41246 Results for: "Iodic+acid&pageNo=67"

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The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene.

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The Golgi apparatus is a highly complex organelle comprised of a stack of cisternal membranes on the secretory pathway from the ER to the cell surface. The structure is maintained by an exoskeleton or Golgi matrix constructed from a family of coiled-coil protein, the golgins and other peripheral membrane components such as GRASP55 and GRASP65 (1). GRASP55 (Golgi reassembly stacking protien or p59) is a component of the Golgi stacking machinery. GRASP55 is highly homologous to GRASP65 and contains two PDZ domains. GRASP55 is myristoylated and palmitoylated. Unlike GRASP65, GRASP55 does not have detectable binding with the vesicle docking protein GM130 and is located on the medial-Golgi rather than cis-Golgi. Both GRASP55 and GRASP65 function in the stacking of Golgi Cisternae (2,3). The novel coiled-coil protein golgin 45 interacts with GRASP55 and the GTP form of Rab 2, suggesting that GRASP55 and golgin 45 form a Rab 2 effector complex on medial-Golgi essential for normal protein transport and Golgi structure (4). ERK2 directly phosphorylates GRASP55, which is phosphorylated in mitotic cells, suggesting that mitogen-activated protein kinase kinase (MKK)/ERK pathway phosphorylates the Golgi during mitosis (5).

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The mammalian FXYD family maintains Na+ and K+ gradients between the intracellular and extracellular milieus of cells in processes such as renal Na+-reabsorption, muscle contraction and neuronal excitability. FXYDs are single-span membrane proteins that share a 35 amino acid signature domain, beginning with the sequence PFXYD and containing seven invariant and six conserved amino acids. Members of the FXYD family include FXYD1 (PLM, phospholemman), FXYD2 (the g subunit of the Na+/K+-ATPase), FXYD3 (Mat8, mammary tumor protein), FXYD4 (CHIF) and FXYD5 (RIC). FXYD6 is expressed in various epithelial cells bordering the endolymph space and in the auditory neurons. FXYD6 co-localizes with Na+/K+-ATPase in the stria vascularis and can be co-immunoprecipitated with Na+/K+-ATPase. After expression, FXYD6 associates with Na+/K+-ATPase alpha1-beta1 and alpha1-beta2 isozymes, which are preferentially expressed in different regions of the inner ear and also with gastric and non-gastric H+/K+-ATPase.

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Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development.

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Chromosome 10 contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome. 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. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious. The KIAA1279 gene product has been provisionally designated KIAA1279 pending further characterization.

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May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.

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Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8 participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brain development. Binds the endoplasmic reticulum resident receptor-associated protein (RAP). Binds dimers of beta 2-glycoprotein I and may be involved in the suppression of platelet aggregation in the vasculature. Highly expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation. May also function as an endocytic receptor.

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Heterogeneous nuclear ribonucleoproteins (hnRNPs) are thought to be involved in pre-mRNA processing. However, its role in the regulation of gene expression is as yet poorly understood. Proteins of the heterogeneous nuclear ribonucleoparticles (hnRNP) family form a structurally diverse group of RNA binding proteins implicated in various functions. Recently, hnRNP proteins have been shown to hinder communication between factors bound to different splice sites. Conversely, several reports have described a positive role for some hnRNP proteins in pre-mRNA splicing. hnRNP-U, also termed scaffold attachment factor A (SAF-A), binds to pre-mRNA and nuclear matrix/scaffold attachment region DNA elements.

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Sphingosine-1-phosphate (SPP) is a novel lipid messenger with both intracellular and extracellular functions. Intracellularly, it regulates proliferation and survival, and extracellularly, it is a ligand for EDG1 (MIM 601974). Various stimuli increase cellular levels of SPP by activation of sphingosine kinase (SPHK), the enzyme that catalyzes the phosphorylation of sphingosine. Competitive inhibitors of SPHK block formation of SPP and selectively inhibit cellular proliferation induced by a variety of factors, including platelet-derived growth factor (e.g., MIM 173430) and serum.[supplied by OMIM].

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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 C1orf190 gene product has been provisionally designated C1orf190 pending further characterization.

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Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity).

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Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor.

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E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1. Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells.

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IF3EI.

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The Alpha-, Beta-, Gamma-, and Delta -catenins are proteins that bind to the highly conserved, intracellular cytoplasmic tail of E-cadherin. Together, the catenin/cadherin complexes play an important role mediating cellular adhesion. Alpha-catenin interacts with E-cadherin associated protein and also associates with other members of the cadherin family, such as N-cadherin and P-cadherin. Beta-catenin associates with the cytoplasmic portion of E-cadherin, which is necessary for the function of E-cadherin as an adhesion molecule. Beta-catenin also complexes with the tumor suppressor protein APC. Gamma-catenin, also known as plakoglobin, is a protein that binds ?catenin and N-cadherin. Gamma-catenin interacts with presenilin 1 and is expressed in the brain. The gene encoding Gamma-catenin maps to human chromosome 5p15.2. A hemizygous loss of the gene encoding Gamma-catenin leads to the mental retardation associated with Cri-du-Chat syndrome. In addition, the transmembrane phosphatase PTPm associates with catenin/ cadherin complexes and may regulate complex signaling.

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Belongs to the intermediate filament family.

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MAWDBP (MAWD binding protein), also known as PBLD (phenazine biosynthesis-like protein domain containing) or MAWBP, is a 288 amino acid protein that belongs to the phenazine biosynthesis-like protein (PhzF) family. It has been suggested that MAWDBP is the only representative of the PhzF family in the human genome. Expressed in most tissues, MAWDBP is a WD-40 repeat-containing β-propeller protein believed to participate in the MAPK signaling pathway. Involved in multiple basic cellular functions, expression of MAWDBP is elevated in several disease processes, including insulin resistance, folate deficiency and hypotension. It is thought that MAWDBP may also be involved in carcinogenesis.

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Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role in regulating growth and differentiation of early B-lineage cells.

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This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].

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The multiprotein exon junction complex (EJC) is deposited on mRNAs upstream of exon–exon junctions as a consequence of pre-mRNA splicing. In mammalian cells, this complex serves as a key modulator of spliced mRNA metabolism. MLN51 is a nucleocytoplasmic shuttling protein that is overexpressed in breast cancer. The function of MLN51 in mammals remains elusive. Its fly homolog, named barentsz, as well as the proteins mago nashi and tsunagi have been shown to be required for proper oskar mRNA localization to the posterior pole of the oocyte. Magoh and Y14, the human homologs of mago nashi and tsunagi, are core components of the exon junction complex (EJC). The EJC is assembled on spliced mRNAs and plays important roles in post-splicing events including mRNA export, nonsense-mediated mRNA decay, and translation. Human MLN51 is an RNA-binding protein present in ribonucleo-protein complexes.

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NEEP21, also known as Brain neuron cytoplasmic protein 1, NSG1 (neuron-specific proteins family member 1), P21 or D4S234E, is a single pass type II membrane protein belonging to the NSG family. It is highly expressed during neuronal maturation but its expression is downregulated in adult tissues. NEEP21 predominantly localizes to Rab 4-positive early endosomes in the somatodendritic neuronal compartment and is essential for proper receptor sorting and recycling in neurons. It associates with GRIP1 and GluR-2 and mediates the surface expression of GluR-2. When this interaction is interrupted, GluR-2 accumulates in early endosomes and leads to changes in evoked synaptic current properties. In addition, NEEP21 forms a complex with the SNARE protein, Syntaxin 13 (also known as Syntaxin 12), and participates in the recycling of transferrin receptors (TFRs) and NTR2 (neurotensin receptor 2).

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MEK5 is a dual specificity protein kinase belonging to thr Ser/Thr protein kinase family, (MAP kinase kinase family). It is activated by phosphorylation on Ser/Thr by MAP kinase kinases and interacts specifically with ERK5, and not with another MAP kinase like P38. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). It is not phosphorylated by RAFA, RAFB or RAFC and it may interact with GTPases such as CDC42. The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. MEK5 is expressed in many adult tissues and is most abundant in heart and skeletal muscle.

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The Ras-related superfamily of guanine nucleotide binding proteins includes the R-Ras, Rap, Ral/Rec and Rho/Rab subfamilies. Increasing data suggests an important role for Rab proteins in either endocytosis or in biosynthetic protein transport. The process of transporting newly synthesized proteins from the endoplasmic reticulum to various stacks of the Golgi complex and to secretory vesicles involves the movement of carrier vesicles and requires Rab protein function. Rab proteins are also an integral part of endocytic pathways. Rab 23, also known as HSPC137, is a 237 amino acid member of the Rab family of proteins and localizes to the cytoplasmic side of the cell membrane. Rab 23 is believed to play a role in intracellular protein transportation and signal transduction mediated by small GTPases. Mutations in the gene encoding Rab 23 may result in Carpenter syndrome, also known as ACPS2 (acrocephalopolysyndactyly type 2), a condition characterized by obesity, cardiac defects, polysyndactyly and craniosynostosis.

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Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

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Unrip is part of the SMN complex that plays a role in snRNP assembly in the cytoplasm and pre mRNA splicing in the nucleus. Unrip interacts directly with Gemin 6 and Gemin 7 in the SMN complex. It is associated with the complex in the cytoplasm but not in the nucleus and thus is thought to play a role in it's subcellular localisation.It is a ubiquitously expressed protein that acts as an inhibitor of TGF-beta signaling and an important regulator of cell proliferation. Stable expression of STRAP results in activation of the mitogen-activated protein kinase/extracellular signal-regulated kinase pathway and in down-regulation of the cyclin-dependent kinase inhibitor p21 (Cip1), which results in retinoblastoma protein hyperphosphorylation. Upregulation of STRAP might play a role in tumor development as an early event for colorectal cancers. It is the first component of the U snRNP assembly machinery that associates with SMN complex in a compartment-specific way and plays a crucial role in the intracellular distribution of SMN1.

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Lymphotactin is a chemokine-like molecule produced selectively, if not exclusively, by activated CD8+ T cells (1). Lymphotactin is a C-type member of the chemokine superfamily, but retains only the 2nd and 4th of the four cysteine residues conserved in other chemokines (3,4). In normal tissues, lymphotactin is expressed at high levels in spleen, thymus, small intestine, and peripheral blood leukocytes, as well as at low levels in lung, prostate, and ovary (2). Lymphotactin is chemotactic for CD4+ and CD8+ T cells but not for monocytes, and induces a rise in intracellular calcium in peripheral blood lymphocytes (1). The specific receptor for lymphotactin is XCR1, a member of the G protein-coupled receptor family (5). The gene which encodes lymphotactin maps to human chromosome 1q23 (1,2).

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The pleiotropic IL3 (Interleukin 3) is a 15kDa cytokine that is primarily secreted by activated T lymphocytes and stimulates the proliferation and differentiation of hematopoietic cells. IL3 acts in hematopoiesis by controlling the production, differentiation, and function of two related white cell populations of the blood, the granulocytes and the monocytes/macrophages. It induces granulocytes, macrophages, mast cells, stem cells, erythroid cells, eosinophils and megakaryocytes and is expressed by activated T cells, mast cells, and natural killer cells. IL3 not only supports growth of both pluripotent stem cells and the more differentiated committed progenitors, but it also stimulates the functional activity of some fully differentiated cells. IL3 has also been shown to protect mast cells from undergoing apoptosis.

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Ubiquitin like proteins fall into two classes: the first class, ubiquitin-like modifiers (UBLs) function as modifiers in a manner analogous to that of ubiquitin. Examples of UBLs are SUMO, Rub1 (also called Nedd8), Apg12 and Hub1. Proteins of the second class include Parkin, RAD23 and DSK2, are designated ubiquitin domain proteins (UDPs). These proteins contain domains that are related to ubiquitin but are otherwise unrelated to each other. In contrast to UBLs, UDPs are not proteolytically processed or conjugated to other proteins. Rub1 and the corresponding human homolog NEDD8 are activated by the E1 ubiquitin activating enzyme UBA2, that forms isopeptide linkages between thio esters. NEDD8 shows 80% homology to ubiquitin. The best known targets of Rub1 modification are members of the cullin family. Cullins are subunits of an E3 ubiquitin ligase complex called the Skp1 /Cul1/Cdc53 F box (SCF). The SCF promotes transfer of ubiquitin from a ubiquitin conjugating enzyme (E2) to the target protein. Rub1 modification may regulate SCF function or localization.

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Neurotensin (NT) initiates an intracellular response by interacting with the G protein-coupled receptors NTR1 (NTS1 receptor, high affinity NTR) and NTR2 (NTS2 receptor, levocabastine-sensitive neurotensin receptor), and the type I receptor NTR3 (NTS3 receptor, sortilin-1, Gp95). NT has a wide distribution in regions of the brain and in peripheral tissues where NT receptors can contribute to hypotension, hyperglycemia, hypothermia, antinociception and regulation of intestinal motility and secretion. HL-60 cells express NTR1, which can couple to Gq, Gi/o, or Gs. Alternative splicing of rat NTR2 can generate a 5-transmembrane domain variant isoform that is co-expressed with the full-length NTR2 throughout the brain and spinal cord. NTR3 activation in the murine microglial cell line N11 induces MIP-2, MCP-1, IL-1beta and TNF?in an ERK1/2 and Akt kinase-dependent manner.

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BECN1L1 belongs to the beclin family and may play a role in autophagy and antiviral host defense.