POU4F1

BRN3A (POU4F1) is a class IV POU domain-containing transcription factor highly expressed in the developing sensory nervous system and in cells of the B- and T-lymphocytic lineages (Gerrero et al., 1993 [PubMed 8248179]).[supplied by OMIM

POU class 4 homeobox 1

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.

AxonogenesisManual Assertion Based On ExperimentTAS:BHF-UCL
Cell migration in hindbrainIEA:Ensembl
Cellular response to cytokine stimulusISS:UniProtKB
Cellular response to estradiol stimulusISS:UniProtKB
Central nervous system neuron differentiationIEA:Ensembl
Habenula developmentIEA:Ensembl
Heart developmentISS:ARUK-UCL
InnervationManual Assertion Based On ExperimentTAS:BHF-UCL
Intrinsic apoptotic signaling pathway by p53 class mediatorISS:UniProtKB
Mesoderm developmentIEA:Ensembl
Negative regulation of apoptotic processBy SimilarityISS:ARUK-UCL
Negative regulation of gene expressionISS:ARUK-UCL
Negative regulation of neuron apoptotic processISS:UniProtKB
Negative regulation of programmed cell deathISS:UniProtKB
Negative regulation of transcription by RNA polymerase IIBy SimilarityISS:BHF-UCL
Neuron apoptotic processIEA:Ensembl
Neuron fate specificationISS:BHF-UCL
Neuron migrationIEA:Ensembl
Neuron projection developmentISS:UniProtKB
Peripheral nervous system neuron developmentISS:BHF-UCL
Positive regulation of gene expressionISS:UniProtKB
Positive regulation of neuron apoptotic processIEA:Ensembl
Positive regulation of osteoclast differentiationISS:UniProtKB
Positive regulation of transcription by RNA polymerase IIBy SimilarityIDA:ParkinsonsUK-UCL
Positive regulation of transcription regulatory region DNA bindingISS:UniProtKB
Proprioception involved in equilibrioceptionIEA:Ensembl
Regulation of cell cycleISS:UniProtKB
Regulation of DNA-binding transcription factor activityISS:UniProtKB
Regulation of neurogenesisIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Sensory system developmentISS:BHF-UCL
Suckling behaviorIEA:Ensembl
Synapse assemblyManual Assertion Based On ExperimentTAS:ProtInc
Trigeminal nerve developmentISS:BHF-UCL
Ventricular compact myocardium morphogenesisIEA:Ensembl

Nucleus
Cytoplasm

Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (ATITHS):
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients.