118510 Results for: "jodek+potasu&pageNo=30"

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SMARCD3, is a member of the SMARCD family and contains one SWIB domain. Two isoforms, isoform 1 and isoform 2 exist due to alternative splicing events. Both isoforms are expressed in placenta, salivary gland, kidney, brain, trachea, uterus, prostate, testis, thyroid, spleen and heart, while isoform 1 is also expressed in adipose tissue and skeletal muscle. Localizing to the nucleus, SMARCD3 is a component of the ATP-dependent chromatin remodeling complex SNF/SWI and is believed to play a role in nucleosome remodeling. SMARCD3 also plays an important role in the regulation of muscle development. In mice, the silencing of the gene en-coding SMARCD3 leads to defects in heart morphogenesis. In addition, both isoforms of SMARCD3 directly interact with and function as coactivators for several transcription factors.

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During development, genetically distinct subtypes of motor neurons express unique combinations of LIM-type homeodomain factors, which regulate cell migration and guide motor axons to establish the fidelity of a binary choice in axonal trajectory. The LIM gene family encodes a set of gene products, which carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of homeodomains and kinase domains. The human LHX5 gene maps to chromosome 12q23-q24 and encodes a 402 amino acid protein. The hippocampus contains the neural circuitry, which is crucial for cognitive functions such as learning and memory. LHX5 regulates precursor cell proliferation and neuronal differentiation and migration during hippocampal development.

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TSKS is a 592 amino acid protein that is highly expressed in human testicular tissue. Low levels of TSKS are detectable in prostate, placenta, fetal liver, thymus, and mammary gland tissues. TSKS is found to be downregulated in cancerous testicular tissue from seminoma, teratocarcinoma, embryonal and Leydig cell tumors concurrently with high expression in neighboring premalignant carcinoma. TSKS protein contains an N-terminal signal peptide, but does not contain a transmembrane region. TSKS has many potential phosphorylation and glycosylation sites and is phosphorylated by soluble recombinant TSSK2 in vitro. It is thought that TSKS likely plays a physiological role in spermatogenesis or spermiogenesis.

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Glucagon plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes. GLP-1 is a potent stimulator of glucose-dependent insulin release. Play important roles on gastric motility and the suppression of plasma glucagon levels. May be involved in the suppression of satiety and stimulation of glucose disposal in peripheral tissues, independent of the actions of insulin. Have growth-promoting activities on intestinal epithelium. May also regulate the hypothalamic pituitary axis (HPA) via effects on LH, TSH, CRH, oxytocin, and vasopressin secretion. Increases islet mass through stimulation of islet neogenesis and pancreatic beta cell proliferation. Inhibits beta cell apoptosis. GLP-2 stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability. Oxyntomodulin significantly reduces food intake. Inhibits gastric emptying in humans. Suppression of gastric emptying may lead to increased gastric distension, which may contribute to satiety by causing a sensation of fullness. Glicentin may modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life.

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Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation.

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Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2-propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. Attenuates MDM2-mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21.

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The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase(E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini. The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. [provided by RefSeq, Jul 2008].

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[FUNCTION] Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon.

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CNTROB is a centrosomal protein that interacts with BRCA2 and is required for centriole duplication with inhibition of centriole duplication leading to defects in cytokinesis.

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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 C1orf177 gene product has been provisionally designated C1orf177 pending further characterization. There are two isoforms of C1orf177 that are produced as a result of alternative splicing events.

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Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs, c-jun N-terminal kinases (JNKs) and I-kappa-B kinase complex (IKK). Both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1), while nuclear factor-kappa B is activated by IKK. MAP3K7 activates also IKBKB and MAPK8/JNK1 in response to TRAF6 signaling and mediates BMP2-induced apoptosis. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B. Promotes TRIM5 capsid-specific restriction activity.

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Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. IDH3A is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase.

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RRBP1 (Ribosome-binding protein 1) acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.

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CPXM (carboxypeptidase X, member 1) belongs to the peptidase M14 family. However, no carboxypeptidase activity has yet been detected. It may be involved in cell-cell interactions.Members of the M14 metallocarboxypeptidase protein family serve many diverse functions and are divided into three subfamilies based on structure, function and amino acid sequence similarity. Belonging to the N/E subfamily, CPXM (metallocarboxypeptidase CPX-1) is a 734 amino acid protein that contains a F5/8 type C domain and likely binds one zinc ion per subunit. Most members of the N/E subfamily contain several domains, including an active carboxypeptidase domain and signal peptide, and are thought to function mostly in protein-protein interactions and/or protein-membrane interactions, thereby targeting the protein to specific locations within the secretory pathway. CPXM is a unique member of this subfamily in that it does not appear to exhibit any enzymatic activity due to lack of several active-site residues that are present in the catalytic domain of other members of the N/E subfamily. Studies showing that CPXM expression is regulated during osteoclastogenesis suggest that CPXM may play a role in osteoclast differentiation. There are two isoforms of CPXM which are a result of alternative splicing events.

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Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex.

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ANGEL1 , also known as KIAA0759, is a 670 amino acid protein belonging to the CKR-4 protein family. ANGEL1 is encoded by a gene located on human chromosome 14, which contains about 700 genes and 106 million base pairs, making up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus on chromosome 14 and its fusion via translocation with the chromosome 19 encoded protein BCL3 may be related to B-cell malignancies.

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The repulsive guidance molecule (RGM) family of proteins are important in the guidance of growth cones of developing neurons. They are repulsive for a group of axons, those from the temporal half of the retina. RGM have been implicated in both axonal guidance and neural tube closure but as opposed to for ephrins, semaphorins, netrins and slits, no receptor mechanism for RGM activation has been defined. Dorsal root ganglion axons do not respond to RGM but neogenin (a netrin-binding protein which can function as an RGM receptor) expression can spur RGM responsiveness. The RGM proteins are attached to the membrane by a GPI-anchor. Two members of this family, RGMa and RGMb, are expressed in the nervous system. RGMc, also known as Hemojuvelin, is a part of the signaling pathway activating hepcidin and works together with hepcidin to restrict iron absorption in the gut. Defects in the gene encoding for RGMc causes the autosomal recessive disorder juvenile hemochromatosis (JH).

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Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging.

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The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008].

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OPA1 is a 120kDa protein belonging to the dynamin family. The OPA1 gene has been localized to 3q29. The gene is targeted to mitochondria and is involved in mitochondrial biogenesis. Defects in OPA1 are a cause of optic atrophy type 1. OPA1 is mostly expressed in retina but can also be expressed in brain, testis, heart and skeletal muscle.

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There are eight COG proteins (COG1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that COG1 is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex.

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ATP-binding cassette (ABC) transporters are an evolutionarily conserved family of widely-expressed proteins that use ATP hydrolysis to catalyze the transport of various molecules across extracellular and intracellular membranes. Eukaryotic ABC transporters are largely responsible for trafficking hydrophobic compounds either within the cell as part of a metabolic process, outside the cell for transport to other organs, or for secretion from the body. The cholesterol-responsive transporter, ABCA7, maps to human chromosome 19 and mouse chromosome 10 and has been reported as a candidate regulator of ceramide transport in epidermal lipid reorganization. High expression levels of ABCA7 have been reported in myelolymphatic tissues, reticuloendothelial cells, peripheral leukocytes, thymus, spleen and bone marrow. This expression pattern of the two alternatively-spliced isoforms also indicates an involvement in lipid homeostasis in cells of the immune system, though the complete role of ABCA7 is not yet known. Full-length type I ABCA7 has shown plasma membrane localization, while the type II splicing variant has shown expression predominantly in the endoplasmic reticulum.

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Fyn is a membrane-associated, non-receptor protein tyrosine kinase approximately 59kDa, which belongs to the Src family of cytoplasmic tyrosine kinases. Fyn is very strongly similar to mouse Fyn, v-yes and c-src. Fyn is expressed predominately in tissues of neuronal and hematopoietic origin. Neuronal Fyn and hematopoietic Fyn differ at the junction of the SH2 and kinase domains due to tissue specific alternative splicing. Fyn has been shown to be involved in B cell and T cell activation as well as keratinocyte differentiation. In T cells, Fyn associates with the T-cell antigen receptor and Thy1.The unique N terminal domain of Fyn interacts with the CD3 and eta chains of the TcR. Fyn can bind to other proteins (p82 and p116) through its SH2 and SH3 domains, which may act as substrates or regulators of Fyn activity. Fyn is highly expressed in brain suggesting that it may have a role in the sensory nervous network and in myelination at early stages of CNS formation.

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May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription.Tissue specificity: Ubiquitously expressed. Expression is down-regulated in a variety of tumor types including breast, colon, prostate and rectal tumors, and is up-regulated in certain hepatic carcinomas.

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Selenium is an essential trace element that confers tolerance to toxicity arising through exposure to heavy metals or other reactive xenobiotics. Selenium exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. Both effects are attributed to selenium-binding proteins. Selenium binding protein 1 is down-regulated in lung adenocarcinoma, colorectal cander and ovarian cancer. It is two-fold upregulated in the brains of patients suffering from schizophrenia, and is therefore a biomarker for this disease.

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Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of these downstream effectors by MET leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation is associated with the morphogenetic effects while PI3K/AKT coordinates prosurvival effects. During embryonic development, MET signaling plays a role in gastrulation, development and migration of muscles and neuronal precursors, angiogenesis and kidney formation. In adults, participates in wound healing as well as organ regeneration and tissue remodeling. Promotes also differentiation and proliferation of hematopoietic cells. Acts as a receptor for Listeria internalin inlB, mediating entry of the pathogen into cells.

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Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis process by modulating PP2A activity.Tissue specificityExpressed in peripheral blood leukocytes, colon, small intestine, prostate, thymus, spleen, skeletal muscle, liver and kidney.

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Myotilin, a sarcomeric protein that is encoded by the gene mapping to human chromosome 5q31, binds to a-actinin and is localized in the Z-line of myofibrils. Myotilin is expressed in skeletal and cardiac muscle, and it co-localizes with a-actinin in the sarcomeric I-bands where it directly interacts with a-actinin. Defects in the myotilin gene are reported to cause a form of autosomal dominant limb-girdle muscular dystrophy (LGMD). Symptoms of adult onset LGMD are progressive weakness of the hip and shoulder girdles as well as a distinctive dysarthric pattern of speech. The muscle of affected individuals with LGMD shows degeneration of myofibers, variations in fiber size, fiber splitting, centrally located myonuclei and an enhanced number of autophagic vesicles.

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Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL.