33353 Results for: "Provette+per+immunologia&pageNo=67"

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Members of the leucine-rich repeat family includes LRCH1, LRCH2, LRCH3 and LRCH4. All family members contain one calponin-homology domain and nine leucine-rich repeats. The best characterized leucine-rich repeat family member is LRCH4, which is suggested to be involved in ligand binding in the brain, with expression observed primarily in the hippocampus. As a cell adhesion molecule and signal receptor, LRCH4 may play an important role in maintenance of hippocampus-dependent memories, with defects in the gene possibly contributing to a loss of long-term memory. The gene encoding LRCH3 maps to human chromosome 3, which spans 200 million base pairs and encodes between 1,100 and 1,500 genes. There are three isoforms of LRCH3 that are produced as a result of alternative splicing events.

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C1orf148

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The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion and drug extrusion and delivery. CCDC43 (coiled-coil domain containing 43) is a 224 amino acid protein encoded by a gene that maps to human chromosome 17q21.31. Encoding over 1,200 genes, chromosome 17 comprises over 2.5% of the human genome. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome.

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Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.

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Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuron differentiation and may indirectly act as a negative regulator of insulin-responsive glucose transport.

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EGFLAM is a 1,017 amino acid secreted protein containing three EGF-like domains, two fibronectin type-III domains, and three laminin G-like domains. Colocalizing with bassoon, CtBP and dystroglycan in photoreceptor synaptic terminals, EGFLAM is involved in retinal photoreceptor ribbon synapse formation. EGFLAM may also promote matrix assembly and cell adhesion. Existing as five alternatively spliced isoforms, the gene encoding EGFLAM maps to human chromosome 5p13.2. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Cockayne syndrome, Treacher Collins syndrome, acute myelogenous leukemias and myelodysplastic syndrome are associated with genes present on chromosome 5.

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Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.

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The Major facilitator superfamily consists of presumed carbohydrate transporters with 10-12 membrane-spanning domains. Belonging to the facilitator superfamily, HIAT1 is a 490 amino acid multi-pass membrane protein that may function as a sugar transporter and is expressed in adult and embryonic brain. The HIAT1 gene was first observed while analyzing for active genes in neonatal mouse hippocampus. The gene encoding HIAT1 maps to human chromosome 1, 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. Stickler syndrome, Parkinsons, schizophrenia, familial adenomatous polyposis, Gaucher disease and Usher syndrome are also associated with chromosome 1.

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The protein encoded by this gene is a serine/threoninekinase involved in cell cycle regulation. The encoded protein isfound in a centrosomal complex with FEZ1, a neuronal protein thatplays a role in axonal development. Defects in this gene are acause of polycystic kidney disease (PKD). Several transcriptvariants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2010].

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EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6 (By similarity).

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Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis.

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SRPK2 belongs to the protein kinase superfamily. It phosphorylates RS domain-containing proteins, such as SFRS1 and SFRS2 on serine residues. It has a role in spliceosome assembly and in mediating the trafficking of splicing factors and appears to mediate HBV core protein phosphorylation which is a prerequisite for pregenomic RNA encapsidation into viral capsids. SRPK2 highly expressed in brain, moderately expressed in heart and skeletal muscle and at low levels in lung, liver, and kidney.

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Possible role in EGF receptor signaling.

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The apolipoprotein L gene family maps to a region on chromosome 22 and encodes six highly homologous proteins designated apoL-I, apoL-II, apoL-III, apoL-IV, apoL-V and apoL-VI, all of which function as components of plasma lipoproteins. ApoL-V (apolipoprotein L-V), also known as APOL5, is a 433 amino acid protein that localizes to the cytoplasm and belongs to the apolipoprotein L family. Expressed in a variety of tissues including testis, stomach, uterus and skeletal muscle, apoL-V is thought to affect the movement of lipids in the cytoplasm and may allow the binding of lipids to organelles. Like other members of the apolipoprotein L family, apoL-V is thought to be involved in the development of schizophrenia.

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The features of hemochromatosis include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure. Since hemochromatosis is a relatively easily treated disorder if diagnosed, this is a form of preventable cancer. The HFE protein, which is defective in hereditary hemo-chromatosis, normally is expressed in crypt enterocytes of the duodenum where it has a unique, predominantly intracellular localization. In placenta, the HFE protein co-localizes with and forms a stable association with the transferrin receptor (TfR), providing a link between the HFE protein and iron transport. Immunocytochemistry shows that the HFE protein and TfR both are expressed in the crypt enterocytes. Western blots show that, as is the case in human placenta, the HFE protein in crypt enterocytes is physically associated with the TfR and with β2-microglobulin. It is proposed that HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron and that the balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. The gene which encodes HFE maps to human chromosome 6p21.3.

