110513 Results for: "Amberlite\u00AE+MB-20&pageNo=30"

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Actin-related proteins are classified into Arp subclasses according to their amino acid sequence similarity to Actin. Both Arps and Actin proteins have an ATPase domain, which catalyzes the decomposition of adenosine triphosphate (ATP) into adenosine diphosphate (ADP) and a free phosphate ion to release energy. ArpM1 (actin-related protein M1) is a 372 amino acid ubiquitously expressed protein that localizes to both the cytoplasm and the cytoskeleton and belongs to the Arp family of Actin-like proteins. The gene encoding ArpM1 maps to human chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci.

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Copper is an essential micronutrient used as a co-factor for several essential enzymes in all living organisms. Due to the high toxicity of copper, its metabolism is tightly regulated and defects in this regulation can cause Menkes (deficiency) or Wilson (accumulation) disease in various tissue. CUTC (cutC copper transporter homolog (E. coli)), also known as CGI-32, is a 273 amino acid protein belonging to the cutC family. CUTC is involved in copper homeostasis and is encoded by a gene located on human chromosome 10, which contains over 800 genes and 135 million nucleotides. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. Other chromosome 10 associated disorders include Cockayne syndrome, tetrahydrobiopterin deficiency and trisomy 10.

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The long terminal repeat binding protein-1 (LBP-1) mammalian family of transcription factors are proteins that stimulate transcription in HeLa cells from the major late promoter of simian virus 40 in vitro. The two related human LBP-1 genes are TFCP2A, which encodes the alternatively spliced transcripts LBP-1a and LBP-1b, and TFCP2C, which encodes LBP-1c and LBP-1d. LBP-9, also designated transcription factor CP2-like 1 (TFCP2L1), is a protein of 479 amino acids. LBP-9 shows 83% sequence homology with LBP-1b and acts as a suppressor factor inhibiting the stimulation effect of LBP-1b. LBP-9 may regulate the P450scc reporter activity through the -155/-131 element.

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Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor.

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Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway.

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C6ORF199.

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Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ.

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HERC1 is a stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes.

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Essential for mesoderm formation and axial patterning during embryonic development.

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G2A (for G2 accumulation) is a seven transmembrane G protein-coupled receptor that is upregulated in response to DNA damage and stress (1). G2A is predominantly expressed in hematopoietic tissues and in hematopoietic stem cells, and it is more highly detected in pro-B cells, while lower expression is observed in immature B cells and pre-B cells (1,2). G2A is expressed throughout T cell maturation, and it is further increased in response to T-cell activation (3). Ectopic expression of a G2A fusion protein in NIH/3T3 fibroblasts induces a cell cycle arrest that is consistent with a block at the G2/M transition (1,4). G2A is also able to attenuate the proliferative effects of Bcr-Abl, a chimeric tyrosine kinase oncogene, suggesting that G2A possesses anti-oncogenic properties (5). The amino acid sequence of G2A contains a destruction box motif that is consistently observed in cyclins, where it is required for ubiquitination and proteolytic degradation (6).

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Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF263 (Zinc finger protein 263), also known as FPM315 or ZKSCAN12 (Zinc finger protein with KRAB and SCAN domains 12), is a 683 amino acid nuclear protein that contains nine C2H2-type zinc fingers, one KRAB domain and one SCAN box domain. ZNF263 acts as a transcriptional repressor in the nucleus and is expressed in various tissues including heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte.

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Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP). Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.

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Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1. Promotes neuronal cell death.

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Involved in both the initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors such as ELK-1. Phosphorylates EIF4EBP1; required for initiation of translation. Phosphorylates microtubule-associated protein 2 (MAP2). Phosphorylates SPZ1. Phosphorylates heat shock factor protein 4(HSF4) (By similarity). Highest levels within the nervous system, expressed in different tissues, mostly in intestine, placenta and lung. Increased expression during development. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain.

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Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome.

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EPHEXIN is a 710 amino acid protein that localizes to both the membrane and the cytoplasm and contains one SH3 domain, one PH domain and one DH domain. Expressed at high levels in brain and present at lower levels in lung tissue, EPHEXIN interacts with EphA4 and functions as a guanine nucleotide exchange factor (GEF) that is capable of activating Rho A, Rac 1 and Cdc42 and is thought to play a role in axon guidance and growth cone collapse. EPHEXIN is subject to Src-dependent phosphorylation, an event that increases the GEF activity of EPHEXIN toward Rho A. Human EPHEXIN, which exists as multiple alternatively spliced isoforms, shares a high degree of sequence homology with its mouse counterpart, suggesting a conserved role between species.

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Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

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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 C1orf114 gene product has been provisionally designated C1orf114 pending further characterization.

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Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis.

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The protein encoded by this gene is a transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. [provided by RefSeq].

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Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes.

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Infectious bursal disease (IBD) is caused by infectious bursal disease virus (IBDV) an avian Birnavirus first described in the USA near the town of Gumboro Delaware and thus the disease is also known as Gumboro disease. There are 3 recognized pathogenic types of IBDV; classic virulent (cvIBDV), sub-clinical (scIBDV), and very virulent (vvIBDV). All three pathogenic types of IBDV cause immune suppression which leads to secondary infections and a failure to produce an immune response to vaccines. The cvIBDV typically cause a high morbidity and low mortality disease while the scIBDV cause very little morbidity and no mortality. The vvIBDV cause an acute disease in chickens characterized by high morbidity and high mortality.

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LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915)

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Natriuretic peptide receptor C does not exhibit guanylate cyclase activity. There seem to be at least three ANP receptors: two with guanylate cyclase activity (ANPA and ANPB) and one (ANPC) which is probably responsible for the clearance of ANP from the circulation without a role in signal transduction.

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Vasopressin, also known as arginine vasopressin (AVP) or antidiuretic hormone (ADH), is a posterior pituitary hormone that is synthesised in the hypothalamus. Vasopressin is synthesised as a precursor protein that consists of arginine vasopressin and two associated proteins, neurophysin 2 and the glycopeptide copeptin. Vasopressin, together with its carrier protein neurophysin II, is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. Vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney and also causes vasoconstriction of the peripheral vessels. Vasopressin can also contract smooth muscle during parturition and lactation. It also plays a role in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in the vasopressin precursor cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI), which is characterised by persistant thirst, polydipsia and polyuria.

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May be involved in transcriptional regulation.

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The CTX family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion.

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Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf57 gene product has been provisionally designated C9orf57 pending further characterisation.

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Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2 (By similarity). Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA-box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box.

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G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins but also to the Gq family (PubMed:12496283, PubMed:12711604, PubMed:23589301). Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation. May play a role in glucose homeostasis by regulating the secretion of GLP-1, in response to short-chain fatty acids accumulating in the intestine. May also regulate the production of LEP/Leptin, a hormone acting on the central nervous system to inhibit food intake. Finally, may also regulate whole-body energy homeostasis through adipogenesis regulating both differentiation and lipid storage of adipocytes. In parallel to its role in energy homeostasis, may also mediate the activation of the inflammatory and immune responses by SCFA in the intestine, regulating the rapid production of chemokines and cytokines. May also play a role in the resolution of the inflammatory response and control chemotaxis in neutrophils. In addition to SCFAs, may also be activated by the extracellular lectin FCN1 in a process leading to activation of monocytes and inducing the secretion of interleukin-8/IL-8 in response to the presence of microbes (PubMed:21037097).