Aliases for POU5F1 Gene
External Ids for POU5F1 Gene
Previous HGNC Symbols for POU5F1 Gene
Previous GeneCards Identifiers 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]
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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is POU5F1B.
UniProtKB/Swiss-Prot Summary for POU5F1 Gene
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.