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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  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
  Genetic Association Database: POU5F1
CDC HuGE Published Literature: POU5F1
Positive Disease Associations: Behcet Syndrome , Multiple Sclerosis , Stevens-Johnson Syndrome
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  3. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.7054-0.254 Picture PostScript Text
3' UTR -72.90264-0.276 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeobox_dom
IPR009057 - Homeodomain-like
IPR010982 - Lambda_DNA-bd_dom
IPR013847 - POU
IPR015585 - POU_dom_5/6
IPR000327 - POU_specific

Pfam Domains:
PF00046 - Homeobox domain
PF00157 - Pou domain - N-terminal to homeobox domain

SCOP Domains:
47413 - lambda repressor-like DNA-binding domains
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q01860
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Jackson Lab     
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AM851115 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 1.
DQ486517 - Homo sapiens POU domain transcription factor Oct-3 alternative transcript 6.4 (POU5F1) pseudogene mRNA, complete sequence, alternatively spliced.
Z11899 - H.sapiens OTF3 mRNA encoding octamer binding protein 3B.
BC020712 - Homo sapiens POU domain, class 5, transcription factor 1, mRNA (cDNA clone IMAGE:4717277).
DQ486515 - Homo sapiens POU domain transcription factor Oct-3 alternative transcript 6.2 (POU5F1) pseudogene mRNA, complete sequence, alternatively spliced.
DQ486516 - Homo sapiens POU domain transcription factor Oct-3 alternative transcript 6.3 (POU5F1) pseudogene mRNA, complete sequence, alternatively spliced.
DQ486514 - Homo sapiens POU domain transcription factor Oct-3 alternative transcript 6.1 (POU5F1) pseudogene mRNA, complete sequence, alternatively spliced.
BC069246 - Homo sapiens POU class 5 homeobox 1, mRNA (cDNA clone IMAGE:6578897), with apparent retained intron.
Z11898 - H.sapiens OTF3 mRNA encoding octamer binding protein 3A.
BC117435 - Homo sapiens POU class 5 homeobox 1, mRNA (cDNA clone MGC:151044 IMAGE:40125986), complete cds.
BC117437 - Homo sapiens POU class 5 homeobox 1, mRNA (cDNA clone MGC:151046 IMAGE:40125988), complete cds.
GU480808 - Homo sapiens isolate NT2-1 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480809 - Homo sapiens isolate NT2-2 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480810 - Homo sapiens isolate NT2-3 POU domain transcription factor OCT4 (POU5F1)-like mRNA, complete sequence.
GU480811 - Homo sapiens isolate NT2-4 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480812 - Homo sapiens isolate NT2-5 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480813 - Homo sapiens isolate NT2-6 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480815 - Homo sapiens isolate NT2-8 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480816 - Homo sapiens isolate NT2-9 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480817 - Homo sapiens isolate NT2-10 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480818 - Homo sapiens isolate NT2-11 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480819 - Homo sapiens isolate NT2-12 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480820 - Homo sapiens isolate NT2-13 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480821 - Homo sapiens isolate NT2-14 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480822 - Homo sapiens isolate NT2-15 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480823 - Homo sapiens isolate NT2-16 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480824 - Homo sapiens isolate NT2-17 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480825 - Homo sapiens isolate NT2-18 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480826 - Homo sapiens isolate NT2-19 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480827 - Homo sapiens isolate NT2-20 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480828 - Homo sapiens isolate NT2-21 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480829 - Homo sapiens isolate NT2-22 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480830 - Homo sapiens isolate NT2-23 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
GU480844 - Homo sapiens clone U251-14 POU domain transcription factor OCT4-pg1 (POU5F1P1) pseudogene mRNA, complete sequence.
GU480856 - Homo sapiens clone MCF7-3 POU domain transcription factor OCT4-pg4 (POU5F1P4) pseudogene mRNA, complete sequence.
GU480886 - Homo sapiens clone Glioma-12 POU domain transcription factor OCT4-pg1 (POU5F1P1) mRNA, complete cds.
GU480888 - Homo sapiens clone Glioma-14 POU domain transcription factor OCT4-pg3 (POU5F1P3) pseudogene mRNA, complete sequence.
GU480891 - Homo sapiens clone Glioma-17 POU domain transcription factor OCT4-pg3 (POU5F1P3) pseudogene mRNA, complete sequence.
