118486 Results for: "Butelki+i+butle&pageNo=30"

Supplier: Bioss

Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both (By similarity).

Supplier: Bioss

Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins alpha-M/beta-2 and alpha-X/beta-2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin alpha-X/beta-2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin alpha-M/beta-2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin alpha-M/beta-2 is also a receptor for factor X. Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation.

Supplier: Bioss

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008].

Supplier: Bioss

CTBS is an evolutionarily conserved member of the glycosyl hydrolase 18 family of proteins. Localizing to the lysosome, CTBS plays a role in the degradation of asparagine-linked (Asn-linked) glycoproteins. Glycoproteins are translocated to lysosomes via endocytosis or autophagy where they are broken down by proteases and glycosidases. The catabolism of glycoproteins is an important step in the regular turnover of cellular contents and in maintaining the homeostasis of glycosylation. CTBS functions as a glycosidase that cleaves the reducing end GlcNAc from the core chitobiase unit of oligosaccharides. Before this reaction can occur, AGA (the lysosomal glycosylasparaginase) must first remove the Asn from the Asn-linked glycoprotein to expose the reducing end GlcNAc, thereby allowing CTBS to access the exposed moiety.

Supplier: Bioss

The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell.

Supplier: Bioss

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.

Supplier: Bioss

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. The LOC390637 gene product has been provisionally designated LOC390637 pending further characterization.

Supplier: Bioss

Has a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. Plays an important role in memory formation and synaptic plasticity in the hippocampus (By similarity). Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation. May play a role in membrane transport and/or integrin dependent signal transduction. May prevent premature elimination of red blood cells. May be involved in membrane permeability changes induced following virus infection.

Supplier: Bioss

ANXA9 may act as a low affinity receptor for acetylcholine and is expressed in the stratified squamous skin epithelium, but not in epithelia of other types (at protein level). ANXA9 is one of the target molecules recognized by auto in patients with pemphigus vulgaris, a rare, autoimmune skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.

Supplier: Bioss

Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.

Supplier: Bioss

FAM161B is a 647 amino acid protein that belongs to the FAM161 family. The gene that encodes FAM161B consists of approximately 16,413 bases and maps to human chromosome 14q24.3. Housing over 700 genes, chromosome 14 comprises nearly 3.5% of the human genome. Chromosome 14 encodes the Presenilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer’s disease. The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder α1-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction. An inversion of the long arm of chromosome 14 is thought to be involved in T-cell chronic lymphocytic leukemia (CLL), a cancer that affects T lymphocytes.

Supplier: Bioss

May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.

Supplier: Bioss

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.

Supplier: Bioss

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.

Supplier: Bioss

Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF.

Supplier: Bioss

Follicular dendritic cells are cells that facilitate antigen recognition by B cells in follicles. This kind of dendritic cell is not bone marrow derived and is not a kind of blood cell. It is purely a resident of the follicles of secondary lymphoid organs. B cells form germinal centers around follicular dendritic cells in lymphoid organs. Dendritic cells form from monocytes, white blood cells which circulate in the body and, depending on the right signal, can turn into dendritic cells or macrophages. The monocytes in turn are formed from stem cells in the bone marrow.In normal tissue this antibody identifies dendritic cells and a proportion of B lymphocytes. Evidence in pathological tissue and functional studies suggests it binds to an epitope expressed by antigen presenting cells. Within the macrophage/dendritic cell populations the epitope seen by RFD1 is coexpressed with RFD7 by a subset of cells that exhibit suppressive activity on T cell stimulation.

Supplier: Bioss

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.

Supplier: Bioss

ZNF268

Supplier: Bioss

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. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation. Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A.

Supplier: Bioss

TACC2 is a conserved family of centrosome and microtubule interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is thought to affect the progression of breast tumors. Expression of this gene is also induced by erythropoietin.

Supplier: Bioss

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.

Supplier: Bioss

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.

Supplier: Bioss

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.

Supplier: Bioss

The cadherins represent a family of Ca2+-dependent adhesion molecules that function to mediate cell to cell binding that is critical for the maintenance of structure and morphogenesis. Cadherins each contain a large extracellular domain at the N-terminus, which is characterized by a series of five homologous repeats, the most distal of which is thought to be responsible for binding specificity. The relatively short C-terminal intracellular domain interacts with a variety of cytoplasmic proteins, including ∫-catenin, to regulate cadherin function. The cadherin superfamily includes cadherins, protocadherins, desmogleins and desmocollins. FAT3 (FAT tumor suppressor homolog 3, also known as CDHF15 or CDHR10, is a 4,589 amino acid single-pass type I membrane protein expressed in ES cells, primitive neuroectoderm, fetal brain, infant brain, adult neural tissues and prostate. Containing thirty-three cadherin domains, four EGF-like domains and one laminin G-like domain, FAT3 may participate in the interactions between neurites derived from specific subsets of neurons during development.

Supplier: Bioss

May play an important role in the regulation of lymphoma cell growth. Interacts with a 16-kDa Leu-13 protein to form a complex possibly involved in signal transduction. May act as the viral receptor for HCV.

Supplier: Bioss

catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Supplier: Bioss

SYAP1 (synapse-associated protein 1) is a 352 amino acid protein that is ubiquitously expressed in adult tissues. SYAP1 contains one BSD domain which is a novel domain that is present in basal transcription factors, synapse-associated proteins and several hypothetical proteins. The BSD domain is characterized by three predicted alpha helices and by conserved tryptophan and phenylalanine residues, located at the C-terminus of the domain. The gene that encodes SYAP1 in humans is located on chromosome X. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.

Supplier: Bioss

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.

Supplier: Bioss

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.

Supplier: Bioss

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.