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NME1
Nucleoside diphosphate kinase A is an enzyme that in humans is encoded by the ''NME1'' gene. It is thought to be a metastasis suppressor. Function This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally occurring transcripts (NME1-NME2), which encodes a fusion protein consisting of sequence sharing identity with each individual gene product. Interactions NME1 has been shown to interact with: * Aurora A kinase, * CD29 * NME3, * Protein SET, * RAR-related orphan receptor alpha, * RAR-related orphan receptor beta, and * TERF1. See also *Nucleos ...
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RAR-related Orphan Receptor Alpha
RAR-related orphan receptor alpha (RORα), also known as NR1F1 (nuclear receptor subfamily 1, group F, member 1) is a nuclear receptor that in humans is encoded by the ''RORA'' gene. RORα participates in the transcriptional regulation of some genes involved in circadian rhythm. In mice, RORα is essential for development of cerebellum through direct regulation of genes expressed in Purkinje cells. It also plays an essential role in the development of type 2 innate lymphoid cells (ILC2) and mutant animals are ILC2 deficient. In addition, although present in normal numbers, the ILC3 and Th17 cells from RORα deficient mice are defective for cytokine production. Discovery The first three-human isoforms of RORα were initially cloned and characterized as nuclear receptors in 1994 by Giguère and colleagues, when their structure and function were first studied. In the early 2000s, various studies demonstrated that RORα displays rhythmic patterns of expression in a circadian cy ...
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RAR-related Orphan Receptor Beta
RAR-related orphan receptor beta (ROR-beta), also known as NR1F2 (nuclear receptor subfamily 1, group F, member 2) is a nuclear receptor that in humans is encoded by the ''RORB'' gene. Function The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside-diphosphate kinase involved in organogenesis and differentiation. In the brain, ROR-beta is concentrated in layer 4 of the cerebral cortex, where it plays a role in the development of structures such as barrel columns. A mutation in this gene also results in the loss of spinal cord interneurons and of saltatorial locomotion, a type of hopping gait that in mammals can be found in rabbits, hares, kangaroos, and som ...
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TERF1
Telomeric repeat-binding factor 1 is a protein that in humans is encoded by the ''TERF1'' gene. Gene The human TERF1 gene is located in the chromosome 8 at 73,921,097-73,960,357 bp. Two transcripts of this gene are alternatively spliced products. The TERF1 gene is also known as TRF, PIN2 (Proteinase Inhibitor 2), TRF1, t-TRF1 and h-TRF1-AS. Protein The protein structure contains a C-terminal Myb motif, a dimerization domain (TERF homology) near its N-terminus and an acidic N-terminus. Subcellular distribution The cellular distribution of this DNA binding protein features the nucleoplasm, chromosomes, a telomeric region, a nuclear telomere cap complex, the cytoplasm, the spindle, the nucleus and a nucleolus and a nuclear chromosome. Function TERF 1 gene encodes a telomere specific protein which is a component of the telomere's shelterin nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, ac ...
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Aurora A Kinase
Aurora kinase A also known as serine/threonine-protein kinase 6 is an enzyme that in humans is encoded by the ''AURKA'' gene. Aurora A is a member of a family of mitotic serine/threonine kinases. It is implicated with important processes during mitosis and meiosis whose proper function is integral for healthy cell proliferation. Aurora A is activated by one or more phosphorylations and its activity peaks during the G2 phase to M phase transition in the cell cycle. Discovery The aurora kinases were first identified in 1990 during a cDNA screen of ''Xenopus'' eggs. The kinase discovered, Eg2, is now referred to as Aurora A. It was not until 1998, however, that Aurora A's meiotic and mitotic importance was realized. Aurora kinase family The human genome contains three members of the aurora kinase family: Aurora kinase A, Aurora kinase B and Aurora C kinase. The ''Xenopus'', ''Drosophila'', and ''Caenorhabditis elegans'' genomes, on the other hand, contain orthologues on ...
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CD29
Integrin beta-1 (ITGB1), also known as CD29, is a cell surface receptor that in humans is encoded by the ''ITGB1'' gene. This integrin associates with integrin alpha 1 and integrin alpha 2 to form integrin complexes which function as collagen receptors. It also forms dimers with integrin alpha 3 to form integrin receptors for netrin 1 and reelin. These and other integrin beta 1 complexes have been historically known as very late activation (VLA) antigens. Integrin beta 1 is expressed as at least four different isoforms. In cardiac muscle and skeletal muscle, the integrin beta-1D isoform is specifically expressed, and localizes to costameres, where it aids in the lateral force transmission from the Z-discs to the extracellular matrix. Abnormal levels of integrin beta-1D have been found in limb girdle muscular dystrophy and polyneuropathy. Structure Integrin beta-1 can exist as different isoforms via alternative splicing. Six alternatively spliced variants have been found f ...
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NME3
Nucleoside diphosphate kinase 3 is an enzyme that in humans is encoded by the ''NME3'' gene. Interactions NME3 has been shown to interact with NME1 and NME2. Clinical significance Mutations in this gene have been associated with congenital hypotonia, hypoventilation Hypoventilation (also known as respiratory depression) occurs when ventilation is inadequate (''hypo'' meaning "below") to perform needed respiratory gas exchange. By definition it causes an increased concentration of carbon dioxide (hypercapnia ... and cerebellar histopathological alterations. References Further reading * * * * * * * External links

* {{Gene-16-stub ...
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Protein SET
Protein SET, also known as Protein SET 1, is a protein that in humans is encoded by the ''SET'' gene. Interactions Protein SET has been shown to interact with: * Acidic leucine-rich nuclear phosphoprotein 32 family member A, * CDK5R1, * KLF5, * NME1, and * TAF1A TATA box-binding protein-associated factor RNA polymerase I subunit A is an enzyme that in humans is encoded by the ''TAF1A'' gene. Function Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TA .... References Further reading * * * * * * * * * * * * * * * * * Histone Acetyltransferase Inhibitor {{protein-stub ...
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Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ...
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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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Metastasis Suppressor
A metastasis suppressor is a protein that acts to slow or prevent metastases (secondary tumors) from spreading in the body of an organism with cancer. Metastasis is one of the most lethal cancer processes. This process is responsible for about ninety percent of human cancer deaths. Proteins that act to slow or prevent metastases are different from those that act to suppress tumor growth. Genes for about a dozen such proteins are known in humans and other animals. Background The treatment of cancer usually aims to destroy and/or stop the growth of the primary tumor. Major improvements in the methods of surgery, radiation and chemotherapy have taken place, but corresponding improvements in patient survival have not always followed. Treatments that focus on the primary cancer typically do not address metastasis. Metastasis suppressors act by different mechanisms than tumor suppressors and do not affect primary tumors. Tumor suppressors, however, also inhibit metastasis, since meta ...
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