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Aliases for POU5F1 Gene

Aliases for POU5F1 Gene

  • POU Class 5 Homeobox 1 2 3 5
  • Octamer-Binding Transcription Factor 3 3 4
  • Octamer-Binding Protein 3 3 4
  • Octamer-Binding Protein 4 3 4
  • OTF-3 3 4
  • Oct-3 3 4
  • Oct-4 3 4
  • OTF3 3 4
  • OCT3 3 4
  • OCT4 3 4
  • POU-Type Homeodomain-Containing DNA-Binding Protein 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B1 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B2 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B3 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B4 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B5 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B6 3
  • POU Domain Class 5, Transcription Factor 1 2
  • POU Domain Class 5 Transcription Factor 1 3
  • POU Domain Transcription Factor OCT4 3
  • OTF4 3

External Ids for POU5F1 Gene

Previous HGNC Symbols for POU5F1 Gene

  • OTF3

Previous GeneCards Identifiers for POU5F1 Gene

  • GC08P127435
  • GC06M031188
  • GC06M030902
  • GC06M031238
  • GC06M031240
  • GC06M031133
  • GC06M030934

Summaries for POU5F1 Gene

Entrez Gene Summary for POU5F1 Gene

  • 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]

GeneCards Summary for POU5F1 Gene

POU5F1 (POU Class 5 Homeobox 1) is a Protein Coding gene. Diseases associated with POU5F1 include embryonal carcinoma and teratoma. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Wnt / Hedgehog / Notch. GO annotations related to this gene include poly(A) RNA binding and sequence-specific DNA binding. An important paralog of this gene is POU6F1.

UniProtKB/Swiss-Prot for POU5F1 Gene

  • 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.

Gene Wiki entry for POU5F1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU5F1 Gene

Genomics for POU5F1 Gene

Regulatory Elements for POU5F1 Gene

Enhancers for POU5F1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POU5F1 on UCSC Golden Path with GeneCards custom track

Promoters for POU5F1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POU5F1 on UCSC Golden Path with GeneCards custom track

Genomic Location for POU5F1 Gene

Chromosome:
6
Start:
31,164,337 bp from pter
End:
31,180,731 bp from pter
Size:
16,395 bases
Orientation:
Minus strand

Genomic View for POU5F1 Gene

Genes around POU5F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU5F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU5F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for POU5F1 Gene

  • Protein details for POU5F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01860-PO5F1_HUMAN
    Recommended name:
    POU domain, class 5, transcription factor 1
    Protein Accession:
    Q01860
    Secondary Accessions:
    • A6NCS1
    • A6NLL8
    • D2IYK4
    • P31359
    • Q15167
    • Q15168
    • Q16422
    • Q5STF3
    • Q5STF4

    Protein attributes for POU5F1 Gene

    Size:
    360 amino acids
    Molecular mass:
    38571 Da
    Quaternary structure:
    • Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PKM. Interacts with WWP2. Interacts with PCGF1 (PubMed:26687479).
    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.

    Alternative splice isoforms for POU5F1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU5F1 Gene

Proteomics data for POU5F1 Gene at MOPED

Post-translational modifications for POU5F1 Gene

  • 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.
  • Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression (By similarity).
  • Ubiquitinated; undergoes Lys-63-linked polyubiquitination by WWP2 leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POU5F1 (4-Oct)

Assay Products

  • Cloud-Clone Corp Assay Kits for POU5F1

No data available for DME Specific Peptides for POU5F1 Gene

Domains & Families for POU5F1 Gene

Gene Families for POU5F1 Gene

Protein Domains for POU5F1 Gene

Graphical View of Domain Structure for InterPro Entry

Q01860

UniProtKB/Swiss-Prot:

PO5F1_HUMAN :
  • The POU-specific domain mediates interaction with PKM.
  • Belongs to the POU transcription factor family. Class-5 subfamily.
Domain:
  • The POU-specific domain mediates interaction with PKM.
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 POU-specific domain.
Family:
  • Belongs to the POU transcription factor family. Class-5 subfamily.
genes like me logo Genes that share domains with POU5F1: view

Function for POU5F1 Gene

Molecular function for POU5F1 Gene

GENATLAS Biochemistry:
POU domain,class 5,transcription factor 1,expressed in neuronal cells,with OCT5 likely a proteolytic product of OCT3
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Transcriptional activity is positively regulated by PKM.

LifeMap Function Summary for POU5F1 Gene

POU5F1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISS --
GO:0005515 protein binding IPI 11099378
GO:0044212 transcription regulatory region DNA binding IDA 19736317
genes like me logo Genes that share ontologies with POU5F1: view
genes like me logo Genes that share phenotypes with POU5F1: view

Animal Models for POU5F1 Gene

MGI Knock Outs for POU5F1:

Animal Model Products

Targeted motifs for POU5F1 Gene
HOMER Transcription Factor Regulatory Elements motif POU5F1
  • Consensus sequence: ATTTGCATAA Submotif: canonical Cell Type: mES GEO ID: GSE11431

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for POU5F1 Gene

Localization for POU5F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU5F1 Gene

Cytoplasm. Nucleus. Note=Expressed in a diffuse and slightly punctuate pattern.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POU5F1 Gene COMPARTMENTS Subcellular localization image for POU5F1 gene
Compartment Confidence
nucleus 4
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 18000303
genes like me logo Genes that share ontologies with POU5F1: view

Pathways & Interactions for POU5F1 Gene

genes like me logo Genes that share pathways with POU5F1: view

SIGNOR curated interactions for POU5F1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 19409607
GO:0003130 BMP signaling pathway involved in heart induction IMP 19736317
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 16153702
GO:0035019 somatic stem cell population maintenance TAS --
GO:0042789 mRNA transcription from RNA polymerase II promoter ISS --
genes like me logo Genes that share ontologies with POU5F1: view

Drugs & Compounds for POU5F1 Gene

(3) Drugs for POU5F1 Gene - From: DrugBank and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist, Transporter, substrate 3636
Norepinephrine Approved Pharma Transporter, substrate 654
Allopurinol Approved Pharma 132

(4) Additional Compounds for POU5F1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with POU5F1: view

Transcripts for POU5F1 Gene

mRNA/cDNA for POU5F1 Gene

Unigene Clusters for POU5F1 Gene

POU class 5 homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POU5F1 Gene

No ASD Table

Relevant External Links for POU5F1 Gene

GeneLoc Exon Structure for
POU5F1
ECgene alternative splicing isoforms for
POU5F1

Expression for POU5F1 Gene

mRNA expression in normal human tissues for POU5F1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU5F1 Gene

This gene is overexpressed in Kidney - Cortex (x7.0), Bladder (x6.1), and Pancreas (x4.4).

Protein differential expression in normal tissues from HIPED for POU5F1 Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POU5F1 Gene



SOURCE GeneReport for Unigene cluster for POU5F1 Gene Hs.249184

mRNA Expression by UniProt/SwissProt for POU5F1 Gene

Q01860-PO5F1_HUMAN
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.
genes like me logo Genes that share expression patterns with POU5F1: view

Protein tissue co-expression partners for POU5F1 Gene

Primer Products

In Situ Assay Products

Orthologs for POU5F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU5F1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POU5F1 35
  • 88.61 (n)
  • 90.83 (a)
-- 36
  • 70 (a)
ManyToMany
POU5F1 36
  • 92 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia POU5F1 35
  • 88.98 (n)
  • 90.83 (a)
-- 36
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pou5f1 35
  • 82.58 (n)
  • 84.66 (a)
Pou5f1 16
Pou5f1 36
  • 86 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia POU5F1 35
  • 99.91 (n)
  • 100 (a)
POU5F1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou5f1 35
  • 82.2 (n)
  • 84.94 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves POUV 36
  • 40 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.23276 35
zebrafish
(Danio rerio)
Actinopterygii pou5f1 35
pou5f3 36
  • 29 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta acj6 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-86 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToMany
Species with no ortholog for POU5F1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for POU5F1 Gene

ENSEMBL:
Gene Tree for POU5F1 (if available)
TreeFam:
Gene Tree for POU5F1 (if available)

Paralogs for POU5F1 Gene

genes like me logo Genes that share paralogs with POU5F1: view

Variants for POU5F1 Gene

Sequence variations from dbSNP and Humsavar for POU5F1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_003774 -
VAR_003775 -
rs1150767 - 31,165,268(-) AAACC(C/T)TCGTG reference, missense
VAR_046204 -
rs1062630 -- 31,170,330(-) GAGGG(C/T)GAAGC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for POU5F1 Gene

Variant ID Type Subtype PubMed ID
esv2731791 CNV Deletion 23290073
dgv1918e1 CNV Complex 17122850
dgv1919e1 CNV Complex 17122850
nsv428140 CNV Gain+Loss 18775914
esv690 CNV CNV 17122850
nsv525933 CNV Loss 19592680
nsv524061 CNV Loss 19592680

Variation tolerance for POU5F1 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POU5F1 Gene

HapMap Linkage Disequilibrium report
POU5F1
Human Gene Mutation Database (HGMD)
POU5F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU5F1 Gene

Disorders for POU5F1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for POU5F1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
teratoma
  • teratomas
germinoma
  • pineal germinoma
central nervous system germinoma
  • intracranial germinoma
ewing sarcoma
  • neuroepithelioma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POU5F1

Genetic Association Database (GAD)
POU5F1
Human Genome Epidemiology (HuGE) Navigator
POU5F1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POU5F1
genes like me logo Genes that share disorders with POU5F1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU5F1 Gene

Publications for POU5F1 Gene

  1. Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues. (PMID: 1408763) Takeda J. … Bell G.I. (Nucleic Acids Res. 1992) 2 3 4 23 67
  2. EWS-Oct-4B, an alternative EWS-Oct-4 fusion gene, is a potent oncogene linked to human epithelial tumours. (PMID: 20051954) Kim S. … Kim J. (Br. J. Cancer 2010) 3 23
  3. Pluripotency factors Lin28 and Oct4 identify a sub-population of stem cell-like cells in ovarian cancer. (PMID: 20101213) Peng S. … Huang Y. (Oncogene 2010) 3 23
  4. Oct-4 controls cell-cycle progression of embryonic stem cells. (PMID: 19968627) Lee J. … Kim J. (Biochem. J. 2010) 3 23
  5. Transcriptional regulation of the Oct4 gene, a master gene for pluripotency. (PMID: 20054811) Kellner S. … Kikyo N. (Histol. Histopathol. 2010) 3 23

Products for POU5F1 Gene

Sources for POU5F1 Gene

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