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 |
|---|---|---|---|---|---|
OMIM IDMIM:164177 Ensembl IDEnsembl:ENSG00000204531 HGNC IDHGNC:HGNC:9221 PHARMGKB IDPA33545 Map Location6p21.33 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POU5F1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.