127977 Resultat för: "Bioss"

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Receptor for hyaluronic acid (HA). Mediates cell-cell and cell-matrix interactions through its affinity for HA, and possibly also through its affinity for other ligands such as osteopontin, collagens, and matrix metalloproteinases (MMPs). Adhesion with HA plays an important role in cell migration, tumor growth and progression. In cancer cells, may play an important role in invadopodia formation. Also involved in lymphocyte activation, recirculation and homing, and in hematopoiesis. Altered expression or dysfunction causes numerous pathogenic phenotypes. Great protein heterogeneity due to numerous alternative splicing and post-translational modification events.

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May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin).

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Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock (By similarity).

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MSK1 is a mitogen and stress activated protein kinase 1 which belongs to the AGC family of kinases and is related in structure to the ribosomal p70 S6 kinase subfamily. MSK1 can be activated by ERK1/2 and SAPK2/p38 MAP kinase. It is also known to be required for the phosphorylation of CREB, ATF1 H3 and HMG14 in response to mitogen and stress. Similar to RSK, MSK1 contains two kinase domains (N term and a C term). Once phosphorylated on Thr581 and Ser360 by ERK1/2 and SAPK2/p38, MSK1 autophosphorylate on at least 5 sites. Of these autophosphorylation sites Ser212 and Ser376 get phosphorylated by the C terminal kinase domain of MSK1 which is essential for the catalytic activity of the N terminal kinase domain.

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Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance.

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SORBS2 is an adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. It can form a complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1 or with AKT1 and PAK1, thus mediating AKT1-mediated activation of PAK1.

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Cystatin A and cystatin B (also designated PME, CST6, STFB, CPI-B, stefin B and liver thiol proteinase inhibitor) are thiol protease inhibitors that form complexes with papain and the cathepsins B, H, and L. Cystatin A, a cytoplasmic protein, is one of the precursor proteins of the cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Cystatin B protects against intracellular proteases leaking out of lysosomes and is primarily expressed in heart, liver and kidney.

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Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II. Controls proliferation, survival, and growth of developing pancreatic cells. Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells. Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis. Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response. Plays an important role during thymocyte development by regulating the expression of key nutrient receptors on the surface of pre-T cells and mediating Notch-induced cell growth and proliferative responses.

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Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for cell division. BCR E3 ubiquitin ligase complexes mediate the ubiquitination of target proteins.

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Microfibrillar-associated protein 1; MFAP1_HUMAN.

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Anti-DEPDC1 Rabbit Polyclonal Antibody

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GRAMD2 is a 354 amino acid single-pass membrane protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 15q23. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

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The assembly of very-low-density lipoproteins (VLDLs) in the secretory apparatus of the hepatocyte relies on the mobilization of triacylglycerol (TAG) from the cytosolic pool by lipolysis and re-esterification. However, some of the re-esterified TAG products are returned to the cytosolic pool in the liver, which protects vulnerable body tissues from excess lipotoxic non-esterified fatty acids in the plasma. Some of the lipases involved in this process include arylacetamide deacetylase (AADAC) and its related proteins AADACL1 and AADACL2. AADAC, a single pass type II membrane protein of the endoplasmic reticulum, is expressed in hepatocytes, intestinal mucosal cells, pancreas and adrenal gland. It plays an important role in the metabolic activation of arylamine substrates to ultimate carcinogens. AADACL1 hydrolyzes the metabolic intermediate 2-acetyl monoalkylglycerol, and its inactivation results in disruption of ether lipid metabolism in cancer cells and impaired cell migration and tumor growth.

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Mitochondrial ATP synthase is composed of two multi-subunit complexes that utilize an inner membrane electrochemical gradient to catalyze the synthesis of ATP during oxidative phosphorylation. The two multi-subunit complexes are designated F1 and F0, the former of which comprises the soluble catalytic core and the latter of which comprises the membrane-spanning proton channel of ATP synthase. F1 consists of five distinct subunits, designated ATP5A, ATP5B, ATP5C1, ATP5D and ATP5E, while F0 consists of ten subunits, designated ATP5H, ATP5G1, ATP5I, ATP5G2, ATP5J2, ATP5J, ATP5G3, ATP5S, ATP5F1 and ATP5L. ATP5B, also designated ATPMB, ATPSB or mitochondrial ATP synthetase, beta subunit, is a 529 amino acid protein that localizes to the mitochondrial membrane and exists as a subunit of the F0 complex. ATP5B is encoded by a nuclear gene and assembled with the other subunits encoded by both mitochondrial and nuclear genes. The ATP5B gene is activated by members of the Ets family of transcription factors, suggesting that Ets transcription factors are involved in the enhanced expression of the ATP5B gene in highly proliferating cells and in the coordinate transcription of nuclear genes for mitochondrial proteins. ATP5B mRNA levels vary among species through transcriptional control with high expression levels in heart, lower levels in skeletal muscle and the lowest levels in liver and kidney.

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Nudel is important for normal cortical development. It is invovled in microtubule organization, nuclear translocation, and neuronal positioning in concert with various other factors (including Lis1, Pafah1b1, Pahfah1b2, dynein, dynorphin A and cdk5). Western blot analysis of mouse tissues shows abundant expression of Nudel in brain and testis, and much lower expression in heart, liver, kidney, and skeletal muscle. In fractionated rat brain, Nudel and Lis1 are both found in fractions enriched for postsynaptic density proteins. Immunostaining of embryonic day 18 mouse brain sections revealed staining of migrating neurons and thalamocortical axons of the intermediate zone of the developing cerebral cortex, as well as several other developing brain regions. The deduced protein contains 345 amino acids and has a calculated molecular mass of 38.4 kDa. It has a coiled coil motif (residues 19 to 201), followed by several potential phosphorylation sites for casein kinase II, protein kinase C or CDK5. Nudel shares about 50% identity with mouse and human NUDE proteins.

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Glutathione (GSH) is a tripeptide antioxidant that reduces disulfide bonds between cytoplasmic proteins. The constitutive enzyme glutathione reductase transforms glutathione into its reduced state, which ultimately can provide a measure of cellular toxicity. GSTCD (glutathione S-transferase, C-terminal domain containing) is a 633 amino acid protein belonging to the GSTCD family and contains one GST C-terminal domain. The gene encoding GSTCD maps to human chromosome 4, which represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

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GPR120, a member of the rhodopsin family of G protein-coupled receptors (GPCRs), is a 377 amino acid protein which is expressed in the intestine. GPR120 is a receptor for unsaturated long-chain FFAs (free fatty acids). FFAs act as signaling molecules and are an important energy source. They also employ various physiological responses through their GPCRs. One such response occurs when dietary FFAs stimulate GPR120. This stimulation promotes the secretion of glucagon-like peptide 1 (GLP-1) in vivo and in vitro. GLP-1 belongs to the class of molecules known as the incretins, which are associated with insulin secreted from the pancreas as a result of food intake. GLP-1 also inhibits glucagon and gastric acid secretion and gastric emptying. Consequently, the role of GPR120 in the secretion of GLP-1 is critical in the treatment of diabetes.

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Serine/threonine kinase that plays an essential role in regulating inflammatory responses to viral infection, through the activation of the type I IFN, NF-kappa-B and STAT signaling. Also involved in TNFA and inflammatory cytokines, like Interleukin-1, signaling. Following activation of viral RNA sensors, such as RIG-I-like receptors, associates with DDX3X and phosphorylates interferon regulatory factors (IRFs), IRF3 and IRF7, as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRF3 leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNB. In order to establish such an antiviral state, IKBKE forms several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including IPS1/MAVS, TANK, AZI2/NAP1 or TBKBP1/SINTBAD can be recruited to the IKBKE-containing-complexes. Activated by polyubiquitination in response to TNFA and interleukin-1, regulates the NF-kappa-B signaling pathway through, at least, the phosphorylation of CYLD. Phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. In addition, is also required for the induction of a subset of ISGs which displays antiviral activity, may be through the phosphorylation of STAT1 at 'Ser-708'. Phosphorylation of STAT1 at 'Ser-708' seems also to promote the assembly and DNA binding of ISGF3 (STAT1:STAT2:IRF9) complexes compared to GAF (STAT1:STAT1) complexes, in this way regulating the balance between type I and type II IFN responses. Protects cells against DNA damage-induced cell death. Also plays an important role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Phosphorylates AKT1.

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Major histocompatibility complex (MHC) molecules form an integral part of the immune response system. They are cell-surface receptors that bind peptides and present them to T lymphocytes. Human leukocyte antigens (HLAs) are polymorphic members of the MHC family that are specifically involved in the presentation of antigens to the T cell receptor. There are two classes of HLA antigens: class I (HLA-A, HLA-B and HLA-C) and class II (HLA-D). Class I molecules are expressed in nearly all cells and play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum. The differential structural properties of MHC class I and class II molecules account for their respective roles in activating different populations of T lymphocytes. HLA-B encodes a membrane anchored heavy chain which hetero-dimerizes with a light chain (∫-2-Microglobulin) to form MHC-I. Polymorphisms yield hundreds of HLA-B alleles. The HLA-B27 allele appears with increased frequency in uveitis patients.

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FAM50A (Family with sequence similarity 50, member A) is a basic protein containing a nuclear localization signal. Its specifc function is unknown. It may be a DNA-binding protein or transcriptional factor.

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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 characterized 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 FAM154A gene product has been provisionally designated FAM154A pending further characterization.

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Protein kinase C (PKC) is a family of serine and threonine specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. This kinase can be activated rapidly by the agonists of G protein coupled receptors. It resides in both cytoplasm and nucleus, and its nuclear accumulation is found to be dramatically enhanced in response to its activation. This kinase can also be activated after B cell antigen receptor (BCR) engagement, which requires intact phopholipase C gamma and the involvement of other PKC family members.

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Members of the protein kinase C (PKC) family function in many extracellular receptor-mediated signal transduction pathways. See PRKCA (MIM 176960) for further background information. The PRKCM gene encodes a cytosolic serine-threonine kinase that binds to the trans-Golgi network and regulates the fission of transport carriers specifically destined to the cell surface.[supplied by OMIM]

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Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia.

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Microtubules, polymers of alpha and beta tubulin subunits,form the mitotic spindle of a dividing cell and help to organizemembranous organelles during interphase. Katanin is a heterodimerthat consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDaaccessory protein (p80 subunit B 1). The p60 subunit acts to severand disassemble microtubules, while the p80 subunit targets theenzyme to the centrosome. Katanin is a member of the AAA family ofATPases.

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Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G-protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction.

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Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.

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The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012].

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This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012].

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Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1.Tissue specificity: Highly expressed in placenta, lung, kidney, pancreas and ovary. Expressed at intermediate level in thymus, testes and colon.