NPAS3

From Wikipedia, the free encyclopedia

Neuronal PAS domain protein 3
Identifiers
Symbol	NPAS3 MEMBER OF PAS SUPERFAMILY 6; MOP6
HUGO	19311
Entrez	64067
OMIM	609430
RefSeq	NM_173159
UniProt	Q8IXF0
Other data
Locus	Chr. 14 q13

NPAS3 or Neuronal 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. Disruption of NPAS3 was found in one family affected by schizophrenia^[1] and NPAS3 gene is thought to be associated with psychiatric illness and learning disability.^[2]^[3] NPAS1 and NPAS3-deficient mice display behavioral abnormalities typical to the animal models of schizophrenia.^[4] 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]

[edit] See also

bHLH-PAS superfamily of transcription factors
- Npas2
- Per
- Clock
- Sim
- Arnt
- Hifia
- Trh
Transcription factor
Reelin
Human accelerated regions

[edit] External links

The McKnight Lab - Current Projects - Steven L. McKnight laboratory where NPAS3 mechanisms and its role in mental illness are being investigated.

Pollard et.al. 2006 supplement - PDF supplement to the article on on HARs, listing NPAS3 in HAR21.

[edit] References

^ Kamnasaran D, Muir WJ, Ferguson-Smith MA, Cox DW. (2003) Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet. 2003 May;40(5):325-32. PMID 12746393 Free Full Text
^ Pickard BS, Malloy MP, Porteous DJ, Blackwood DH, Muir WJ. (2005) Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability.Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136(1):26-32. PMID 15924306
^ Pickard BS, Pieper AA, Porteous DJ, Blackwood DH, Muir WJ. The NPAS3 gene--emerging evidence for a role in psychiatric illness. Ann Med. 2006;38(6):439-48. PMID 17008307
^ Erbel-Sieler C, Dudley C, Zhou Y, Wu X, Estill SJ, Han T, Diaz-Arrastia R, Brunskill EW, Potter SS, McKnight SL. Behavioral and regulatory abnormalities in mice deficient in the NPAS1 and NPAS3 transcription factors. Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13648-53. Epub 2004 Sep 3. PMID 15347806 Free Full Text
^ Pollard K. et. al. An RNA gene expressed during cortical development evolved rapidly in humans. Advanced electronic publishing. Nature. August 16, 2006. PMID 16915236 supplement