54839 Results for: "Markery,+d\u0142ugopisy+i+grawery&pageNo=48"

Supplier: Bioss

IGFL1 belongs to the insulin-like growth factor (IGF) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth.

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Mammaglobin is a gene that is expressed almost exclusively in the normal breast epithelium and human breast cancer. It is a member of the secretoglobin gene family and forms a heterodimer with lipophilin B. It has been suggested that mammaglobin may be a useful marker for breast cancer clinical research. Studies investigating the detection of mRNA by RT PCR from circulating carcinoma cells in the peripheral blood of breast cancer patients have shown that mammaglobin is a highly specific marker and correlates with several prognostic factors, such as lymph node involvement.

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Belonging to the major facilitator superfamily, DIRC2 (disrupted in renal carcinoma protein 2) is a 478 amino acid multi-pass membrane protein that is primarily expressed in kidney proximal tubular cells. The genes encoding DIRC2 and DIRC3 are located at a translocation breakpoint which occurs frequently in individuals affected by familial renal cell carcinoma. Fusion transcripts that result from these translocations may affect normal protein function. This evidence suggests that, due to its chromosomal location, deregulation of the DIRC2 gene may cause haploinsufficiency and therefore result in the onset of tumor growth. There are two isoforms of DIRC2 which are produced as a result of alternative splicing events.

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Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Appears be required for postnatal control of vascular regression in the eye. Required for posterior patterning of the epiblast during gastrulation.

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FGF6 is a secreted heparin binding growth factor that is a member of the FGF family. Proteins of this family play a central role during prenatal development and postnatal growth and regeneration of a variety of tissues, by promoting cellular proliferation and differentiation. FGF6 is expressed in leukemia cell lines with platelet megakaryocytic differentiation potential. It signals through FGFR 1c, 2c, and 4. The FGF6 gene displays oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation.

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RHOBTB1 is a member of the Rho family of the small GTPase superfamily. Is made of a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. Plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system.

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Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK.

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Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development.

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Eukaryotic translation initiation factor 2C (eIF2C) proteins (argonaute family) influence RNA interference (RNAi) as components of the RNA-inducible silencing complex (RISC) or microRNA (miRNA)-containing ribonucleoprotein particle (miRNP). Small RNAs, including small interfering RNAs (siRNAs) and miRNAs, can silence target genes through mechanisms that utilize RISC or miRNP particles. eIF2C1 (argonaute 1, AGO1, eIF2C, GERP95, Q99) and Dicer1 play a coordinated role in siRNA-mediated gene silencing. eIF2C2 (Slicer, argonaute 2, AGO2, Q10) is a RISC component that can concentrate in cytoplasmic processing bodies (P-bodies) and catalyze mRNA cleavage. Mammalian P-bodies contain mRNAs and have an association with miRNA-induced translational silencing and siRNA-induced mRNA degradation. Additional eIF2C proteins include eIF2C3 (argonaute 3, AGO3), eIF2C4 (argonaute 4, AGO4) and meIF2c5 (mouse argonaute 5).

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Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia.

Supplier: Bioss

RNF169 contains 1 RING type zinc finger. The exact functions of RNF169 remain unknown.

Supplier: Bioss

May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation.

Supplier: Bioss

Peroxisomes are single-membrane bound organelles present in virtually all eukaryotic cells. They are involved in numerous catabolic and anabolic pathways, including beta-oxidation of very long chain fatty acids, metabolism of hydrogen peroxide, plasmalogen biosynthesis and bile acid synthesis. The Peroxin gene family, which includes more than 20 members, is required for peroxisome biogenesis. Peroxin 5R, also known as PEX5-related protein or Peroxisome biogenesis factor 5-like, is a 626 amino acid protein that is mainly expressed in brain, with some expression in testis and pancreas. Peroxin 5R contains five TPR repeats, which enable protein-protein interactions and assembly of large multiprotein complexes. There are three isoforms of Peroxin 5R that are produced as a result of alternative splicing events. These isoforms bind C-terminal peroxisome-targeting signals in a similar manner to Peroxin-5. Peroxin 5R interacts with Rab 8b, possibly playing a role in vesicular trafficking and neurotransmitter release.

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EDD is a progestin-regulated gene that was isolated from T-47D human breast cancer cells. Based on sequence homology, EDD appears to be a human homolog of the Drosophila hyperplastic discs (hyd) gene, a tumor suppressor gene that is required for control of imaginal disc growth. EDD contains a HECT domain in the carboxy terminus. HECT domain-containing proteins function as ubiquitin-protein ligases, or E3 enzymes. EDD has been shown to bind to ubiquitin, and like other HECT family proteins, may function as an E3 ubiquitin-protein ligase.

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FAM3A (Family with sequence similarity 3, member A; MGC143089), [SUBCELLULAR LOCATION] Secreted. [TISSUE SPECIFICITY] In similar amounts in testis, pancreas, adrenal, placenta, brain, fetal brain, liver, kidney, skeletal muscle and heart. Belongs to the FAM3 family.

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FANCG, involved in Fanconi anemia, confers resistance to both hygromycin and mitomycin C. FANCG contains a 5-prime GC-rich untranslated region characteristic of housekeeping genes. The putative 622-amino acid protein has a leucine-zipper motif at its N-terminus. Fanconi anemia is an autosomal recessive disorder with diverse clinical symptoms, including developmental anomalies, bone marrow failure, and early occurrence of malignancies. A minimum of 8 FA genes have been identified.

Supplier: Bioss

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically.

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The members of the G-protein-coupled receptor family are distinguished by their slow transmitting response to ligand binding. These seven transmembrane proteins include the adrenergic, serotonin and dopamine receptors. The effect of the signaling molecule can be excitatory or inhibitory depending on the type of receptor to which it binds. b-adrenergic bound to adrenaline activates adenylyl cyclase, while a2-adrenergic receptor bound to adrenaline inhibits adenylyl cyclase. Like the a2-adrenergic receptor, serotonin receptor functions are also mediated by G proteins that inhibit the activity of adenylyl cyclase. The serotonin receptors have been classified into several categories, designated SR-1–7 (5HT1–7). Subtypes within the SR-1 group include SR-1A, -1B, -1D, -1E and -1F.

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The cerebral and vascular plaques associated with Alzheimer's disease are mainly composed of Amyloid beta peptides. beta Amyloid is derived from cleavage of the Amyloid precursor protein and varies in length from 39 to 43 amino acids. beta Amyloid [1-40], beta Amyloid [1-42], and beta Amyloid [1-43] peptides result from cleavage of Amyloid precursor protein after residues 40, 42, and 43, respectively. The cleavage takes place by gamma-secretase during the last Amyloid precursor protein processing step. beta Amyloid [1-40], beta Amyloid [1-42], and beta Amyloid [1-43] peptides are major constituents of the plaques and tangles that occur in Alzheimer's disease. beta Amyloid and peptides have been developed as tools for elucidating the biology of Alzheimer's disease.

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Carboxypeptidase A2 (CPA2) is one of three different isoforms of human pancreatic carboxypeptidase A. Carboxypeptidase A2 acts on aromatic C-terminal residues.

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Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections.

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Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells.

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KBTBD4

Supplier: Bioss

DISP2 is the second of three known homologs of the D.melanogaster protein Dispatched. It is a multitransmembrane protein containing two PTCH/DISP domains and is thought to be involved in the release of lipid-anchored Hedgehog from producing cells. Hedgehog is a major player in signaling pathways during embryogenesis, tissue regeneration, and carcinogenesis and the DISP proteins have been implicated in these pathways. Recently, it has been shown that DISP2 is translationally regulated by the microRNA miR-214 in zebrafish. Expression of this miRNA decreased DISP2 promoter activity in vitro and its overexpression in zebrafish resulted in a phenotype identical to that observed by DISP2 mutants. At least two isoforms of DISP2 are known to exist.

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Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 8% of all plasma zinc.

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Glycolysis is an evolutionarily conserved series of ten chemical reactions that utilizes eleven enzymes to concomitantly generate pyruvate and ATP from glucose. fructose kinase-2/fructose 2,6-bisphosphatase (PFK-2) stimulates the synthesis and degradation of fructose 2,6-bisphosphate. Glycogen phosphorylase (also known as GP) is an allosteric enzyme important in carbohydrate metabolism. Its activity is regulated through either noncovalent binding of metabolites or by covalent modification. Glycogen phosphorylase catalyzes the phosphorylation of glycogen to Glc-1-P. There are three genes which encode the brain, liver and muscle forms of glycogen phosphorylase, PYGB, PYGL and PYGM. Because of its fundamental role in the metabolism of glycogen, glycogen phosphorylase has been a target for the design of inhibitory compounds, which could be valuable in the therapeutic treatment of type 2 diabetes mellitus.

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Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity).

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The ADP-ribosylation factor (ARF) protein family are structurally and functionally conserved members of the Ras superfamily of regulatory GTP-binding proteins. ARFs influence vesicle trafficking and signal transduction in eukaryotic cells and they play a central role in the maintenance of organelle integrity, assembly of coat proteins and activation of phospholipase D (PC-PLD). ARFRP1 (ADP-ribosylation factor related protein 1), also known as ARP or ARL18, is a 201 amino acid membrane-associated GTPase that localizes to the plasma membrane and the Golgi apparatus and is related to the ARF family of regulatory proteins. Expressed in a variety of tissues, ARFRP1 interacts with SYS1 and is thought to be involved in plasma membrane-related signaling events. ARFRP1 exists as multiple alternatively spliced isoforms and is encoded by a gene which maps to a gene cluster on chromosome 20 that is commonly overexpressed in tumors, suggesting a role for ARFRP1 in carcinogenesis.

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PIST (PDZ protein interacting specifically with TC10), also known as GOPC (golgi associated PDZ and coiled-coil motif containing), CAL or FIG, is a 462 amino acid protein that localizes to the cytoplasm, as well as to the membrane of the golgi apparatus and to the cell junction. Expressed ubiquitously and containing one PDZ (DHR) domain, PIST functions as a homooligomer that interacts with a variety of proteins and plays a role in intracellular protein trafficking and degradation. Additionally, PIST is thought to regulate ionic currents via membrane channel modification and may also play a role in autophagy. Chromosomal aberrations in the gene encoding PIST are found in glioblastoma multiform (GBM), a common and aggressive form of brain tumor, suggesting a role for mutated PIST in carcinogenesis. Three isoforms of PIST exist due to alternative splicing events.

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The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development.