POU5F1

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.

Full Name

POU class 5 homeobox 1

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.

Biological Process

Anatomical structure morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Blastocyst developmentISS:BHF-UCL
BMP signaling pathway involved in heart inductionIMP:BHF-UCL
Cardiac cell fate determinationIDA:BHF-UCL
Cell fate commitment involved in formation of primary germ layerIMP:BHF-UCL
Endodermal cell fate specificationManual Assertion Based On ExperimentIDA:MGI
Negative regulation of miRNA transcriptionManual Assertion Based On ExperimentIDA:ARUK-UCL
Negative regulation of miRNA-mediated gene silencingManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of canonical Wnt signaling pathwayIDA:BHF-UCL
Positive regulation of SMAD protein signal transductionIDA:BHF-UCL
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of asymmetric cell divisionISS:BHF-UCL
Regulation of DNA methylation-dependent heterochromatin assemblyIDA:BHF-UCL
Regulation of gene expressionManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of heart induction by regulation of canonical Wnt signaling pathwayIMP:BHF-UCL
Regulation of transcription by RNA polymerase IIISS:BHF-UCL
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:HGNC-UCL
Response to woundingManual Assertion Based On ExperimentIEP:UniProtKB
Somatic stem cell population maintenanceManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cytoplasm
Nucleus
Expressed in a diffuse and slightly punctuate pattern. Colocalizes with MAPK8 and MAPK9 in the nucleus.

PTM

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.

POU5F1

Anti-POU5F1 antibodies