POU5F1
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Also known as OCT3Oct4MGC22487OCT-4Oct3/4
Summary
POU5F1 (POU class 5 homeobox 1, HGNC:9221) is a protein-coding gene on chromosome 6p21.33, encoding POU domain, class 5, transcription factor 1 (Q01860). Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’). In precision oncology, POU5F1 EXPRESSION is associated with resistance to Oxaliplatin in Colon Cancer (CIViC Level D).
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.
Source: NCBI Gene 5460 — RefSeq curated summary.
At a glance
- Gene–disease (curated): primary ovarian failure (Limited, GenCC)
- GWAS associations: 53
- Clinical variants (ClinVar): 24 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Precision-oncology evidence (CIViC): 1 curated variant–drug association
- Transcription factor: yes — 103 downstream targets (CollecTRI)
- MANE Select transcript:
NM_002701
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9221 |
| Approved symbol | POU5F1 |
| Name | POU class 5 homeobox 1 |
| Location | 6p21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OCT3, Oct4, MGC22487, OCT-4, Oct3/4 |
| Ensembl gene | ENSG00000204531 |
| Ensembl biotype | protein_coding |
| OMIM | 164177 |
| Entrez | 5460 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000259915, ENST00000441888, ENST00000461401, ENST00000471529, ENST00000512818, ENST00000513407, ENST00000606567
RefSeq mRNA: 4 — MANE Select: NM_002701
NM_001173531, NM_001285986, NM_002701, NM_203289
CCDS: CCDS34391, CCDS47398, CCDS75420
Canonical transcript exons
ENST00000259915 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001834753 | 31170216 | 31170682 |
| ENSE00003605759 | 31165927 | 31166047 |
| ENSE00003631186 | 31165571 | 31165701 |
| ENSE00003697734 | 31165128 | 31165286 |
| ENSE00003736761 | 31164337 | 31164867 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 96.02.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.4348 / max 205.0755, expressed in 109 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72647 | 3.3698 | 109 |
| 72646 | 0.0650 | 34 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 96.02 | gold quality |
| right uterine tube | UBERON:0001302 | 87.10 | gold quality |
| metanephros cortex | UBERON:0010533 | 85.33 | gold quality |
| endometrium | UBERON:0001295 | 84.22 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 82.67 | gold quality |
| cortex of kidney | UBERON:0001225 | 82.12 | gold quality |
| body of pancreas | UBERON:0001150 | 82.01 | gold quality |
| body of stomach | UBERON:0001161 | 80.14 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.75 | gold quality |
| kidney | UBERON:0002113 | 79.38 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 78.45 | gold quality |
| small intestine | UBERON:0002108 | 77.20 | gold quality |
| stomach | UBERON:0000945 | 76.39 | gold quality |
| fallopian tube | UBERON:0003889 | 75.71 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.50 | gold quality |
| pancreas | UBERON:0001264 | 75.32 | gold quality |
| left uterine tube | UBERON:0001303 | 75.29 | gold quality |
| transverse colon | UBERON:0001157 | 75.25 | gold quality |
| fundus of stomach | UBERON:0001160 | 74.76 | gold quality |
| right lobe of liver | UBERON:0001114 | 74.55 | gold quality |
| duodenum | UBERON:0002114 | 73.72 | gold quality |
| gall bladder | UBERON:0002110 | 73.17 | gold quality |
| apex of heart | UBERON:0002098 | 72.93 | gold quality |
| prostate gland | UBERON:0002367 | 72.89 | gold quality |
| intestine | UBERON:0000160 | 71.57 | gold quality |
| sural nerve | UBERON:0015488 | 71.27 | gold quality |
| urinary bladder | UBERON:0001255 | 70.51 | gold quality |
| colon | UBERON:0001155 | 70.29 | gold quality |
| endocervix | UBERON:0000458 | 69.47 | gold quality |
| blood | UBERON:0000178 | 69.44 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | yes | 469.92 |
| E-MTAB-10485 | yes | 73.79 |
| E-ANND-3 | no | 1.83 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
103 targets.
| Target | Regulation |
|---|---|
| ACTG2 | |
| AFP | Repression |
| AHR | |
| AKT1 | Repression |
| BACE1-AS | Activation |
| BIRC5 | Activation |
| BMP4 | Repression |
| BRCA1 | Activation |
| CCN2 | |
| CCND1 | Unknown |
| CCNF | Activation |
| CDH1 | |
| CDKN1A | Repression |
| CDKN2A | |
| CDX2 | Repression |
| CGA | Unknown |
| CGB3 | Repression |
| CNTF | |
| CXCR4 | Activation |
| DDC | Unknown |
| DKK1 | Repression |
| DLX5 | Repression |
| DNMT1 | Activation |
| DPPA4 | Activation |
| E2F3 | Activation |
| EED | Unknown |
| EOMES | Repression |
| ESRG | Activation |
| FBXO15 | Unknown |
| FGF4 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1115.1 | POU5F1 | POU domain factors |
| MA1115.2 | POU5F1 | POU domain factors |
JASPAR matrix evidence (PMIDs): PMID:23747866
Upstream regulators (CollecTRI, top): CDX2, CEBPD, CRX, CTNNB1, DNMT3A, ELF3, EPAS1, ESRRB, ETV4, EWSR1, FEZF1, FOXC1, FOXD3, FOXO1, GABPA, GSK3B, HDAC1, HIF1A, KLF4, LEF1, MBD2, MBD3, MEIS1, MYBL2, NANOG, NOBOX, NONO, NR0B1, NR2C1, NR2C2, NR2F1, NR2F2, NR2F6, NR5A1, NR5A2, NR6A1, PAX6, PCGF1, POU3F4, POU5F1
miRNA regulators (miRDB)
15 targeting POU5F1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-335-5P | 97.10 | 68.12 | 1022 |
| HSA-MIR-4654 | 95.86 | 65.72 | 751 |
| HSA-MIR-4769-5P | 95.37 | 66.09 | 570 |
Literature-anchored findings (GeneRIF, showing 40)
- FGF4 is upregulated by the OCT3 transcription factor in breast cancer cells. (PMID:12841847)
- Oct4 can dimerize onto DNA in a distinct conformational arrangement. (PMID:12923055)
- Normal pattern of expression is disturbed in dysgenetic gonads, especially in rare intersex cases, thus increasing risk of malignant transformation. High abundance of OCT-3/4 in carcinoma in situ is consistent with early fetal origin and pluripotency. (PMID:15105401)
- Oct4 is required to maintain the undifferentiated stem cell state, and differentiation to trophectoderm occurs in its absence. (PMID:15342930)
- expression of Oct-4 indicates a pluripotent phenotype of CD133(+) cells and appears to be of functional relevance (PMID:15467907)
- Adult stem cells maintain expression of Oct4, consistent with the stem cell hypothesis of carcinogenesis. (PMID:15513931)
- demonstrated changes in DNA methylation in the promoter regions of Nanog and Oct-4 in a human cell line during retinoic acid-induced differentiation (PMID:15615706)
- The Oct4 is an important marker of the undifferentiated state and a central regulator of pluripotency in ES cells. (PMID:15625129)
- Oct-4 mRNA and protein expression during human preimplantation development was studied. (PMID:15695770)
- Gene knockdown of Oct4 promotes differentiation, thereby demonstrating a role for these factors in human embryonic stem cell self-renewal. (PMID:15749924)
- MAPCs express the OCT4 and REX1 transcription factors, two specific markers of undifferentiated embryonic stem (ES) cells. (PMID:15790780)
- Oct-4-mediated transactivation is stimulated by EWS (PMID:15917470)
- The hOct4 promoter upstream region contains multiple regulatory elements, one of which, the GC box, may be an important cis-regulatory element that regulates the transcription of the hOct4 promoter by the binding of Sp family transcription factors. (PMID:16149048)
- The Oct4 protein co-occupy a substantial portion of its target genes, and collaborate to form regulatory circuitry consisting of autoregulatory and feedforward loops. (PMID:16153702)
- results suggest that pseudogenes Oct4-pg5 and Oct4-pg1 may be involved in the regulation of Oct4 gene activity thus might be pertinent to carcinogenesis (PMID:16229821)
- Most stem cell marker Oct-4-expressing cells can be seen in the endometrium at the beginning or middle of the menstrual cycle, mainly in stromal cells. (PMID:16421218)
- data suggest that loss of Oct-3/4 expression leads to induction of a higher apoptotic threshold and to cisplatin resistance in embryonal carcinoma cells of nonseminomatous testicular germ cell tumors (PMID:16557044)
- Expression of POU5F1 isoform A and POU5F1_isoform B was examined in hESCs and all stages of human preimplantation development to look for differences in expression, biological activity, and relation to totipotency. (PMID:16916925)
- DNA binding, transactivation, and abilities to confer self-renewal of the human OCT-4 isoforms differ (PMID:16951404)
- RNA interference-mediated suppression of OCT4 function in a human ESC line and analysis of the resulting transcriptional profiles to identify OCT4-dependent genes in human cells. (PMID:17068183)
- Isolation from cord blood a population of human cells that are similar to murine bone marrow-derived cells containing OCT4. (PMID:17136117)
- OCT-4, an embryonic stem cell marker, is highly expressed in bladder cancer (PMID:17205510)
- Data show that Oct-4, Rex-1, and Gata-4 expression in human mesenchymal stem cells increases cell differentiation efficiency but not hTERT expression. (PMID:17211834)
- These data indicate that SF-1 plays a crucial role in the regulation of hOct4 transcription through direct binding to the 1st SF-1 in Conserved Regions 1 of the hOct4 proximal promoter. (PMID:17226773)
- POU5F1 and POU2F subfamily members play a pivotal role for the FZD5 expression in undifferentiated human ES cells, fetal liver/spleen, adult colon, pancreatic islet, and diffuse-type gastric cancer (PMID:17273778)
- genetic association study shows that only a haplotype containing Cw*0602 is strongly associated with psoriasis vulgaris in Chinese; POU5F1 gene is unlikely to be the disease gene at PSORS1 locus (PMID:17314032)
- reprogramming of DNA methylation and histone modifications on regulatory regions of the developmentally regulated OCT4 and NANOG genes (PMID:17314394)
- Human peripheral blood mononuclear cells, genetically stable and mainly terminally differentiated cells with well defined functions and a limited lifespan, express Oct-4. (PMID:17379765)
- WNT8B expression in hepatocyte progenitors derived from human ES cells is due to POU5F1 (OCT3/OCT4) and GATA3, and WNT8B expression in diffuse-type gastric cancer is due to POU5F1 and GATA6 (PMID:17390031)
- Stem cell marker expressed in dental pulp stem cells from 5-7 year olds. (PMID:17409736)
- Our results suggest that an immunohistochemical panel consisting of TTF-1, CEA, CA-125, and OCT-4 is helpful in distinguishing most pulmonary and ovarian carcinomas with clear cell features. (PMID:17413979)
- RNAi-mediated silencing of OCT4 induced differentiation with mesodermal characteristics in EC cells (PMID:17506876)
- sumoylation of Oct4 results in increased stability, DNA binding, and transactivation and provides an important mechanism to regulate Oct4 activity (PMID:17525163)
- Differential methylation of the OCT3/4 upstream region is associated with primary testicular germ cell tumors (PMID:17549357)
- In pluripotent human embryonic stem cells (unlike differentiated hES) Oct4 genes were located on greatly extended chromatin loops, outside their respective chromosome sites, suggesting role in pluripotency of hES. (PMID:17573914)
- possible role of the OCT-4 protein in seminomas (PMID:17682839)
- OCT4 targets similiar genes in mesenchmal and embryonic stem cells and promotes the expression of specific genes and cell cycle progession in each type of cell. (PMID:17761754)
- SARS-infected lung cells express the stem/progenitor cell markers CD34 and Oct-4. (PMID:17923501)
- Both upregulation and downregulation of Oct4 in human embryonic stem cells results in differentiation, but with patterns distinct from parallel experiments in mice. (PMID:17959850)
- OCT4 expression in the cervical carcinoma cell line HeLa and the breast cancer cell line MCF7 was determined in comparison with the human teratoma cell line nTera. (PMID:18032701)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pou3f1 | ENSDARG00000009823 |
| danio_rerio | pou5f3 | ENSDARG00000044774 |
| mus_musculus | Pou5f1 | ENSMUSG00000024406 |
| rattus_norvegicus | Pou5f1 | ENSRNOG00000046487 |
| drosophila_melanogaster | acj6 | FBGN0000028 |
| drosophila_melanogaster | vvl | FBGN0086680 |
| caenorhabditis_elegans | WBGENE00000441 | |
| caenorhabditis_elegans | WBGENE00006818 |
Paralogs (17): POU2F2 (ENSG00000028277), POU1F1 (ENSG00000064835), POU4F3 (ENSG00000091010), POU6F2 (ENSG00000106536), POU2F3 (ENSG00000137709), POU2F1 (ENSG00000143190), POU4F2 (ENSG00000151615), POU4F1 (ENSG00000152192), HDX (ENSG00000165259), POU6F1 (ENSG00000184271), POU3F2 (ENSG00000184486), POU3F1 (ENSG00000185668), POU3F4 (ENSG00000196767), POU3F3 (ENSG00000198914), CCDC160 (ENSG00000203952), POU5F1B (ENSG00000212993), POU5F2 (ENSG00000248483)
Protein
Protein identifiers
POU domain, class 5, transcription factor 1 — Q01860 (reviewed: Q01860)
Alternative names: Octamer-binding protein 3, Octamer-binding protein 4, Octamer-binding transcription factor 3
All UniProt accessions (4): D2IYK3, Q01860, F2Z381, M1S623
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’). Forms a trimeric complex with SOX2 or SOX15 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 / interactions. Interacts with PKM. Interacts with WWP2. Interacts with UBE2I and ZSCAN10. Interacts with PCGF1. Interacts with ESRRB; recruits ESRRB near the POU5F1-SOX2 element in the NANOG proximal promoter; the interaction is DNA independent. Interacts with ZNF322. Interacts with MAPK8 and MAPK9; the interaction allows MAPK8 and MAPK9 to phosphorylate POU5F1 on Ser-355. Interacts (when phosphorylated on Ser-355) with FBXW8. Interacts with FBXW4. Interacts with SOX2 and SOX15; binds synergistically with either SOX2 or SOX15 to DNA. Interacts with DDX56. Interacts with ZNF143; promoting POU5F1/OCT4 association with promoters.
