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POU3F2
POU domain, class 3, transcription factor 2 is a protein that in humans is encoded by the ''POU3F2'' gene. Function N-Oct-3 is a protein belonging to a large family of transcription factors that bind to the octameric DNA sequence ATGCAAAT. Most of these proteins share a highly homologous region, referred to as the POU domain, which occurs in several mammalian transcription factors, including the octamer-binding proteins Oct1 (POU2F1; MIM 164175) and Oct2 (POU2F2; MIM 164176), and the pituitary protein Pit1 (PIT1; MIM 173110). Class III POU genes are expressed predominantly in the CNS. It is likely that CNS-specific transcription factors such as these play an important role in mammalian neurogenesis by regulating their diverse patterns of gene expression. Disease linkage The POU3F2 protein associates with the Bipolar disorder. It is involved in the neocortex development in mice, and is linked to a single nucleotide polymorphism, Rs1906252, that is associated with a cognitive ...
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Octamer Transcription Factor
Octamer transcription factors are a family of transcription factors which binds to the "ATTTGCAT" DNA sequence. Their DNA-binding domain is a POU domain. There are eight Octamer proteins in humans (Oct1–11),Oct-5 and Oct-10 are not found in humans, while Oct-3 and Oct-4 were identified as the same protein. which have been renamed according to the different classes of POU domain. Octamer-3/4, also known as POU5F1, is one of the Yamanaka factors, which are critical for the maintenance and self-renewal of embryonic stem cells. On the other hand, Oct-1 and Oct-2 are widely expressed in adult tissues. Oct-7, 8 and 9, also known as "brain factors", are predominantly expressed in the central nervous system during embryonic development. Oct-6 expression is confined to embryonic stem cells and the developing nervous system and skin, while Oct-11 is also involved in skin differentiation. Human Oct proteins * Oct-1 - * Oct-2 Oct-2 (octamer-binding protein 2) also known as POU domain, c ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Bipolar Disorder
Bipolar disorder, previously known as manic depression, is a mental disorder characterized by periods of depression and periods of abnormally elevated mood that last from days to weeks each. If the elevated mood is severe or associated with psychosis, it is called mania; if it is less severe, it is called hypomania. During mania, an individual behaves or feels abnormally energetic, happy or irritable, and they often make impulsive decisions with little regard for the consequences. There is usually also a reduced need for sleep during manic phases. During periods of depression, the individual may experience crying and have a negative outlook on life and poor eye contact with others. The risk of suicide is high; over a period of 20 years, 6% of those with bipolar disorder died by suicide, while 30–40% engaged in self-harm. Other mental health issues, such as anxiety disorders and substance use disorders, are commonly associated with bipolar disorder. While the causes of ...
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PQBP1
Polyglutamine-binding protein 1 (PQBP1) is a protein that in humans is encoded by the ''PQBP1'' gene. Polyglutamine binding protein-1, which was identified as a binding protein to the polyglutamine tract sequence, is an evolutionally conserved protein expressed in various tissues including developmental and adult brains or mesodermal tissues. In cells, PQBP1 is dominantly located in the nucleus but also in the cytoplasm dependently on the cell type and stress conditions. It should be of note that PQBP1 has no relationship with QBP1, an artificial synthetic peptide. Function PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain. The molecular roles of PQBP1 are mainly in mRNA splicing and transcription. PQBP1 interacts with splicing proteins and RNA-binding proteins. PQBP1 deficiency critically affects mRNA splicing of cell cycle and synapse related genes. In addition, recent results indicated implication of PQBP1 in cytoplasmic RNA metabolism and elonga ...
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