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ERMAP is a single-pass type one membrane protein that belongs to the immunoglobulin superfamily. Expressed in cord blood, fetal liver and adult bone marrow, ERMAP is thought to function as a cell adhesion molecule in erythroid cells and is responsible for expression of the Scianna/Radin (Sc/Rd) blood group antigen system. The Sc/Rd system is comprised of seven antigens that are present on the surface of red blood cells and have a variety of functions ranging from protein transport to cell adhesion. These seven blood antigens can differ in their expression within a population and may sometimes differ between mother and child. A fetus expressing different blood antigens than its mother may cause the mother to produce against the fetal blood. This condition is known as hemolytic disease of the newborn (HDN) and is characterized by jaundice, anemia and in some cases, infant death.

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This gene encodes a protein that is localised to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19.

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Tripartite motif-containing protein 32 (TRIM32) belongs to the tripartite motif (TRIM) protein family. TRIM32, like all TRIM proteins, contains a domain structure composed of a B-box, a RING-finger and a coiled-coil motif. Additionally, TRIM32 has six C-terminal NHL domains; it is expressed mainly in the skeletal muscle. The TRIM32 gene encodes an E3 ubiquitin ligase, a protein that attaches ubiquitin to a lysine residue on a target protein and acts in conjunction with ubiquitin-conjugating enzymes UbcH5a, UbcH5c and UbcH6. Mutations in the TRIM32 gene cause two forms of autosomal recessive muscular dystrophy designated limb girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy (STM). TRIM32 mutations can also result in Bardet-Biedl syndrome (BBS), an autosomal recessive disorder characterized by pigmentary retinopathy, polydactyly, hypogenitalism, renal abnormalities, learning disabilities and obesity.

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WDR91

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The Notch signaling pathway is an evolutionary conserved system that is involved in intracellular communication. Notch receptors play an important role in development and cell-fate decisions. Notchless is a loss-of-function mutant allele that encodes for protein NLE1 (notchless homolog 1). NLE1 is a 485 amino acid WD40-repeat protein that binds to the cytoplasmic domain of Notch, regulating its signaling activity in Drosophila melanogaster and in mice. Deletion of the NLE1 gene in mice during the early stages of development results in embryonic death, while gene deletion in the late stages of development leads to activation of a caspase-3-dependent apoptotic pathway. In plants, NLE1 is crucial for normal cellular growth and development. Under-expression during shoot proliferation causes pleiotropic defects such as delayed flowering and abnormal organ maturation. It may also play a role in 60S ribosomal subunit biogenesis in yeast. NLE1 contains eight WD40 domains and produces one isoform due to alternative splicing.

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The ATF/CREB family consists of transcription factors that function through binding to the cAMP responsive element (CRE) palindromic octanucleotide, TGACCTCA. The best characterized members of this gene family include CREB-1, CREB-2, ATF-1,ATF-2,ATF-3and ATF-4. these transcription factors share highly-related COOH terminal leucine zipper demerization and basic DNA bindings but are highly divergent in their amino terminal domains. Although each of the ATF/CREB proteins bind CREs in their homodimeric form, in cerain instances they also bind as heterodimers, both within the ATF/CREB family and with members of the AP-1 transcription factor family. It has recentlybeen shown that protein kinase A-mediated CREB phosphorylation results in its binding to a 265kDa nuclear protein designated CBP (CREB-binding protein), which may reprecent a CREB co-activator.

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CD130 is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggested a critical role of the gene encoding this protein in regulating myocyte apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.

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Summary: This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. [provided by RefSeq, Jul 2008].

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Nova-1 and Nova-2 are members of a superfamily of protein regulators of RNA metabolism in neurons. Both are nuclear RNA binding proteins with K homology motifs, conserved protein sequences which bind to RNA (1,2). Nova proteins, normally sequestered in the central nervous system, are expressed by systemic tumors in patients with the autoimmune disorder paraneoplastic opsoclonus-myoclonus ataxia (POMA) (3,4). Nova-1 is expressed in the hindbrain and ventral spinal cord and Nova-2 is expressed in the neocortex and hippocampus (4). Nova-1 is necessary for regulating neuron-specific alternative splicing of the glycine receptor Alpha2 pre-mRNA (5).

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May play a role in tumorigenesis.

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This gene encodes a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

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Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013].

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CPXCR1 is widely expressed in fetal tissues, including the tongue, mandible and palate with an unknown function. Cleft palate most commonly occurs as a sporadic multifactorial disorder with a clear but difficult to define genetic component. As a semi-dominant disorder, X-linked cleft palate (CPX) provides a useful model to investigate a congenital defect that is little influenced by non-genetic factors.

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Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts.