110579 Results for: "4-Iodosalicylic+acid&pageNo=30"

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Plexin A2 is a coreceptor for SEMA3A and is necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. This coreceptor plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin in which the plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm.

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Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14. PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels. Isoform 2: Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.

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Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf12 gene product has been provisionally designated C8orf12 pending further characterisation.

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Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation.

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Cytochrome C Oxidase subunits I, II and III form the functional core of the enzyme complex.Defects in Cytochrome C Oxidase subunits III are a cause of Leber hereditary optic neuropathy (LHON) and cytochrome c oxidase deficiency (COX deficiency). Defects in Cytochrome C Oxidase subunits III are also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and recurrent myoglobinuria.

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Stanniocalcin 1 (STC1) and stanniocalcin 2 (STC2) are mammalian peptide hormones that were previously considered to be present only in bony fish, where they are involved in calcium homeostasis. STC1 plays a role in calcium and phosphate homoeostasis and is phosphorylated in vitro by protein kinase C, and STC2 is phosphorylated in vitro by casein kinase II (CK2). A human fibrosarcoma cell line, HT1080, expresses both STC1 and STC2 as secreted phosphoproteins in vivo, with STC2 being phosphorylated by an ecto-CK2-like enzyme. STC1 and STC2 have opposite effects on calcium and phosphate homeostasis, namely anti-hypercalcemic and anti-hypocalcemic actions, respectively. STC1 and STC2 are detected in human adrenal tumors, such as pheochromocytoma, differentiated neuroblastoma aldosterone-producing adenoma, and in cultured adrenal tumor cells (rat pheochromocytoma PC-12 cells and human neuroblastoma NB-1 cells).

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CAPD2 is a regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condensed chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. It may target the condensin complex to DNA via its C-terminal domain (referenced from Swissprot).

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Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration.

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IFI27.

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Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility.

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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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Cleaves the membrane-bound precursor of TNF-alpha at '76-Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP). Contributes to the normal cleavage of the cellular prion protein. Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity. Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis. Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form. Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B. May regulate the EFNA5-EPHA3 signaling.

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The organic anion transporter family of proteins mediate hepatic uptake of cardiac glycosides. OATP-D is a 710 amino acid member of the organic anion transporter protein family. As a multi-pass membrane protein, OATP-D mediates the Na+-independent transport of vasopressin, prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II and other organic anions, but not estrone-3-sulfate, DPDPE, taurocholate, DHEAS or digoxin. OATP-D is ubiquitously expressed with highest levels present in leukocytes and spleen. OATP-D is expressed as four isoforms produced by alternative splicing events.

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TMEM16C is a 981 amino acid multi-pass membrane protein that is encoded by a gene which maps to chromosome 11. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations, while Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

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The homeobox DNA-binding domain is a 60 amino acid motif that is conserved among many species and functions to bind DNA via a helix-turn-helix structure, thereby playing a role in transcriptional regulation and in the control of gene expression. MIXL1 (Mix1 homeobox-like 1), also known as MIXL, is a 232 amino acid protein that localizes to the nucleus and contains one homeobox DNA-binding domain. Expressed in lymph tissues, MIXL1 functions as a transcription factor that plays an essential role in axial mesendoderm morphogenesis and endoderm formation and is also required for cellular differentiation during blood development. Additionally, MIXL1 is involved in maturation of heart and gut tissue during embryogenesis and may also act as a negative regulator of brachyury expression. Overexpression of MIXL1 is associated with non-Hodgkin and Hodgkin lymphomas, suggesting a role in carcinogenesis.

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Required for renal tubular integrity.Tissue specificity: Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma.

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Phosphoinositide-3-kinase (PI3K) that phosphorylates PftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Have a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Have important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration.

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GHRH-R is a seven transmembrane domain protein that localizes to the somatotroph of the pituitary. GHRH-R plays an important role in growth and acts as a high-affinity receptor for GHRH. Binding of GHRH leads to the coupling of GHRH-R to G-protein which stimulates increased adenylyl cyclase activity and the accumulation of cAMP leading to the synthesis and release of growth hormone and somatotroph proliferation. In addition, this signalling pathway may have direct action in fetal/placental development, reproduction and immune function. GHRH and GHRH-R may also play a role in the regulation of non-rapid eye movement sleep (NREMS). The expression of GHRH-R is dependent on the presence of the POU domain factor Pit-1. Mutations in the gene encoding this protein can result in isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, and anterior pituitary hypoplasia (APH).

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Plectin interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the crosslinking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics.

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No data available.

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Probable transporter involved in lipid homeostasis.

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Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins. Necessary for activation of the CDC28 kinase.

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DIP2A, also known as DIP2, is a 1571 amino acid nuclear protein. It is one of three human homologs (DIP2A, DIP2B and DIP2C) of the Drosophila dip2 (disconnected-interacting protein 2) protein. In Drosophila, dip2 interacts with disco, a protein required for neuronal connections in the visual systems of larvae and adults. The closest vertebrate homologs to disco are the basonuclin genes. In mice, DIP2 homologs show restricted expression to the brain. This suggests that, similar to the function of Drosophila dip2, vertebrate DIP2 homologs may play a role in the development of the nervous system. Expressed ubiquitously with highest expression in the brain, DIP2A is thought to function in signaling throughout the central nervous system by providing positional clues for axon patterning and pathfinding. Four isoforms of DIP2A exist due to alternative splicing events.

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Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.

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The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010].

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Cerebellin (CER), which was originally isolated from rat cerebellum, is a hexadecapeptide derived from a larger precursor Cerebellin 1, also designated precerebellin 1 or Cbln1. Four propeptides, Cerebellin 1, Cerebellin 2 (Cbln2), Cerebellin 3 (Cbln3), and Cerebellin 4 (Cbln4), comprise the precerebellin subfamily within the C1q protein family. Cerebellin family members act as transneuronal regulators of synapse development and synaptic plasticity in various brain regions. CER and it metabolite des-Ser1-cerebellin are also expressed in several extra-cerebellar tissues, including adrenal gland. Cerebellin 1, 2 and 3 assemble into homomeric and heteromeric complexes, thereby influencing each other’s degradation and secretion. Cerebellin 3 is not able to form homomeric complexes, and can only be secreted upon forming a heteromeric complex with Cerebellin 1. Decreased concentrations of CER has been found in the brain of patients with olivopontocerebellar atrophy (OPCA) and Shy-Drager syndrome, suggesting a role for CER in the pathology of these diseases.

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Gross cystic disease is a common premenopausal disorder in which gross cysts are the predominant pathologic lesion. It is characterized by production of a fluid secretion which accumulates in the breast cysts. Gross cystic disease fluid is a pathologic secretion from breast composed of several glycoproteins, including a unique 15 kDa monomer protein, GCDFP 15. The cells within the body that produce GCDFP 15 appear to be restricted primarily to those with apocrine function. Studies have found GCDFP 15 to be a highly specific and sensitive marker for breast cancer.

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Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML.

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Novel nuclear protein 1 (NNP-1), also known as RRP1-like protein or Nucleolar protein Nop52, is a 461 amino acid protein belonging to the RRP1 family. Localized to the nucleolus, NNP-1 has simian virus 40-type and bipartite nuclear localization signals and four coiled-coil domains within its C-terminal region. NNP-1 has been found to play an important role in the generation of 28S rRNA in the late processing steps of ribosome biogenesis. At the end of mitosis, nucleolar proteins assemble in a sequential order during the rebuilding of the nucleolus. NNP-1 assembles after Fibrillarin and C23, and simultaneously with B23 and POP1 in the prenucleolar body pathway.

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Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of posttermination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. May favor virus entry in case of infection with herpes simplex virus 1 (HSV1) or herpes simplex virus 2 (HSV2).