Subcellular location. Cytoplasm. Nucleus.
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.
Post-translational modifications. Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression. Ubiquitinated; undergoes ‘Lys-63’-linked polyubiquitination by WWP2 leading to proteasomal degradation. 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.
Domain organisation. The POU-specific domain mediates interaction with PKM. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Induction. Transcriptional activity is positively regulated by PKM. Upon cell differentiation, expression is repressed by NR6A1.
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.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q01860-1 | A, Oct-3A, Oct3A | yes |
| Q01860-2 | B, Oct-3B, Oct3B |
RefSeq proteins (4): NP_001167002, NP_001272915, NP_002692, NP_976034 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000327 | POU_dom | Domain |
| IPR001356 | HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR010982 | Lambda_DNA-bd_dom_sf | Homologous_superfamily |
| IPR013847 | POU | Domain |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR050255 | POU_domain_TF | Family |
Pfam: PF00046, PF00157
UniProt features (38 total): helix 8, sequence conflict 7, modified residue 6, sequence variant 4, region of interest 4, binding site 2, chain 1, domain 1, cross-link 1, splice variant 1, DNA-binding region 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
16 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8G88 | ELECTRON MICROSCOPY | 2.3 |
| 7U0G | ELECTRON MICROSCOPY | 2.6 |
| 7U0I | ELECTRON MICROSCOPY | 2.6 |
| 8SPU | ELECTRON MICROSCOPY | 2.8 |
| 8SPS | ELECTRON MICROSCOPY | 3 |
| 6T90 | ELECTRON MICROSCOPY | 3.05 |
| 8G8G | ELECTRON MICROSCOPY | 3.2 |
| 8OTS | ELECTRON MICROSCOPY | 3.3 |
| 6YOV | ELECTRON MICROSCOPY | 3.42 |
| 9RL4 | ELECTRON MICROSCOPY | 3.5 |
| 8G8E | ELECTRON MICROSCOPY | 3.9 |
| 9RN2 | ELECTRON MICROSCOPY | 4.1 |
| 9RMC | ELECTRON MICROSCOPY | 4.2 |
| 8G8B | ELECTRON MICROSCOPY | 4.3 |
| 9RN1 | ELECTRON MICROSCOPY | 5.9 |
| 8G87 | ELECTRON MICROSCOPY | 8.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01860-F1 | 66.31 | 0.33 |
Antibody-complex structures (SAbDab): 4 — 7U0G, 7U0I, 8SPS, 8SPU
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 157; 164
Post-translational modifications (7): 111, 235, 236, 289, 290, 355, 123
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-2892245 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation |
| R-HSA-2892247 | POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation |
| R-HSA-452723 | Transcriptional regulation of pluripotent stem cells |
| R-HSA-9754189 | Germ layer formation at gastrulation |
| R-HSA-9823739 | Formation of the anterior neural plate |
| R-HSA-9827857 | Specification of primordial germ cells |
| R-HSA-9834899 | Specification of the neural plate border |
MSigDB gene sets: 189 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_FGF3, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_DEVELOPMENTAL_INDUCTION, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GGGTGGRR_PAX4_03, GOBP_CELL_CELL_SIGNALING, COUP_01, GOBP_ASYMMETRIC_CELL_DIVISION, SMITH_TERT_TARGETS_DN, MUELLER_PLURINET, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT
GO Biological Process (20): negative regulation of transcription by RNA polymerase II (GO:0000122), endodermal cell fate specification (GO:0001714), blastocyst development (GO:0001824), heart induction (GO:0003129), endodermal-mesodermal cell signaling (GO:0003133), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), response to wounding (GO:0009611), anatomical structure morphogenesis (GO:0009653), regulation of asymmetric cell division (GO:0009786), regulation of gene expression (GO:0010468), BMP signaling pathway (GO:0030509), somatic stem cell population maintenance (GO:0035019), positive regulation of transcription by RNA polymerase II (GO:0045944), cell fate commitment involved in formation of primary germ layer (GO:0060795), cardiac cell fate determination (GO:0060913), positive regulation of canonical Wnt signaling pathway (GO:0090263), negative regulation of miRNA transcription (GO:1902894), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629)
GO Molecular Function (15): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), RNA binding (GO:0003723), ubiquitin protein ligase binding (GO:0031625), miRNA binding (GO:0035198), sequence-specific DNA binding (GO:0043565), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), sequence-specific double-stranded DNA binding (GO:1990837), cis-regulatory region sequence-specific DNA binding (GO:0000987), protein binding (GO:0005515), cytokine binding (GO:0019955)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), chromatin (GO:0000785)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Gastrulation | 3 |
| Transcriptional regulation of pluripotent stem cells | 2 |
| Developmental Biology | 1 |
| Reproduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| regulation of gene expression | 3 |
| gene expression | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| negative regulation of DNA-templated transcription | 2 |
| anatomical structure development | 2 |
| regulation of DNA-templated transcription | 2 |
| nucleic acid binding | 2 |
| transcription cis-regulatory region binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| cell fate specification | 1 |
| endodermal cell fate commitment | 1 |
| in utero embryonic development | 1 |
| organ induction | 1 |
| heart field specification | 1 |
| regulation of heart morphogenesis | 1 |
| cell-cell signaling | 1 |
| DNA-templated transcription | 1 |
| regulation of RNA biosynthetic process | 1 |
| response to stress | 1 |
| developmental process | 1 |
| asymmetric cell division | 1 |
| regulation of cell division | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| cellular response to BMP stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| stem cell population maintenance | 1 |
| positive regulation of DNA-templated transcription | 1 |
| formation of primary germ layer | 1 |
| cell fate commitment | 1 |
| cell fate determination | 1 |
| cardiac cell fate commitment | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| miRNA transcription | 1 |
| regulation of miRNA transcription | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
50 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WWP2 | POU5F1 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| POU5F1 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.650 |
| POU5F1 | WWP2 | psi-mi:“MI:0220”(ubiquitination reaction) | 0.650 |
| Hmgb1 | POU5F1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| POU5F1 | Hmgb1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| POU5F1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SOX2 | POU5F1 | psi-mi:“MI:0914”(association) | 0.560 |
| POU5F1 | psi-mi:“MI:0914”(association) | 0.560 | |
| POU5F1 | SOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POU5F1 | psi-mi:“MI:0914”(association) | 0.560 | |
| POU5F1 | NANOG | psi-mi:“MI:0915”(physical association) | 0.520 |
| FOXD3 | POU5F1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| POU5F1 | FOXD3 | psi-mi:“MI:0915”(physical association) | 0.520 |
| POU5F1 | psi-mi:“MI:0915”(physical association) | 0.520 | |
| E1A | POU5F1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| MBD3 | KLF4 | psi-mi:“MI:0914”(association) | 0.500 |
| MBD3 | POU5F1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| KPNA2 | POU5F1 | psi-mi:“MI:0914”(association) | 0.460 |
| L1TD1 | PARP1 | psi-mi:“MI:0914”(association) | 0.460 |
| POU5F1 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GMNN | POU5F1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (386): POU5F1 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western), POU5F1 (Affinity Capture-Western), DTYMK (Affinity Capture-MS), ABCF1 (Affinity Capture-MS), ACACB (Affinity Capture-MS), ACOT9 (Affinity Capture-MS), ANAPC4 (Affinity Capture-MS), ANGEL2 (Affinity Capture-MS), AP3D1 (Affinity Capture-MS), API5 (Affinity Capture-MS), ARID1B (Affinity Capture-MS), ARMCX1 (Affinity Capture-MS), ATG101 (Affinity Capture-MS), ATP5A1 (Affinity Capture-MS)
