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Symbol POU5F1 contributors: mct/ - updated : 11-09-2017
HGNC name POU class 5 homeobox 1
HGNC id 9221
Location 6p21.33      Physical location : 2.427.966 - 31.138.451
Synonym name
  • octamer-binding transcription factor 3
  • octamer-binding protein 4
  • POU domain, class 5, transcription factor 1
  • POU-type homeodomain-containing DNA-binding protein
  • Synonym symbol(s) OCT3, OTF3, OTF4, OCT4, MGC22487
    TYPE functioning gene
    STRUCTURE 6.34 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • promoter contains potent three NR5A2 binding sites; one within conserved region (CR) 1 and two within CR2
  • MAPPING cloned Y linked Y status confirmed
    Map pter - HLA-A - HLA-E - CDSN - CCHCR1 - TCF19 - POU5F1 - HLA-C - HLA-B - cen
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 1411 38.6 360 always expressed in the nucleus of compacted embryos, blastocysts, embryonic stem cells, germ cells, and germ cell tumors 2012 23024368
  • also called OCT4A
  • necessary for “stemness
  • contains five putative ERK1/2 phosphorylation sites
  • ERK mediates the down-regulation of OCT4A and induces its nuclear exclusion
  • Ser-111 phosphorylation enhances OCT4A proteasome-dependent degradation
  • 4 splicing 1743 - 190 - 2010 20230781
    also called OCT4B-190
    5 - 1257 - 190 expressed in the cytoplasm of all cells from the four-cell stage onwards and detected in various nonpluripotent cell types 2010 20230781
  • also called OCT4B-190
  • does not sustain ES cell self-renewal but may respond to cell stress
  • - - - - - - 2010 20230781
  • also called OCT4B IRES
  • has cryptic promoter activity (minimal sequence nt 201–231 has potentially promoter activity)
  • minimal element (nt 201–231) can promote internal initiation of OCT4B
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     stomach   moderately
    Lymphoid/Immunelymph node   moderately
    Reproductivefemale systemovary  highly
     female systembreastmammary gland  
     female systemuterus  moderately
     male systemprostate  highly
    Urinarybladder   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    cell lineage progenitor of mesodermal lineage (MPCs)
    cell lines
  • expressed in testicular gem cell tumors (GCTs)
  • expressed in germ-cell tumors as well as putative cancer stem cells in several tumors
  • fluid/secretion
    at STAGE
  • N-terminal transactivation domain required for activation of Lefty1 expression
  • a homeobox DNA-binding domain
  • a POU (Pit, Oct, Unc) specific domain
  • a'NORE' (N-Oct-3 responsive element) comprising the 14 bp sequence element TNNRTAAATAATRN, involved in homodimerization
  • mono polymer homomer , heteromer , dimer
    interspecies homolog to rattus Pou5f1 (86.4pc)
    homolog to murine Pou5f1 (86.1pc)
    homolog to zebrafish pou5f1
    intraspecies paralog to SLC22A1
  • POU (Pit/OCT/Unc) family of transcription factors
  • class-5 subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
  • nucleocytoplasmic shuttling protein
  • basic FUNCTION
  • prime candidate for an early developmental control gene
  • involved in regulation of pluripotency during normal development and is detectable in embryonic stem and germ cells
  • potential transcriptional activator for fibroblast growth factor-4 (FGF4) in breast cancer cells
  • is essential for a normal post-stress transcriptional response
  • may be an oncogenic factor in GCTs
  • inhibitory effect of POU5F1 is mediated by transactivation domains
  • controlling cell cycle progression of embryonic stem cells and repressing CDKN1A
  • transcription factor, playing an important role in maintaining the pluripotency and self-renewal of embryonic stem (ES) cells
  • involved in embryonic stem cell differentiation
  • POU5F1 and TSIX are crucial toward achieving the balance of multiple XIST activators and repressors
  • acts as a transcriptional activator during dorsoventral patterning
  • POU5F1, SOX2, and NANOG cooperate with a wide array of cofactors to orchestrate an embryonic stem (ES) cell-specific gene expression program that forms the molecular basis of pluripotency
  • important roles of POU5F1 and NANOG in maintaining mesenchymal stem cells properties
  • necessary and sufficient function of POU5F1 in promoting pluripotency is to activate specific target genes
  • is essential for maintaining pluripotency in embryonic stem cells (ESCs)
  • POU5F1-gene regulatory network thus provides a connection between eggs, early preimplantation embryos and embryonic stem cells
  • critical role in both maintenance of the undifferentiated state of embryonic stem (ES) cells and in the reprogramming of somatic cells to induced pluripotent stem cells
  • to function as a transcription factor that maintains the undifferentiated state of ES cells, only has to stay transiently in the nucleus
  • plays distinct roles in the self-renewal of ES cells and in somatic cell reprogramming
  • a defined POU5F1 level controls the establishment of naive pluripotency as well as commitment to all embryonic lineages
  • upon the induction of ESC differentiation, OTX2 alone or in combination with POU5F1 engages new enhancers, which are silent in undifferentiated ESCs
  • CELLULAR PROCESS nucleotide, transcription, regulation
    text morphogenesis
    a component
  • CXXC5 forms a complex with NANOG, POU5F1, TET1, and TET2 and facilitates their proper recruitment to regulatory regions of pluripotency and TET genes in ESCs to positively regulate their transcription
    DNA binding to the octamer motif 5'-ATTTGCAT-3'
    small molecule
  • direct target of LEFTY1 (cooperation of Kruppel-like factor 4 (KLF4) cooperates with POU5F1 and and SOX2 to activate LEFTY1 expression)
  • ZNF281 directly activate NANOG expression by binding to a site in the promoter in very close proximity to the POU5F1 and SOX2 binding sites
  • interacting with KPNA2
  • POU5F1 and WDR5 are partners in transcriptional regulation
  • acts as a transcriptional suppressor of MYOD1 gene expression through its interaction with the upstream enhancer region
  • involved in the synergistic activation of NANOG, that requires a multisubunit stem cell coactivator complex (SCC)
  • SOX2 cooperates with POU5F1 to activate downstream target genes by binding to Oct-Sox enhancers
  • NR5A2 acts as a transcriptional activator in the regulation of POU5F1 gene expression through the cooperative interaction with three binding sites directly or/and indirectly
  • MBD6 was detected as an POU5F1 regulatory gene
  • CDK1 and POU5F1 interplay to inhibit ES cell differentiation into trophectoderm and thereby maintain stemness
  • ITCH interacts with and targets pluripotency-associated transcription factor POU5F1 for ubiquitination
  • can upregulate BIRC5 and CCND1 expression by increasing their promoter activity, and these factors collusively promotes hepatocellular carcinoma cell proliferation
  • genomic redistribution of POU5F1 by alternative partnering with SOX2 and SOX17 is a fundamental regulatory event of endodermal specification
  • its post-translational modifications form a positive feedback loop, which promote AKT1 activation and interaction with HMGB2 and the SET Complex
  • chromatin regulators EP300, KDM5A, KDM6A and KDM6B cooperate with KLF4 in promoting the transcription of POU5F1
  • TAF4B cooperates with POU5F1 to regulate a subset of genes in ESC, whereas TAF4 is required for later embryonic developmental stages
  • regulates the proper splicing of transcripts encoding for pluripotency regulators such as POU5F1, PRDM14, E4F1 and MED24
  • DIDO1 could target to the loci of pluripotency factors such as NANOG and POU5F1 and positively regulate their expression
  • oncogenic factor ETV4 regulates POU5F1 gene expression as a transcriptional activator
  • affects the metastatic potential of breast cancer cells through RND1-mediated effects that influence cell motility and E-cadherin expression
  • TRIM32 modulates pluripotency entry and exit by directly regulating POU5F1 stability
  • DPF2 decreases monomeric and mono-ubiquitinated POU5F1, assembles poly-ubiquitin chains on POU5F1 mainly through Ub-K48 linkage
  • NACC1 coordinates differentiation by activating POU5F1 and inhibiting both SOX2 and TCF3
  • DPF2, also named ubi-d4/requiem (REQU), interacts with a protein complex containing POU5F1
  • novel roles for PCGF6 in directly regulating POU5F1, NANOG, SOX2, and LIN28A expression to maintain ESC identity
  • dynamic interplay between POU2F1 and POU2F5, in particular during the critical window immediately after loss of pluripotency when cells make the earliest developmental fate decisions
  • HELLS assists gene repression upon binding to the POU5F1 promoter region
  • cell & other
    Phosphorylated by ERK2 (several putative ERK phosphorylation sites, and ERK2 phosphorylated these sites)
    Other self regulation of POU5F1 may be mediated via a negative feedback loop in pluripotent cells
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    differentially up-regulated in germ cells seminomas
    tumoral     --over  
    in carcinoma in situ/gonadoblastoma, seminomas/germinoma/dysgerminoma, and embryonal carcinoma undifferentiated, and in breast cancer
    tumoral fusion      
    wirh EWSR1 in t(6;22)(p21;q12) associated with bone and soft-tissue tumours resulting in a chimaeric molecule fusing the NTD (N-terminal domain) of the EWSR1 to the CTD (C-terminal domain) of POU5F1 embryonic gene
    Susceptibility to psoriasis
    Variant & Polymorphism
    Candidate gene
    Therapy target
    co-suppression of POU5F1 and BIRC5 is potentially beneficial for HCC treatment