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Aliases | NPAS3 , neuronal PAS domain protein 3, MOP6, PASD6, bHLHe12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 609430 MGI: 1351610 HomoloGene: 8461 GeneCards: NPAS3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
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 models of schizophrenia. [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]
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]
The biopsychiatry controversy is a dispute over which viewpoint should predominate and form a basis of psychiatric theory and practice. The debate is a criticism of a claimed strict biological view of psychiatric thinking. Its critics include disparate groups such as the antipsychiatry movement and some academics.
Calcium channel, voltage-dependent, L type, alpha 1C subunit is a protein that in humans is encoded by the CACNA1C gene. Cav1.2 is a subunit of L-type voltage-dependent calcium channel.
Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q21.2.
Disrupted in schizophrenia 1 is a protein that in humans is encoded by the DISC1 gene. In coordination with a wide array of interacting partners, DISC1 has been shown to participate in the regulation of cell proliferation, differentiation, migration, neuronal axon and dendrite outgrowth, mitochondrial transport, fission and/or fusion, and cell-to-cell adhesion. Several studies have shown that unregulated expression or altered protein structure of DISC1 may predispose individuals to the development of schizophrenia, clinical depression, bipolar disorder, and other psychiatric conditions. The cellular functions that are disrupted by permutations in DISC1, which lead to the development of these disorders, have yet to be clearly defined and are the subject of current ongoing research. Although, recent genetic studies of large schizophrenia cohorts have failed to implicate DISC1 as a risk gene at the gene level, the DISC1 interactome gene set was associated with schizophrenia, showing evidence from genome-wide association studies of the role of DISC1 and interacting partners in schizophrenia susceptibility.
Receptor tyrosine-protein kinase erbB-4 is an enzyme that in humans is encoded by the ERBB4 gene. Alternatively spliced variants that encode different protein isoforms have been described; however, not all variants have been fully characterized.
G protein-coupled receptor 50 is a protein which in humans is encoded by the GPR50 gene.
cAMP-specific 3',5'-cyclic phosphodiesterase 4B is an enzyme that in humans is encoded by the PDE4B gene.
Nuclear distribution protein nudE-like 1 is a protein that in humans is encoded by the NDEL1 gene.
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POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the POU3F2 gene.
Translin-associated protein X is a protein that in humans is encoded by the TSNAX gene.
Myosin-Vb, a myosin V type protein, is encoded by the MYO5B gene in humans.
GRIK4 is a kainate receptor subtype belonging to the family of ligand-gated ion channels which is encoded by the GRIK4 gene.
Neuregulin 3, also known as NRG3, is a neural-enriched member of the neuregulin protein family which in humans is encoded by the NRG3 gene. The NRGs are a group of signaling proteins part of the superfamily of epidermal growth factor, EGF like polypeptide growth factor. These groups of proteins possess an 'EGF-like domain' that consists of six cysteine residues and three disulfide bridges predicted by the consensus sequence of the cysteine residues.
ATP-binding cassette sub-family A member 13 also known as ABCA13 is a protein that in humans is encoded by the ABCA13 gene on chromosome 7. It belongs to the wide ATP-binding cassette family of proteins. The protein contains 5058 residues, and is currently the largest known protein of the ABC family.
In molecular biology, disrupted in schizophrenia 2 , also known as DISC2, is a long non-coding RNA molecule. In humans, the DISC2 gene that produces the DISC2 RNA molecule is located on chromosome 1, at the breakpoint associated with the chromosomal translocation found in Schizophrenia. It is antisense to the DISC1 gene and may regulate the expression of DISC1. DISC2 may also contribute to other psychiatric disorders.
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Transmembrane protein 200A is a protein that in humans is encoded by the TMEM200A gene.
Pamela Sklar was an American psychiatrist and neuroscientist. She was Chair of the Department of Genetics and Genomic Sciences and professor of psychiatry, neuroscience, and genetic and genomic sciences at the Icahn School of Medicine at Mount Sinai. She was also chief of the Division of Psychiatric Genomics at the Icahn School of Medicine at Mount Sinai. Sklar is known for her large-scale gene discovery studies in bipolar disorder and schizophrenia and for making some of the first statistically meaningful gene identifications in both mental illnesses.
Myelin transcription factor 1 like is a protein that in humans is encoded by the MYT1L gene.