Hum. Cell 23 (4), 152-155 (2010) |
| Title | EWS-Oct-4B, an alternative EWS-Oct-4 fusion gene, is a potent oncogene linked to human epithelial tumours . |
| Author | Kim,S., Lim,B. and Kim,J. |
| Journal | Br. J. Cancer 102 (2), 436-446 (2010) |
| Title | Alternative translation of OCT4 by an internal ribosome entry site and its novel function in stress response . |
| Author | 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. |
| Journal | Stem Cells 27 (6), 1265-1275 (2009) |
| Title | The human OCT-4 isoforms differ in their ability to confer self-renewal . |
| Author | Lee,J., Kim,H.K., Rho,J.Y., Han,Y.M. and Kim,J. |
| Journal | J. Biol. Chem. 281 (44), 33554-33565 (2006) |
| Title | EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12) . |
| Author | Yamaguchi,S., Yamazaki,Y., Ishikawa,Y., Kawaguchi,N., Mukai,H. and Nakamura,T. |
| Journal | Genes Chromosomes Cancer 43 (2), 217-222 (2005) |
| Title | Localization of the OTF3 gene within the human MHC class I region by physical and meiotic mapping . |
| Author | Crouau-Roy,B., Amadou,C., Bouissou,C., Clayton,J., Vernet,C., Ribouchon,M.T. and Pontarotti,P. |
| Journal | Genomics 21 (1), 241-243 (1994) |
| Title | Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues . |
| Author | Takeda,J., Seino,S. and Bell,G.I. |
| Journal | Nucleic Acids Res. 20 (17), 4613-4620 (1992) |
| Title | Octamer-dependent regulation of the kFGF gene in embryonal carcinoma and embryonic stem cells . |
| Author | Schoorlemmer,J. and Kruijer,W. |
| Journal | Mech. Dev. 36 (1-2), 75-86 (1991) |
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