ESM2 similar proteins: A1YER7, A1YF08, A1YFY3, A1YG85, A2T6X6, A2T756, A7Y7W2, O02786, O42230, O43711, O55144, O57601, O93367, O97552, P13297, P20263, P28360, P31277, P36402, P42582, P50223, P52945, P52946, P52947, P70118, P70354, P79772, Q01860, Q06416, Q12952, Q14549, Q2VL76, Q2VL77, Q2VL78, Q2VL79, Q2VL80, Q2VL82, Q2VL83, Q2VL84, Q2VL85
Diamond homologs: A0A1L8FFY5, A1L0Z1, A7Y7W2, B3DM23, B3DM25, B7ZQA9, D3ZTL1, G3V7L5, O97552, P09086, P10036, P10037, P13528, P14859, P15143, P16143, P16241, P17208, P20263, P20264, P20265, P20266, P20267, P20268, P20912, P20913, P20914, P21952, P24350, P25425, P28069, P31360, P31361, P31362, P31363, P31364, P31365, P31367, P31368, P31369
SIGNOR signaling
55 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK1 | down-regulates | POU5F1 | phosphorylation |
| MAPK3 | down-regulates | POU5F1 | phosphorylation |
| ETV4 | “up-regulates quantity by expression” | POU5F1 | “transcriptional regulation” |
| POU5F1 | up-regulates | Pluripotency | |
| AKT | “up-regulates quantity by stabilization” | POU5F1 | phosphorylation |
| AKT2 | “up-regulates quantity by stabilization” | POU5F1 | phosphorylation |
| POU5F1 | “down-regulates quantity by repression” | AKT | “transcriptional regulation” |
| AKT3 | “up-regulates quantity by stabilization” | POU5F1 | phosphorylation |
| AKT1 | “up-regulates quantity by stabilization” | POU5F1 | phosphorylation |
| POU5F1 | “down-regulates quantity by repression” | AKT1 | “transcriptional regulation” |
| POU5F1 | “up-regulates quantity by expression” | DNMT1 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | GATA6 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | GATA4 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | PAX6 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | FOXA2 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | SOX17 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | TBXT | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | EOMES | “transcriptional regulation” |
| POU5F1 | “up-regulates quantity by expression” | THY1 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | BMP4 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | CDX2 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | DKK1 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | DLX5 | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | HLX | “transcriptional regulation” |
| POU5F1 | “down-regulates quantity by repression” | ID2 | “transcriptional regulation” |
| POU5F1 | “up-regulates quantity by expression” | LEFTY1 | “transcriptional regulation” |
| POU5F1 | “up-regulates quantity by expression” | NANOG | “transcriptional regulation” |
| POU5F1 | “up-regulates quantity by expression” | LEFTY2 | “transcriptional regulation” |
| POU5F1 | “up-regulates quantity by expression” | DPPA4 | “transcriptional regulation” |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
863 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:31164864:CCAC:C | acceptor_gain | 1.0000 |
| 6:31164865:CAC:C | acceptor_gain | 1.0000 |
| 6:31164865:CACC:C | acceptor_gain | 1.0000 |
| 6:31164867:CCT:C | acceptor_loss | 1.0000 |
| 6:31164868:C:CC | acceptor_gain | 1.0000 |
| 6:31164874:G:C | acceptor_gain | 1.0000 |
| 6:31165123:CTCA:C | donor_loss | 1.0000 |
| 6:31165124:TCACA:T | donor_loss | 1.0000 |
| 6:31165125:CACAT:C | donor_loss | 1.0000 |
| 6:31165126:A:AC | donor_gain | 1.0000 |
| 6:31165126:ACAT:A | donor_gain | 1.0000 |
| 6:31165126:ACATC:A | donor_gain | 1.0000 |
| 6:31165127:C:CG | donor_gain | 1.0000 |
| 6:31165127:CAT:C | donor_gain | 1.0000 |
| 6:31165127:CATC:C | donor_gain | 1.0000 |
| 6:31165127:CATCC:C | donor_gain | 1.0000 |
| 6:31165129:T:TA | donor_gain | 1.0000 |
| 6:31165282:CATAT:C | acceptor_gain | 1.0000 |
| 6:31165565:CCTTA:C | donor_loss | 1.0000 |
| 6:31165566:CTTAC:C | donor_loss | 1.0000 |
| 6:31165567:TTA:T | donor_loss | 1.0000 |
| 6:31165568:TA:T | donor_loss | 1.0000 |
| 6:31165569:A:T | donor_loss | 1.0000 |
| 6:31165569:ACCT:A | donor_gain | 1.0000 |
| 6:31165570:C:A | donor_loss | 1.0000 |
| 6:31165570:CCTC:C | donor_gain | 1.0000 |
| 6:31165572:T:TA | donor_gain | 1.0000 |
