54116 Results for: "2,3-Dichlorobenzenesulphonyl+chloride&pageNo=48"

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Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The C16orf72 gene product has been provisionally designated C16orf72 pending further characterization.

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C5orf20 is a intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans

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TROY is a member of the TNF receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate the JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.

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HCV is a positive, single-stranded RNA virus in the Flaviviridae family. The genome is approximately 10,000 nucleotides and encodes a single polyprotein of about 3,000 amino acids. The polyprotein is processed by host cell and viral proteases into three major structural proteins and several non-structural protein necessary for viral replication. Several different genotypes of HCV with slightly different genomic sequences have since been identified that correlate with differences in response to treatment with interferon alpha.

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RTF1 is the the major histocompatibility complex (MHC) in the rat which contains genes that code for two class II histocompatibility antigens. RT1-B is an antigen of the RT1 complex. It is a protein dimer consisting of an alpha and beta glycoprotein chain and is homologous to I-A and I-E genes, respectively, in the H-2 complex of the mouse. MHC Class II antigens are useful in studying T helper cell interaction with class II positive antigen presenting cells (dendritic cells, B cells, macrophages) and offer new possibilities for studying the development of T helper cells since these also stain stromal cells in the thymus.

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Sam 68 is a protein that is phosphorylated on tyrosine and functions as a substrate for Src family tyrosine kinases during mitosis. Sam 68 also associates with several SH2 and SH3 domain-containing signaling proteins, such as GRB2 and PLC ?. Originally cloned as Ras GAP-associated p62, further investigations have shown that Sam 68 and Ras GAP-associated p62 are not antigenically related, nor are they encoded by the same gene. Like Sam 68, the Sam 68-like mammalian proteins, SLM-1 and SLM-2, demonstrate RNA binding activity. Also like Sam 68, SLM-1 is tyrosine phosphorylated and functions as an adapter protein for signaling molecules, including GRB2, PLC ?, Fyn and Ras GAP. SLM-2 is not tyrosine phosphorylated, nor does it appear to associate with GRB2, PLC ?, Fyn or Ras GAP, indicating that SLM-2 may not be an adapter protein for these proteins.

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Gelsolin is a calcium dependent actin binding protein. It is a potent modulator of actin filament length and gelation. Gelsolin has been shown to exist in at least two variant forms, cytoplasmic gelsolin and plasma gelsolin. Plasma gelsolin has also been called actin depolymerizing factor (ADF) or brevin. Human plasma and rabbit macrophage gelsolins differ by the presence of a 25 amino acid residue extension at the NH2 terminus in the human plasma gelsolin, which appears to account for the difference in relative molecular weights.

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Non-neuronal microtubule-associated protein. Promotes microtubule assembly.

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This gene belongs to the chemokine like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified.

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Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF and other growth factors. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the interleukin-6 (IL-6)-responsive elements identified in the promoters of various acute-phase protein genes. Activated by IL31 through IL31RA. Cytoplasmic STAT3 represses macroautophagy by inhibiting EIF2AK2/PKR activity. Plays an important role in host defense in methicillin-resistant S.aureus lung infection by regulating the expression of the antimicrobial lectin REG3G (By similarity).

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Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.

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Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones.

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Insulin receptor substrates (IRS) are responsible for several insulin related activities, such as glucose homeostasis, cell growth, cell transformation, apoptosis and insulin signal transduction. Serine/threonine phosphorylation of IRS1 has been demonstrated to be a negative regulator of insulin signaling and is responsible for its degradation, although IRS1 degradation pathways are not well understood. IRS1 has also been shown to be constitutively activated in cancers such as breast cancer, Wilm's tumors, and adrenal cortical carcinomas, thus making IRS1 phosphorylation and subsequent degradation an attractive therapeutic target. To date there have been four subtypes identified: IRS1, 2, 3 and 4, with IRS1 being widely expressed.

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Tau proteins are important Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. Tau proteins subcellular located in the axons of neurons, in the cytoso l and in association with plasma membrane components. It expressed in neurons. PNS-tau is expressed in the peripheral nervous system while the others are expressed in the central nervous system.

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Target of p53/TP53 with pro-apoptotic function.

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GPR120, a member of the rhodopsin family of G protein-coupled receptors (GPCRs), is a 377 amino acid protein which is expressed in the intestine. GPR120 is a receptor for unsaturated long-chain FFAs (free fatty acids). FFAs act as signaling molecules and are an important energy source. They also employ various physiological responses through their GPCRs. One such response occurs when dietary FFAs stimulate GPR120. This stimulation promotes the secretion of glucagon-like peptide 1 (GLP-1) in vivo and in vitro. GLP-1 belongs to the class of molecules known as the incretins, which are associated with insulin secreted from the pancreas as a result of food intake. GLP-1 also inhibits glucagon and gastric acid secretion and gastric emptying. Consequently, the role of GPR120 in the secretion of GLP-1 is critical in the treatment of diabetes.

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CLN8, a 286 amino acid transmembrane protein, localizes mainly to the endoplasmic reticulum, but also partially to the ER-Golgi intermediate compartment (ERGIC). Mutations in the CLN8 gene cause neuronal ceroid lipofuscinosis 8 and progressive epilepsy with mental retardation (EPMR). Both disorders are forms of neuronal ceroid-lipofuscinose (NCL), a group of progressive neurodegenerative diseases found in children, characterized by failure of psychomotor development, impaired vision, seizures and premature death. The CLN8 protein is one of eight proteins in the CLN family, including CLN1-CLN7, which are associated with NCL.

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Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011].

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Type I collagen is a member of group I collagen (fibrillar forming collagen).

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf64 gene product has been provisionally designated C1orf64 pending further characterization.

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The charged multivesicular body proteins, commonly designated CHMPs, belong to the vacuolar sorting protein family and function as chromatin-modifying proteins. CHMP1-6 are all components of ESCRT (endosomal sorting complex required for transport) I, II or III complexes. These complexes are crucial for sorting endosomal articles into multivesicular bodies (MVBs), and are also required for the formation of these bodies. CHMP2B, also known as CHMP2.5 or vacuolar protein-sorting-associated protein 2-2, is a 213 amino acid cytosolic protein. Widely expressed in brain, heart, skeletal muscle, small intestine, pancreas, lung, placenta and leukocytes, CHMP2B associates directly with CHMP2A and vps4 for the disassembly of the ESCRT-III complex. Defects in the gene encoding CHMP2B have been shown to cause chromosome 3-linked frontotemporal dementia (FTD3).

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf79 gene product has been provisionally designated C20orf79 pending further characterization.

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The RIPK5 gene encodes a dual serine/threonine and tyrosine protein kinase that is expressed in multiple tissues. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.

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Smad2 is a 58 kDa member of a family of proteins involved in cell proliferation, differentiation and development. The Smad family is divided into three subclasses: receptor-regulated Smad's, activin/TGF alpha receptor-regulated (Smad2 and 3) or BMP receptor regulated (Smad1, 5, and 8); the common partner, (Smad4) that functions via its interaction to the various Smad's; and the inhibitory Smad's, (Smad6 and Smad7). Smad2 consists of two highly conserved domains, the N terminal Mad homology (MH1) and the C-terminal Mad homology 2 (MH2) domains. The MH1 domain binds DNA and regulates nuclear import and transcription while the MH2 domain conserved among all the Smad's regulates Smad2 oligomerization and binding to cytoplasmic adaptors and transcription factors. Activated Smad2 associates with Smad4 and translocates as a complex into the nucleus, allowing its binding to DNA and transcription factors. This translocation of Smad2 (as well as Smad3) into the nucleus is a central event in TGF beta signaling. Phosphorylation of threonine 8 in the calmodulin binding region of the MH1 domain by extracellular signal regulated kinase 1(ERK 1) enhances Smad2 transcriptional activity, which is negatively regulated by calmodulin. The regulation of Smad2 phosphorylation on threonine 8 by ERK 1 and calmodulin is critical for Smad2 mediated signaling.

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FBXL17

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CNOT2 (CCR4-NOT transcription complex subunit 2) is a ubiquitous protein encoded by the human gene CNOT2. CNOT2 belongs to the CNOT2/3/5 family and is part of the CCR4-NOT complex. The CCR4-NOT complex is an evolutionarily conserved, multi-component complex known to be involved in transcription as well as mRNA degradation. Various subunits (e.g. CNOT1, CNOT2) are involved in influencing nuclear hormone receptor activities. The CCR4-NOT complex is also involved in the regulation of Histone H3 lysine 4 methylation through a ubiquitin-dependent pathway that likely involves the proteasome. Increased expression of the CNOT2 subunit acts to strongly repress transcription by RNA polymerase II. This repressive effect is mediated by a conserved NOT-Box, which is located at the C-terminus of CNOT2 proteins. Repression by the NOT-Box is sensitive to treatment with the histone deacetylase (HDAC) inhibitor trichostatin A.

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SCAP is an escort protein required for cholestrol and lipid homeostasis. Cholesterol homeostasis in animal cells is achieved by regulated cleavage of SREBPs, membrane-bound transcription factors. SCAP forms a complex with SREBPs in order to release the active domains of SREBPs.

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Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress. Recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3'. Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation.

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The Forkhead-box (FOX) genes comprise a superfamily of at least 43 members that encode proteins which are involved in transcriptional regulation and may be associated with the pathogenesis of various cancers. FOXB1 (forkhead box B1), also known as FKH5 or HFKH-5, and FOXB2 (forkhead box B2) are members of the FOX family and each contain one forkhead DNA-binding domain. Both FOXB1 and FOXB2 localize to the nucleus where they are thought to function as transcription factors that can bind to DNA via their forkhead domains. In mice, defects in the gene encoding FOXB1 are associated with retarded development of the central nervous system (CNS), suggesting that FOXB1 may play a role in CNS organization and function.