GU480897 - Homo sapiens clone B-2 POU domain transcription factor OCT4-pg3 (POU5F1P3) mRNA, complete cds.
GU480915 - Homo sapiens clone B-20 POU domain transcription factor OCT4-pg3 (POU5F1P3) mRNA, complete cds.
HQ122658 - Homo sapiens clone S-1 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122659 - Homo sapiens clone S-2 POU domain transcription factor OCT4-like (POU5F1) mRNA, complete sequence.
HQ122660 - Homo sapiens clone S-3 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122661 - Homo sapiens clone S-4 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122662 - Homo sapiens clone S-5 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122663 - Homo sapiens clone S-6 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122664 - Homo sapiens clone S-7 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122665 - Homo sapiens clone S-8 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122666 - Homo sapiens clone S-9 POU domain transcription factor OCT4-like (POU5F1) mRNA, complete sequence.
HQ122667 - Homo sapiens clone S-10 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122668 - Homo sapiens clone S-11 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122669 - Homo sapiens clone S-12 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122670 - Homo sapiens clone S-13 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122671 - Homo sapiens clone S-14 POU domain transcription factor OCT4-like (POU5F1) mRNA, complete sequence.
HQ122672 - Homo sapiens clone S-15 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122673 - Homo sapiens clone S-16 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122674 - Homo sapiens clone S-17 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122675 - Homo sapiens clone S-18 POU domain transcription factor OCT4 (POU5F1) mRNA, complete cds.
HQ122860 - Homo sapiens clone LB-12 POU domain transcription factor OCT4-pg4 (POU5F1P4) mRNA, complete cds.
HQ122904 - Homo sapiens clone Basal-1 POU domain transcription factor OCT4-pg4 (POU5F1P4) pseudogene mRNA, complete sequence.
HQ258221 - Synthetic construct Homo sapiens clone IMAGE:100072530 POU class 5 homeobox 1 (POU5F1) gene, encodes complete protein.
HQ258573 - Synthetic construct Homo sapiens clone IMAGE:100073096 POU class 5 homeobox 1 (POU5F1) gene, encodes complete protein.
AB528279 - Synthetic construct DNA, clone: pF1KB7614, Homo sapiens OCT4 gene for POU class 5 homeobox 1, without stop codon, in Flexi system.
S81255 - OCT4=transcriptional regulator [human, tripronuclear ova and embryos, mRNA Partial, 225 nt].
AY730056 - Homo sapiens POU domain class 5 transcription factor 1-like (POU5F1) mRNA, partial sequence.
EU518650 - Homo sapiens POU domain transcription factor Oct4 isoform 3 (POU5F1) mRNA, complete cds, alternatively spliced.
FM177952 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003059.
FM177953 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003060.
FM177954 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-1.
FM177955 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-2.
FM177956 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-TAKA-01.
FM177959 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-TAKA-04.
FM177960 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-TAKA-05.
FM177961 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-TAKA-06.
FM177962 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-TAKA-08.
FM177963 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone EC-TAKA-09.
FM177965 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone BM1819.
FM177968 - Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone UVSC-TAKA-01.
AM851123 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 9.
AM851121 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 7.
AM851116 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 2.
AM851118 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 4.
AM851125 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 11.
AM851119 - Homo sapiens mRNA for putative truncated POU domain class 5 transcription factor 1 (POU5F1 gene), clone 5.
AM851120 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 6.
AM851117 - Homo sapiens mRNA for putative truncated POU domain class 5 transcription factor 1 (POU5F1 gene), clone 3.
AM851126 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 12.
AM851124 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 10.
AM851122 - Homo sapiens partial mRNA for POU domain class 5 transcription factor 1 (POU5F1 gene), clone 8.
HW243465 - JP 2013512690-A/16: RNA PREPARATIONS COMPRISING PURIFIED MODIFIED RNA FOR REPROGRAMMING CELLS.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NCS1, A6NLL8, D2IYK4, NM_002701, NP_002692, OCT3, OCT4, OTF3, P31359, PO5F1_HUMAN, Q01860, Q15167, Q15168, Q16422, Q5STF3, Q5STF4
UCSC ID: uc011gwl.2
RefSeq Accession: NM_002701
Protein: Q01860 (aka PO5F1_HUMAN