| 6:31165599:T:TA | donor_gain | 1.0000 |
| 6:31165699:TCC:T | acceptor_gain | 1.0000 |
| 6:31165700:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
2311 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:31164835:C:A | Q283H | 1.000 |
| 6:31164835:C:G | Q283H | 1.000 |
| 6:31164840:G:T | R282S | 1.000 |
| 6:31164844:G:C | N280K | 1.000 |
| 6:31164844:G:T | N280K | 1.000 |
| 6:31164846:T:C | N280D | 1.000 |
| 6:31164847:A:C | C279W | 1.000 |
| 6:31164848:C:T | C279Y | 1.000 |
| 6:31164849:A:G | C279R | 1.000 |
| 6:31164850:G:C | F278L | 1.000 |
| 6:31164850:G:T | F278L | 1.000 |
| 6:31164851:A:C | F278C | 1.000 |
| 6:31164851:A:G | F278S | 1.000 |
| 6:31164852:A:C | F278V | 1.000 |
| 6:31164852:A:G | F278L | 1.000 |
| 6:31164852:A:T | F278I | 1.000 |
| 6:31164853:C:A | W277C | 1.000 |
| 6:31164853:C:G | W277C | 1.000 |
| 6:31164855:A:G | W277R | 1.000 |
| 6:31164855:A:T | W277R | 1.000 |
| 6:31164857:A:G | V276A | 1.000 |
| 6:31164863:A:T | V274D | 1.000 |
| 6:31165153:G:T | A264D | 1.000 |
| 6:31165180:G:T | P255H | 1.000 |
| 6:31165181:G:A | P255S | 1.000 |
| 6:31165181:G:T | P255T | 1.000 |
| 6:31165197:G:C | F249L | 1.000 |
| 6:31165197:G:T | F249L | 1.000 |
| 6:31165199:A:G | F249L | 1.000 |
| 6:31165210:A:G | L245P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000615578 (6:31164140 A>G), RS1001282425 (6:31167846 G>A,C,T), RS1001547868 (6:31165347 C>G,T), RS1001781252 (6:31172372 TG>T), RS1002148625 (6:31172617 AG>A), RS1002211292 (6:31166434 G>A), RS1002424092 (6:31172567 C>T), RS1003781537 (6:31169293 T>C,G), RS1004473699 (6:31167283 T>C), RS1004566652 (6:31169432 T>A), RS1004903094 (6:31172587 G>A), RS1004967395 (6:31167375 C>A), RS1005156071 (6:31167769 G>T), RS1005691978 (6:31170969 T>C), RS1006234562 (6:31169039 A>G)
Disease associations
OMIM: gene MIM:164177 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| primary ovarian failure | Limited | Autosomal dominant |
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
53 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001181_4 | Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) | 2.000000e-08 |
| GCST001181_5 | Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) | 8.000000e-07 |
| GCST001181_6 | Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) | 3.000000e-08 |
| GCST001239_1 | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | 2.000000e-08 |
| GCST002140_3 | Multiple myeloma | 1.000000e-10 |
| GCST002352_17 | Type 2 diabetes | 4.000000e-09 |
| GCST003542_141 | Night sleep phenotypes | 5.000000e-06 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_103 | Autism spectrum disorder or schizophrenia | 2.000000e-08 |
| GCST004521_107 | Autism spectrum disorder or schizophrenia | 2.000000e-08 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_124 | Autism spectrum disorder or schizophrenia | 3.000000e-12 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_132 | Autism spectrum disorder or schizophrenia | 2.000000e-09 |
| GCST004521_16 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_167 | Autism spectrum disorder or schizophrenia | 4.000000e-16 |
| GCST004521_19 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_210 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_229 | Autism spectrum disorder or schizophrenia | 4.000000e-11 |
| GCST004521_257 | Autism spectrum disorder or schizophrenia | 6.000000e-10 |
| GCST004521_265 | Autism spectrum disorder or schizophrenia | 7.000000e-14 |
| GCST004521_27 | Autism spectrum disorder or schizophrenia | 1.000000e-09 |
| GCST004521_282 | Autism spectrum disorder or schizophrenia | 5.000000e-09 |
| GCST004521_295 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_3 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004587 | lymphocyte count |
| EFO:0008402 | susceptibility to cold sores measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3580526 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 66,828 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL902 | FAMOTIDINE | 4 | 66,828 |
Clinical evidence (CIViC)
Drug × variant × indication: 1 predictive associations from 1 curated evidence items.
| Variant | Therapy | Indication | Effect | Level | CIViC |
|---|---|---|---|---|---|
| POU5F1 EXPRESSION | Oxaliplatin | Colon Cancer | Resistance | CIViC D | EID958 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs3130501 | Toxicity | 3 | allopurinol | Severe Cutaneous Adverse Reactions;Stevens-Johnson Syndrome;Toxic Epidermal Necrolysis |
| rs3130931 | Toxicity | 3 | allopurinol | Severe Cutaneous Adverse Reactions;Stevens-Johnson Syndrome;Toxic Epidermal Necrolysis |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3130501 | POU5F1 | 3 | 0.00 | 1 | allopurinol |
| rs3130931 | POU5F1, TCF19 | 3 | 0.00 | 1 | allopurinol |
Binding affinities (BindingDB)
3 measured of 3 human assays (3 total across all organisms); most potent 3 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| N-[2-[(2-fluorophenyl)methylsulfanyl]ethyl]-7-methyl-2,3-dihydroimidazo[1,2-a]pyridine-2-carboxamide | IC50 | 8200 nM | US-10149840: OCT3 activity inhibitor containing imidazopyridine derivative as active component, and OCT3 detection agent |
| 2-[[1-(2-ethoxyphenyl)tetrazol-5-yl]sulfanylmethyl]-6-methylimidazo[1,2-a]pyridine | IC50 | 25300 nM | US-10149840: OCT3 activity inhibitor containing imidazopyridine derivative as active component, and OCT3 detection agent |
| CHEBI:4975 | IC50 | 67600 nM | US-10149840: OCT3 activity inhibitor containing imidazopyridine derivative as active component, and OCT3 detection agent |
ChEMBL bioactivities
1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.09 | IC50 | 8200 | nM | CHEMBL5797734 |
CTD chemical–gene interactions
151 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, decreases reaction, affects expression, increases expression, increases reaction (+2 more) | 9 |
| Cisplatin | affects cotreatment, increases expression, decreases response to substance, affects expression, affects response to substance | 7 |
| Tretinoin | affects expression, decreases expression | 7 |
| Valproic Acid | affects cotreatment, decreases expression, decreases reaction, increases expression | 7 |
| bisphenol A | affects binding, decreases reaction, affects expression, affects reaction, affects cotreatment (+3 more) | 5 |
| Estradiol | affects cotreatment, increases expression, affects binding, increases reaction, decreases reaction | 5 |
| Arsenic Trioxide | increases expression, increases reaction, decreases expression, affects reaction | 4 |
| methylmercuric chloride | increases expression | 3 |
| trichostatin A | affects expression, increases reaction, increases expression | 3 |
| diallyl trisulfide | increases expression, decreases expression, increases abundance | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases reaction, affects cotreatment, decreases expression, increases reaction | 3 |
| Chir 99021 | affects cotreatment, decreases expression, affects binding, increases expression | 3 |
| bisphenol S | affects cotreatment, increases expression, decreases expression | 3 |
| LDN 193189 | affects cotreatment, decreases expression, increases reaction, decreases reaction | 3 |
| Resveratrol | decreases expression, affects cotreatment | 3 |
| Acetylcysteine | decreases expression, decreases reaction | 3 |
| Arsenic | affects methylation, affects cotreatment, increases expression | 3 |
| Ascorbic Acid | affects binding, affects cotreatment, decreases expression, decreases reaction, increases expression | 3 |
| Lithium Chloride | decreases expression, decreases reaction, affects reaction, increases expression, increases reaction | 3 |
| Particulate Matter | decreases expression, decreases reaction, increases expression | 3 |
| kaempferol | affects cotreatment, decreases expression | 2 |
| nickel chloride | increases expression, increases reaction, increases stability | 2 |
| ovatodiolide | decreases reaction, decreases expression | 2 |
| XAV939 | affects cotreatment, decreases expression, decreases reaction, increases expression, affects binding | 2 |
| (+)-JQ1 compound | affects binding, decreases reaction, decreases expression | 2 |
| Ethanol | decreases expression, increases expression, decreases reaction | 2 |
| Benzo(a)pyrene | affects cotreatment, increases expression, increases reaction, increases methylation | 2 |
| Diethylhexyl Phthalate | affects cotreatment, decreases expression, decreases reaction, increases expression | 2 |
| Oxygen | decreases expression, increases expression | 2 |
| Paraquat | affects expression, affects reaction, increases expression | 2 |
ChEMBL screening assays
36 unique, capped per target: 36 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3583934 | Binding | Activation of human Oct3/4 in HEK293 cells transfected with firefly luciferase gene assessed as luciferase signal by luminometer plate reader relative to DMSO control | Identification of 2-[4-[(4-Methoxyphenyl)methoxy]-phenyl]acetonitrile and Derivatives as Potent Oct3/4 Inducers. — J Med Chem |
Cellosaurus cell lines
7 cell lines: 4 cancer cell line, 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A5N1 | SEES3-1V human POU5F1, clone1 | Embryonic stem cell | Male |
| CVCL_A5N2 | SEES3-1V human POU5F1, clone2 | Embryonic stem cell | Male |
| CVCL_A5N3 | SEES3-1V human POU5F1, clone3 | Embryonic stem cell | Male |
| CVCL_B8MU | Abcam HCT 116 POU5F1 KO | Cancer cell line | Male |
| CVCL_B9AH | Abcam MCF-7 POU5F1 KO | Cancer cell line | Female |
| CVCL_B9Q3 | Abcam A-549 POU5F1 KO | Cancer cell line | Male |
| CVCL_C3GF | GBS6 | Cancer cell line | Female |
Clinical trials (associated diseases)
75 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
- Associated diseases: primary ovarian failure, malignant colon neoplasm
- Biomarker drugs (CIViC) (drugs whose response is associated with variants in this gene — CIViC predictive evidence, not targeting): Oxaliplatin
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): colon carcinoma, Epstein-Barr virus infection, malignant colon neoplasm, primary ovarian failure, Stevens-Johnson syndrome, toxic epidermal necrolysis