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Cyfip2
Cytoplasmic FMR1-interacting protein 2 is a protein that in humans is encoded by the ''CYFIP2'' gene. Cytoplasmic FMR1 interacting protein is a 1253 amino acid long protein and is highly conserved sharing 99% sequence identity to the mouse protein. It is expressed mainly in brain tissues, white blood cells and the kidney. Interactions CYFIP2 has been shown to interact with FMR1. CYFIP2 is a p-53 inducible protein and also interacts with the Fragile=X mental retardation protein.Schenck, A., Bardoni, B., Moro, A., Bagni, C., Mandel, J.-L. (2001) Proceedings of the National Academy of Sciences of the United States of America, 98, 8844-8849. RNA editing The pre-mRNA of this protein is subject to RNA editing. The editing site was previously recorded as a single nucleotide polymorphism (rs3207362) in the dbSNP. Type A to I RNA editing is catalyzed by a family of adenosine deaminases acting on RNA (ADARs) that specifically recognize adenosines within double-stranded regions o ...
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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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Proc
Proc may refer to: * Proč, a village in eastern Slovakia * '' Proč?'', a 1987 Czech film * procfs or proc filesystem, a special file system (typically mounted to ) in Unix-like operating systems for accessing process information * Protein C (PROC) * Proc, a term in video game terminology * Procedures or process, in the programming language ALGOL 68 * People's Republic of China, the formal name of China China, officially the People's Republic of China (PRC), is a country in East Asia. It is the world's most populous country, with a population exceeding 1.4 billion, slightly ahead of India. China spans the equivalent of five time zones and ... * the official acronym for the Canadian House of Commons Standing Committee on Procedure and House Affairs {{disambiguation ...
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FMR1
''FMR1'' (Fragile X Messenger Ribonucleoprotein 1) is a human gene that codes for a protein called ''fragile X messenger ribonucleoprotein'', or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits. The FMR1 premutation is associated with a wide spectrum of clinical phenotypes that affect more than two million people worldwide. Function Synaptic plasticity FMRP has a diverse array of functions throughout different areas of the neuron; however these functions have not been fully characterized. FMRP has been suggested to play roles in nucleocytoplasmic shuttling of mRNA, dendritic mRNA localization, and synaptic protein synthesis. Studies of Fragile X syndrome have significantly aided in the understanding of the ...
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EMBO J
''The EMBO Journal'' is a semi-monthly peer-reviewed scientific journal focusing on full-length papers describing original research of general interest in molecular biology and related areas. The editor-in-chief is Facundo D. Batista (Harvard Medical School). History The journal was established in 1982 and was published by Nature Publishing Group on behalf of the European Molecular Biology Organization until the launch of EMBO Press in 2013. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2021 impact factor of 13.783. See also *''EMBO Reports'' *''Molecular Systems Biology ''Molecular Systems Biology'' is a peer-reviewed open-access scientific journal covering systems biology at the molecular level (examples include: genomics, proteomics, metabolomics, microbial systems, the integration of cell signaling and r ...'' References External links * * (1986–2003 issues from microfilm) ...
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Messenger RNA
In molecular biology, messenger ribonucleic acid (mRNA) is a single-stranded molecule of RNA that corresponds to the genetic sequence of a gene, and is read by a ribosome in the process of synthesizing a protein. mRNA is created during the process of transcription, where an enzyme (RNA polymerase) converts the gene into primary transcript mRNA (also known as pre-mRNA). This pre-mRNA usually still contains introns, regions that will not go on to code for the final amino acid sequence. These are removed in the process of RNA splicing, leaving only exons, regions that will encode the protein. This exon sequence constitutes mature mRNA. Mature mRNA is then read by the ribosome, and, utilising amino acids carried by transfer RNA (tRNA), the ribosome creates the protein. This process is known as translation. All of these processes form part of the central dogma of molecular biology, which describes the flow of genetic information in a biological system. As in DNA, genetic inf ...
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RNA Editing
RNA editing (also RNA modification) is a molecular process through which some cells can make discrete changes to specific nucleotide sequences within an RNA molecule after it has been generated by RNA polymerase. It occurs in all living organisms and is one of the most evolutionarily conserved properties of RNAs. RNA editing may include the insertion, deletion, and base substitution of nucleotides within the RNA molecule. RNA editing is relatively rare, with common forms of RNA processing (e.g. splicing, 5'-capping, and 3'-polyadenylation) not usually considered as editing. It can affect the activity, localization as well as stability of RNAs, and has been linked with human diseases. RNA editing has been observed in some tRNA, rRNA, mRNA, or miRNA molecules of eukaryotes and their viruses, archaea, and prokaryotes. RNA editing occurs in the cell nucleus, as well as within mitochondria and plastids. In vertebrates, editing is rare and usually consists of a small number of changes t ...
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Adenosine Deaminase
Adenosine deaminase (also known as adenosine aminohydrolase, or ADA) is an enzyme () involved in purine metabolism. It is needed for the breakdown of adenosine from food and for the turnover of nucleic acids in tissues. Its primary function in humans is the development and maintenance of the immune system. However, the full physiological role of ADA is not yet completely understood. Structure ADA exists in both small form (as a monomer) and large form (as a dimer-complex). In the monomer form, the enzyme is a polypeptide chain, folded into eight strands of parallel α/β barrels, which surround a central deep pocket that is the active site. In addition to the eight central β-barrels and eight peripheral α-helices, ADA also contains five additional helices: residues 19-76 fold into three helices, located between β1 and α1 folds; and two antiparallel carboxy-terminal helices are located across the amino-terminal of the β-barrel. The ADA active site contains a zinc ion, ...
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Inosine
Inosine is a nucleoside that is formed when hypoxanthine is attached to a ribose ring (also known as a ribofuranose) via a β-N9-glycosidic bond. It was discovered in 1965 in analysis of RNA transferase. Inosine is commonly found in tRNAs and is essential for proper translation of the genetic code in wobble base pairs. Knowledge of inosine metabolism has led to advances in immunotherapy in recent decades. Inosine monophosphate is oxidised by the enzyme inosine monophosphate dehydrogenase, yielding xanthosine monophosphate, a key precursor in purine metabolism. Mycophenolate mofetil is an anti-metabolite, anti-proliferative drug that acts as an inhibitor of inosine monophosphate dehydrogenase. It is used in the treatment of a variety of autoimmune diseases including granulomatosis with polyangiitis because the uptake of purine by actively dividing B cells can exceed 8 times that of normal body cells, and, therefore, this set of white cells (which cannot operate purine salvage p ...
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ADAR
Adar ( he, אֲדָר ; from Akkadian ''adaru'') is the sixth month of the civil year and the twelfth month of the religious year on the Hebrew calendar, roughly corresponding to the month of March in the Gregorian calendar. It is a month of 29 days. Names and Leap Years The month's name, like all the others from the Hebrew calendar, was adopted during the Babylonian captivity. In the Babylonian calendar the name was Araḫ Addaru or Adār ('Month of Adar'). In leap years, it is preceded by a 30-day intercalary month named Adar Aleph ( he, אדר א׳, Aleph being the first letter of the Hebrew alphabet), also known as "Adar Rishon" (''First Adar'') or "Adar I", and it is then itself called Adar Bet ( he, אדר ב׳, Bet being the second letter of the Hebrew alphabet, also known as "Adar Sheni" (''Second Adar'' or "Adar II"). Occasionally instead of Adar I and Adar II, "Adar" and "Ve'Adar" are used (Ve means 'and' thus: And-Adar). Adar I and II occur during February–March o ...
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ADARB1
Double-stranded RNA-specific editase 1 is an enzyme that in humans is encoded by the ''ADARB1'' gene. The enzyme is a member of ADAR family. Function This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rats found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an Alu cassette insert and a short or long C-terminal region. ADARB1 requires the small molecule inositol hexakisphosphate (IP6) for proper function. ADARB1 is an A-to-I RNA-editing enzyme that mostly acts on protein-coding substrates. See also * Adenosine deaminase Adenosine deaminase (also known as adenosine aminohydrolase, or ADA) is an enzyme () involved in purine metabolism. ...
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