NPAS3
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NPAS3 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) |
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RefSeq (protein) | |||||||||
Location (UCSC) | Chr 14: 32.93 – 33.82 Mb | Chr 12: 53.25 – 54.07 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
NPAS3 or Neuronal PAS domain protein 3 is a brain-enriched
Function
NPAS3 is also known as human accelerated region 21. It may, therefore, have played a key role in differentiating humans from apes.[5]
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
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
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000151322 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021010 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ S2CID 18107797.
- PMID 15347806.
- PMID 12746393.
- S2CID 33879828.
- PMID 17008307.
- PMID 18317462.
- ^ Lavedan C, Volpi S, Mack K, et al. Whole-genome association study identifies polymorphisms in the NPAS3 gene associated with super-response to iloperidone treatment in patients with schizophrenia. Program and abstracts of the 57th Annual Meeting of the American Society of Human Genetics; October 23–27, 2007; San Diego, California. Abstract 1035/T
Further reading
- Kamnasaran D, Muir WJ, Ferguson-Smith MA, Cox DW (May 2003). "Disruption of the neuronal PAS3 gene in a family affected with schizophrenia". Journal of Medical Genetics. 40 (5): 325–32. PMID 12746393.
- Moreira F, Kiehl TR, So K, Ajeawung NF, Honculada C, Gould P, Pieper RO, Kamnasaran D (Jul 2011). "NPAS3 demonstrates features of a tumor suppressive role in driving the progression of Astrocytomas". The American Journal of Pathology. 179 (1): 462–76. PMID 21703424.
- Kamnasaran D, Ajewung N, Rana M, Gould P (2010). "393 NPAS3 is a novel late-stage acting progression factor in gliomas with tumour suppressive functions". European Journal of Cancer Supplements. 8 (5): 100. .
- Long PM, Wesley UV, Jaworski DM (2010). "CB-01. Regulation of aminoacylase expression in neuroblastoma". Neuro-Oncology. 12 (Supplement 4): iv7–iv25. PMC 3199169.
- Wong J, Duncan CE, Beveridge NJ, Webster MJ, Cairns MJ, Weickert CS (Mar 2013). "Expression of NPAS3 in the human cortex and evidence of its posttranscriptional regulation by miR-17 during development, with implications for schizophrenia". Schizophrenia Bulletin. 39 (2): 396–406. PMID 22228753.
- Shin J, Jeong HY, Lee KE, Kim J (Sep 2010). "Isolation and Characterization of Chicken NPAS3". Experimental Neurobiology. 19 (2): 71–4. PMID 22110344.
- Fonseca DJ, Prada CF, Siza LM, Angel D, Gomez YM, Restrepo CM, Douben H, Rivadeneira F, de Klein A, Laissue P (Mar 2012). "A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin". American Journal of Medical Genetics Part A. 158A (3): 689–93. S2CID 9506804.