POU5F1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| POU class 5 homeobox 1 | MIM:164177 | Ensembl:ENSG00000204531 | HGNC:HGNC:9221 | PA33545 | 6p21.33 |
GO terms in POU5F1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IC | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005829 | cytosol |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0001714 | endodermal cell fate specification |
| BP | ISS | GO:0001824 | blastocyst development |
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | ISS | GO:0006366 | transcription by RNA polymerase II |
| BP | IEP | GO:0009611 | response to wounding |
| BP | TAS | GO:0009653 | anatomical structure morphogenesis |
| BP | ISS | GO:0009786 | regulation of asymmetric cell division |
| BP | IMP | GO:0010468 | regulation of gene expression |
| BP | IDA | GO:0035019 | somatic stem cell population maintenance |
| BP | IMP | GO:0035019 | somatic stem cell population maintenance |
| BP | TAS | GO:0035019 | somatic stem cell population maintenance |
| BP | ISS | GO:0042789 | mRNA transcription by RNA polymerase II |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0060965 | negative regulation of gene silencing by miRNA |
| MF | IDA | GO:0000976 | transcription regulatory region sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001227 | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IDA | GO:0035198 | miRNA binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
Gene expression in normal tissue: POU5F1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in POU5F1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-2892245 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation |
| reactome | R-HSA-2892247 | POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation |
| reactome | R-HSA-452723 | Transcriptional regulation of pluripotent stem cells |
| wikipathways | WP2406 | Cardiac Progenitor Differentiation |
| wikipathways | WP2821 | Transcriptional regulation of pluripotent stem cells |
| wikipathways | WP2853 | Endoderm Differentiation |
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| wikipathways | WP2880 | Glucocorticoid Receptor Pathway |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP3299 | let-7 inhibition of ES cell reprogramming |
| wikipathways | WP3527 | Preimplantation Embryo |
| wikipathways | WP399 | Wnt Signaling Pathway and Pluripotency |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| pid | hif2pathway | HIF-2-alpha transcription factor network |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD368 | Oxaliplatin | 1 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD427 | ABT737 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POU5F1
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