Aliases for POU4F1 Gene
External Ids for POU4F1 Gene
Previous HGNC Symbols for POU4F1 Gene
Previous GeneCards Identifiers for POU4F1 Gene
This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]
GeneCards Summary for POU4F1 Gene
POU4F1 (POU Class 4 Homeobox 1) is a Protein Coding gene. Diseases associated with POU4F1 include Ischemic Neuropathy and Nonarteritic Anterior Ischemic Optic Neuropathy. Among its related pathways are MECP2 and Associated Rett Syndrome and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is POU4F2.
UniProtKB/Swiss-Prot Summary for POU4F1 Gene
Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site.
[Isoform 2]: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells.