142775 Results for: "4,4\'-Bipyridyl&pageNo=30"

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Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. Integrin alpha-4/beta-1 is a receptor for VCAM1. It recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-9/beta-1 is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. Integrin alpha-3/beta-1 is a receptor for epiligrin, thrombospondin and CSPG4. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Integrin alpha-V/beta-1 is a receptor for vitronectin. Beta-1 integrins recognize the sequence R-G-D in a wide array of ligands. Isoform beta-1B interferes with isoform beta-1A resulting in a dominant negative effect on cell adhesion and migration (in vitro). In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.

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Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity. Mediates Ras activation through G(s)-alpha- and cAMP-mediated signaling.

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The Golgi apparatus consists of a series of stacked, flattened membrane stacks called cisternae that are involved in the transport of lipids and proteins in the secretory pathway and are important for Golgi-microtubule interaction. Golgin 160 is a 1,498 amino acid protein that localizes to both the cytoplasm and to the Golgi apparatus and contains a series of coiled-coil domains. Expressed in a variety of tissues, including heart, liver, testis, kidney, lung and salivary gland, golgin 160 functions as a homodimer that interacts with GOLGA7 and is thought to be involved in maintaining Golgi structure and may play a role in nuclear transport and Golgi apparatus localization. Multiple isoforms of golgin 160 exist due to alternative splicing events.

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Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.

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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.

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This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins.

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Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosines residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway.

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Beta-defensin 2 (BD-2) also known as skin-antimicrobial peptide 1 (SAP1) is a peptide that is encoded by the DEFB4 (defensin, beta 4) gene. Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. Beta-defensin 2 is an antibiotic peptide which is locally regulated by inflammation.

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Contactin 2 is a neuronal cell adhesion molecule (CAM) that influences the formation of axon connections in the developing nervous system. Contactin 2 is a member of the immunoglobulin superfamily (IgSF) and contains a glycosylphosphatidylinositol-anchor, six immunogobulin (Ig)-like and four Fibronectin type III (FNIII)-like domains. Contactin 2 is expressed predominantly during neural development on the cell membrane of axons in nerve fiber tracts in order to guide commissural axons without promoting their growth. Contactin 2 binds with NgCAM in the plane of the same membrane (cis-binding). The Contactin 2 heterophilic (Contactin 2/NgCAM and Contactin 2/NrCAM) binding sites are localized to the first four Ig domains. The Contactin 2 homophilic (Contactin 2/Contactin 2) binding site is localized to the FNIII domain.

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NPR2L is homologous to yeast nitrogen permease and is a candidate tumor suppressor, being a negative regulator of cell cycle. Most abundant in skeletal muscle, followed by brain, liver, and pancreas, with lower amounts in lung, kidney, placenta, and heart. Expressed in most lung cancer cell lines tested. There are two isoforms, produced by alternative splicing.

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Effector of integrin and growth factor signaling, coupling surface receptors to downstream signaling molecules involved in the regulation of cell survival, cell proliferation and cell differentiation. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway.

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Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008].

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Rab proteins, a family of Ras-related small GTP-binding proteins, play a key role in regulating intracellular vesicle trafficking (1?). Rab GDP dissociation inhibitor (Rab GDI or GDI2) forms a soluble complex with Rab proteins and thereby prevents the exchange of GDP for GTP (1?). In mammals, there exist two major isoforms, Rab GDI alpha (also known as XAP-4) and Rab GDI beta (1,4). While the mammalian Rab GDI beta-genes are ubiquitously expressed, the Rab GDI ?genes are predominantly brain-specific (1). Since it is expressed predominantly in neural and sensory tissues, Rab GDI a may serve a specific function in neural signal transmission (5). The gene sequences for the Rab GDI proteins are extremely conserved in evolution, with substantial homology preserved across three eukaryotic kingdoms (5).

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ZA20D3 is a zinc-finger protein located on chromosome 15. It is associated with PRK1.

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Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. This activity requires Tyr-dephosphorylation and association with the endoplasmic reticulum.

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Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.

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Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

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GLT25D1 is a 622 amino acid protein that localizes to the lumen of the endoplasmic reticulum. Ubiquitously expressed with higher levels in placenta, heart, lung and spleen, GLT25D1 is a member of the glycosyltransferase 25 family. The beta-galactosyltransferase activity of GLT25D1 allows the transfer of beta-galactose to hydroxylysine residues of collagen. GLT25D1 is considered an important target for investigating the biological significance of collagen glycosylation and the importance of posttranslational modification in the etiology of connective tissue disorders. The gene encoding GLT25D1 is located on human chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes.

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Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

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Claudin 1-8 proteins are a family of transmembrane proteins associated with tight junctions. Tight junctions are specialized regions of cell to cell contact made up of network of strands that act as a molecular gasket for preventing the leakage of ions, water etc. between cells. They are abundant in luminal epithelial sheets where they maintain epithelial cell polarity. Different tissues exhibit different Claudin composition.

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Caspase 2 has a positive and a negative role in the regulation of the apoptotic process. Overexpression of the full length Caspase 2 (Nedd2/Ich1) mRNA in some cell types results in apoptosis, whereas overexpression of an alternative Caspase 2 splice variant suppresses apoptosis induced by serum withdrawal. Caspase 2 may be activated in vitro by Caspase 1, Caspase 3 and the neutral serine protease granzyme B which is stored in the specialized lytic granules of cytotoxic lymphocytes.

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Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis throught transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2.

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This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene.

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Human reproduction is controlled by the hypothalaic-pituitary gonadal axis laid down early in fetal development. Gonadotropin releasing hormone (GnRH), also known as GnRH-associated peptide, luteinizing hormone releasing hormone (LHRH), luliberin or gonadorelin, is a decapeptide that is an important molecule in the hypothalamic-pituitary-gonadal axis control circuit. GnRH is produced by hypothalamic neurons and secreted in a pulsatile manner into the capillary plexus of the medianeminence. GnRH affects the release of lutenizing hormone and follicle stimulating hormone from gonadotropic cells in the anterior pituitary. In addition to hypothalamic GnRH (GnRH I), a second GnRH form (GnRH II) functions primarily in the midbrain. GnRH is expressed in the acrosomal region of human sperm and in the anterior pituitary tissue and cancer cells. Unlike GnRH I, GnRH II is highly expressed outside the brain, particularly in the kidney, bone marrow and prostate, suggesting that it may have multiple functions. GnRH binds to a specific G protein-coupled receptor in the pituitary to regulate synthesis and secretion of gonadotropins.

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HIBADH is a 336 amino acid mitochondrial enzyme that catalyses the NAD+-dependent, reversible oxidisation of 3-Hydroxyisobutyrate to methylmalonate semialdehyde, an intermediate of valine catabolism. The enzyme functions as a homodimer between a pH of 7,0 and 10,0, with optimal activity between 8,8 and 9,0. It was previously hypothesised that defects in the gene encoding HIBADH may be the cause of 3-Hydroxyisobutyric aciduria, a rare disorder that is characterised by a variety of clinical manifestations such as neurodevelopmental problems and dysmorphic features. However, it was shown that HIBADH activity was equal in patients with 3-Hydroxyisobutyric aciduria as compared with controls.

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Cell adhesion molecules (CAMs) influence cell growth, differentiation, embryogenesis, immune response and cancer metastasis by networking information from the extracellular matrix to the cell. The four major families of cell adhesion molecules are immunoglobulin (Ig) superfamily (calcium-independent transmembrane glycoproteins), integrins (transmembrane non-covalently linked heterodimers of Alpha and Beta subunits), calcium-dependent cadherins and divalent cation-dependent selectins. Regulation of neuronal synaptic adhesion by CAMs has proven important for learning and memory. Proper embryonic morphogenic development is also heavily dependent on the regulation of cell adhesion molecules. Neurotrimin (hNT) is a neural cell adhesion molecule localizing to the cell membrane, where it acts as a lipid-anchor. Neurotrimin belongs to the IgLON family of proteins, a member of the larger immunoglobulin superfamily.

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MRas is a member of the RAS superfamily of GTP-binding proteins which are membrane-anchored, intracellular signal transducers responsible for a variety of normal cellular functions. They are oncogenically activated in a significant fraction of tumors. MRas participates in reorganisation of actin cytoskeleton. It is also involved in focal adhesion and can activate MAPK signalling.

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Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling.

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Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis. Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression. Is involved in adipocyte differentiation. Isoform 1 is recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol.

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Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis. Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression. Is involved in adipocyte differentiation. Isoform 1 is recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol.