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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 3
  • POU Domain Class 5, Transcription Factor 1 2
  • POU Domain Transcription Factor OCT4 3
  • POU ClassV Homeobox 1 Variant 2 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]

CIViC summary for POU5F1 Gene

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 Human Early Embryo Development and Transcriptional regulation of pluripotent stem cells. GO annotations related to this gene include poly(A) RNA binding and sequence-specific DNA binding. An important paralog of this gene is POU5F1B.

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

Additional gene information 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H031207 1.4 Ensembl ENCODE dbSUPER 41.2 -28.8 -28751 3 ELF3 FOXA2 ARID4B DMAP1 THRB RARA CREM THAP11 CEBPB PPARG POU5F1 PSORS1C3 HLA-C HCG27 CCHCR1 ENSG00000272501 ENSG00000229836 ENSG00000271581 HLA-B AGER
GH06H031185 1.5 Ensembl ENCODE dbSUPER 33 -5.8 -5818 2 PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 MXD4 NFYC TSHZ1 ENSG00000272501 PSORS1C3 POU5F1 PSORS1C2 CCHCR1 PSORS1C1 MICB MICA HCG22 HLA-C
GH06H031196 1.4 ENCODE dbSUPER 32.7 -17.2 -17167 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PSORS1C3 ENSG00000272501 POU5F1 PSORS1C2 PRRT1 HLA-C GNL1 EHMT2 CCHCR1 LY6G5B
GH06H031180 0.9 ENCODE dbSUPER 36 -0.2 -232 0 PKNOX1 ZNF687 DDX20 MAX NFYC ELF1 RFX5 NFYB MLLT1 ZBTB33 POU5F1 ENSG00000272501 GPANK1 BAG6 CCHCR1 MDC1 TRIM39 VARS DHX16 CSNK2B
GH06H031215 1.2 Ensembl ENCODE dbSUPER 18.5 -35.5 -35531 1 ELF3 FOXA2 MAX ELF1 E2F1 CBX1 CBX5 POLR2A ZBTB33 MLLT1 PSORS1C3 HLA-C POU5F1 CCHCR1 ENSG00000272501 LINC02569 ENSG00000255726 ENSG00000271821
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000195510 131 801 PKNOX1 ZNF687 NFYB DDX20 MAX ELF1 RFX5

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). Interacts with ESRRB; recruits ESRRB near the POU5F1-SOX2 element in the NANOG proximal promoter; the intercaction is DNA independent (By similarity).
    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

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

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

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.
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:

Phenotypes From GWAS Catalog for POU5F1 Gene

Gene Ontology (GO) - Molecular Function for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19409607
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISS --
GO:0001158 enhancer sequence-specific DNA binding ISS --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 19409607
GO:0003677 DNA binding IEA,IDA 16153702
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

CRISPR 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

Clone Products

  • Applied Biological Materials Clones for POU5F1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU5F1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus IEA,IDA 18000303
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 18281244
GO:0005739 mitochondrion IDA --
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:0001714 endodermal cell fate specification IDA 20713518
GO:0001824 blastocyst development ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA,IEA 16153702
genes like me logo Genes that share ontologies with POU5F1: view

Drugs & Compounds for POU5F1 Gene

(5) Drugs for POU5F1 Gene - From: DrugBank, PharmGKB, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist, Transporter, substrate 3926
Norepinephrine Approved Pharma Transporter, substrate 718
Allopurinol Approved Pharma 149
OAC1 Pharma Oct4 activator 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for POU5F1 Gene

Compound Action Cas Number
OAC1 Oct4 activator 300586-90-7
genes like me logo Genes that share compounds with POU5F1: view

Drug Products

Transcripts for POU5F1 Gene

mRNA/cDNA for POU5F1 Gene

Unigene Clusters for POU5F1 Gene

POU class 5 homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POU5F1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for POU5F1 Gene

NURSA nuclear receptor signaling pathways regulating expression of POU5F1 Gene:

POU5F1

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.

Evidence on tissue expression from TISSUES for POU5F1 Gene

  • Blood(4.4)
  • Heart(4.4)
  • Muscle(4.4)
  • Kidney(4.3)
  • Lung(4.3)
  • Nervous system(2.3)
  • Bone marrow(2.1)
  • Liver(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with POU5F1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for POU5F1 Gene

Orthologs for POU5F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU5F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POU5F1 33 34
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 91 (a)
OneToMany
POU5F1 33
  • 88.98 (n)
cow
(Bos Taurus)
Mammalia POU5F1 33 34
  • 88.61 (n)
-- 34
  • 70 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Pou5f1 33 16 34
  • 82.58 (n)
rat
(Rattus norvegicus)
Mammalia Pou5f1 33
  • 82.2 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves POUV 34
  • 40 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.23276 33
zebrafish
(Danio rerio)
Actinopterygii pou5f3 34
  • 29 (a)
OneToMany
pou5f1 33
fruit fly
(Drosophila melanogaster)
Insecta acj6 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-86 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
Species where no ortholog for POU5F1 was found in the sources mined by GeneCards:
  • 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
rs1000615578 -- 31,164,140(+) GGGCA(A/G)AAGTT downstream-variant-500B, utr-variant-3-prime
rs1001282425 -- 31,167,846(+) GCCCT(G/T)AAGTG intron-variant, upstream-variant-2KB
rs1001547868 -- 31,165,347(+) CATCA(C/T)AGGGG intron-variant
rs1001781252 -- 31,172,373(+) GAGGT(-/G)GAGAG upstream-variant-2KB
rs1002148625 -- 31,172,618(+) GGCCA(-/G)GGCTC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1174e214 CNV gain 21293372
dgv1175e214 CNV gain 21293372
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv3411275 CNV duplication 20981092
esv3608531 CNV loss 21293372
esv3608532 CNV gain 21293372
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv524061 CNV loss 19592680
nsv525933 CNV loss 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv970105 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
POU5F1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU5F1

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

Disorders for POU5F1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
teratoma
germ cell and embryonal cancer
  • germ cell and embryonal neoplasm
central nervous system germinoma
  • intracranial germinoma
central nervous system germ cell tumor
  • germ cell tumor of the cns
- 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 GI (Nucleic acids research 1992) 2 3 4 22 60
  2. Pyruvate kinase isozyme type M2 (PKM2) interacts and cooperates with Oct-4 in regulating transcription. (PMID: 18191611) Lee J … Kim J (The international journal of biochemistry & cell biology 2008) 3 4 22 60
  3. Oct4 pseudogenes are transcribed in cancers. (PMID: 16229821) Suo G … Dai J (Biochemical and biophysical research communications 2005) 3 4 22 60
  4. A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis. (PMID: 12653732) Chang YT … Wong CK (The British journal of dermatology 2003) 3 22 45 60
  5. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G … Cagney G (Scientific reports 2015) 3 4 60

Products for POU5F1 Gene

Sources for POU5F1 Gene

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