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NPAS3

Protein-coding gene in the species Homo sapiens

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NPAS3
Identifiers
Aliases	NPAS3, neuronal PAS domain protein 3, MOP6, PASD6, bHLHe12
External IDs	OMIM: 609430; MGI: 1351610; HomoloGene: 8461; GeneCards: NPAS3; OMA:NPAS3 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q13.1 Start 32,934,396 bp[1] End 33,820,863 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C1 Start 53,248,677 bp[2] End 54,072,175 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell ventricular zone corpus callosum buccal mucosa cell globus pallidus internal globus pallidus external globus pallidus optic nerve inferior ganglion of vagus nerve entorhinal cortex Top expressed in substantia nigra lumbar subsegment of spinal cord deep cerebellar nuclei dorsal tegmental nucleus fossa globus pallidus dorsomedial hypothalamic nucleus ventral tegmental area condyle lateral hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function protein dimerization activity DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific protein heterodimerization activity Cellular component nucleoplasm cytosol nucleus Biological process regulation of transcription by RNA polymerase II positive regulation of transcription, DNA-templated transcription, DNA-templated regulation of transcription, DNA-templated developmental process positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64067 27386 Ensembl ENSG00000151322 ENSMUSG00000021010 UniProt Q8IXF0 Q9QZQ0 RefSeq (mRNA) NM_001164749 NM_001165893 NM_022123 NM_173159 NM_001394988 NM_001394989 NM_013780 RefSeq (protein) NP_001158221 NP_001159365 NP_071406 NP_775182 NP_038808 Location (UCSC) Chr 14: 32.93 – 33.82 Mb Chr 12: 53.25 – 54.07 Mb PubMed search [3] [4]
Wikidata
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NPAS3orNeuronal PAS domain protein 3 is a brain-enriched transcription factor belonging to the bHLH-PAS superfamily of transcription factors, the members of which carry out diverse functions, including circadian oscillations, neurogenesis, toxin metabolism, hypoxia, and tracheal development. NPAS3 contains basic helix-loop-helix structural motif and PAS domain, like the other proteins in the superfamily.

Function[edit]

NPAS3 is also known as human accelerated region 21. It may, therefore, have played a key role in differentiating humans from apes.^[5]

NPAS1 and NPAS3-deficient mice display behavioral abnormalities typical to the animal modelsofschizophrenia.^[6]

According to the same study, NPAS1 and NPAS3 disruption leads to reduced expression of reelin, which is also consistently found to be reduced in the brains of human patients with schizophrenia and psychotic bipolar disorder. Among the 49 genomic regions that undergone rapid changes in humans compared with their evolutionary ancestors, NPAS3 was found to be located in the region 21.^[5]

Clinical significance[edit]

Disruption of NPAS3 was found in one family affected by schizophrenia^[7] and NPAS3 gene is thought to be associated with psychiatric illness and learning disability.^[8][9] In a genetic study of several hundred subjects conducted in 2008, interacting haplotypes at the NPAS3 locus were found to affect the risk of schizophrenia and bipolar disorder.^[10]

In a pharmacogenetical study, polymorphisms in NPAS3 gene were highly associated with response to iloperidone, a proposed atypical antipsychotic.^[11]

References[edit]

Further reading[edit]

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