Recombinant Human Neuronal PAS domain-containing protein 3 (NPAS3), partial

1. Study provides a clear, unbiased view of the full spectrum of genes regulated by NPAS1 and NPAS3 and shows that these transcription factors are master regulators of neuropsychiatric function. These findings expose the molecular pathophysiology of NPAS1/3 mutations and provide a striking example of the shared, combinatorial nature of molecular pathways that underlie diagnostically distinct neuropsychiatric conditions. PMID: 28499489
2. Here the authors examined the crystal structures of multi-domain NPAS1-ARNT and NPAS3-ARNT-DNA complexes, discovering each to contain four putative ligand-binding pockets. PMID: 27782878
3. Authors hypothesize that any nucleotide variant at the NPAS3 HAEs may lead to altered susceptibility to schizophrenia. PMID: 25982957
4. Identification of NPAS3-V304I helps strengthen the hypothesis that NPAS3 is involved in schizophrenia pathogenesis PMID: 23337948
5. The accelerated non-coding region 2xHAR142 of NPAS3 behaves as a developmental enhancer in the forebrain of transgenic mice. PMID: 24218632
6. Results indicate that the high density of HAEs present in the human NPAS3 locus could have modified the spatiotemporal expression pattern of NPAS3 in the developing human brain and, therefore, contributed to human brain evolution. PMID: 23408798
7. During human postnatal cortical development, there was decreased NPAS3 mRNA yet increased NPAS3 protein expression, suggesting the involvement of posttranscriptional regulation, which results show is modified by miR-17. PMID: 22228753
8. In a HEK293 cell line over-expressing NPAS3, transcriptional targets varied with to circadian rhythm context & C-terminal deletion. NPAS3 contributes to neurodevelopmental transcription factor networks & the regulation of brain glucose metabolism. PMID: 21709683
9. Loss of NPAS3 is associated with the progression of Astrocytomas. PMID: 21703424
10. report of immunohistochemical findings on NPAS3 protein expression in the developing human fetal brain during the three trimesters (10-41 weeks) of gestational development PMID: 21306425
11. This study identification of potentially defective NPAS3 variants supports recent studies that implicate perturbations in NPAS3 pathways in impaired neurogenesis and psychosis. PMID: 20466522
12. haploinsufficiency of NPAS3 contributes to the cause of schizophrenia PMID: 12746393
13. This study demonstrated that these risk and protective effects act combinatorially, potentially multiplicatively, to determine NPAS3 gene-wide susceptibility in bipolar disorder and schizophrenia. PMID: 18317462
14. Genome-wide association study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 18195134
15. Clinical trial of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 19573479

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HGNC: 19311

OMIM: 609430

KEGG: hsa:64067

STRING: 9606.ENSP00000348460

UniGene: Hs.657892