Human Gene POU5F1 (uc011gwl.2) Description and Page Index
Description: Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA. RefSeq Summary (NM_002701): 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 (Including UTRs) Position: chr6_mann_hap4:2,480,458-2,486,814 Size: 6,357 Total Exon Count: 5 Strand: - Coding Region Position: chr6_mann_hap4:2,480,722-2,486,760 Size: 6,039 Coding Exon Count: 5
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Comments and Description Text from UniProtKB
ID:PO5F1_HUMAN DESCRIPTION: RecName: Full=POU domain, class 5, transcription factor 1; AltName: Full=Octamer-binding protein 3; Short=Oct-3; AltName: Full=Octamer-binding protein 4; Short=Oct-4; AltName: Full=Octamer-binding transcription factor 3; Short=OTF-3; FUNCTION: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency. SUBUNIT: Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PKM. Interacts with WWP2. INTERACTION: P03259:- (xeno); NbExp=2; IntAct=EBI-475687, EBI-6947456; Q8JSK4:E1A (xeno); NbExp=2; IntAct=EBI-475687, EBI-7453955; Q9UJU5:FOXD3; NbExp=2; IntAct=EBI-475687, EBI-475674; P63158:Hmgb1 (xeno); NbExp=3; IntAct=EBI-475687, EBI-6665811; O00308:WWP2; NbExp=4; IntAct=EBI-475687, EBI-743923; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Expressed in a diffuse and slightly punctuate pattern. TISSUE SPECIFICITY: Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues. DEVELOPMENTAL STAGE: Highly expressed in undifferentiated embryonic stem cells and expression decreases gradually after embryoid body (EB) formation. INDUCTION: Transcriptional activity is positively regulated by PKM. DOMAIN: The POU-specific domain mediates interaction with PKM. PTM: Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression (By similarity). PTM: Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation (By similarity). PTM: ERK1/2-mediated phosphorylation at Ser-111 promotes nuclear exclusion and proteasomal degradation. Phosphorylation at Thr-235 and Ser-236 decrease DNA-binding and alters ability to activate transcription. BIOTECHNOLOGY: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes. MISCELLANEOUS: Several pseudogenes of POU5F1 have been described on chromosomes 1, 3, 8, 10 and 12. 2 of them, localized in chromosomes 8 and 10, are transcribed in cancer tissues but not in normal ones and may be involved in the regulation of POU5F1 gene activity in carcinogenesis. SIMILARITY: Belongs to the POU transcription factor family. Class- 5 subfamily. SIMILARITY: Contains 1 homeobox DNA-binding domain. SIMILARITY: Contains 1 POU-specific domain. WEB RESOURCE: Name=Wikipedia; Note=Oct-4 entry; URL="http://en.wikipedia.org/wiki/Oct-4";
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q01860
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.