118494 Results for: "Szufelki+do+pr\u00F3bek&pageNo=30"

Supplier: Bioss

GLB1L3 is a 653 amino acid protein belonging to the glycosyl hydrolase 35 family. GLB1L3 exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11q25. 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. 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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TNNI3K, also known as CARK, is a 936 amino acid serine/threonine-protein kinase that is highly expressed in heart. Overexpression of TNNI3K leads to improved cardiac function by enhancing beating frequency and increasing contractile force and epinephrine response. TNNI3K suppresses phosphorylation of cardiac troponin I and p38/JNK-mediated apoptosis, therefore protecting the myocardium from ischemic injury. Administration of TNNI3K to mice with myocardial infarction improves cardiac performance and attentuates ventricular remodeling, suggesting that TNNI3K could be a promising target in the treatment of cardiac diseases. There are four isoforms of TNNI3K that are produced as a result of alternative splicing events.

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High affinity receptor for the C-C type chemokines CCL17/TARC and CCL22/MDC. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival.

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The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008].

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HDGFL1.

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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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Chromosome 22 contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia. The C22orf15 gene product has been provisionally designated C22orf15 pending further characterization.

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CTR9 is a component of the PAF (polymerase-associated factor) complex which interacts with histone-modifying enzymes and RNA polymerase II and plays a role in a number of transcription-related processes. Recent studies show that CTR9 can regulate IL-6-responsive gene transcription by influencing histone methylation.

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NKHC1 is a neuronal-specific component of a multi-subunit “molecular motor” complex that mediates intracellular organelle transport. Mutations in the gene encoding NKHC1 cause autosomal dominant spastic paraplegia 10. NKHC1 has a pan-neuronal distribution in the nervous system. Rat tissue extracts by immunoblot of NKHC1 can produce a doublet only in brain and sciatic nerve tissue. NKHC1 is distributed throughout the central nervous system and is enriched in subsets of neurons. Within cultured hippocampal neurons, NKHC1 is concentrated in the perinuclear region of the cell body. Kinesin superfamily proteins like NKHC1 are the molecular motors conveying cargos along microtubules.

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Together with dynein may be involved in spindle assembly and cytokinesis.Tissue specificity:Ubiquitously expressed. Highly expressed in muscle and pancreas and detected at lower levels in brain.

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Induces caspases and apoptosis. Counters the protective effect of Bcl-2. The major proteolytic product p15 BID allows the release of cytochrome c.

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The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008].

Supplier: Bioss

The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.

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

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The synucleins, including Alpha-synuclein (also designated NACP for nonamyloid component precursor),Beta-synuclein (also designated PNP 14 for neuroprotein 14)and Gamma-synuclein (also designated persyn or BCSG1 for breast cancer-specific gene 1)are presynaptic protein abundant in neurons. Alpha-synuclein, a component of Alzheimer’s disease amyloid plaques, is localized to neuronal cell bodies and synapses. Coordinate expression of Alpha-synucleinand Beta-synuclein may be important during hematopoetic cell differentiation. In patients with Parkinson’s disease, a mutant form of Alpha-synuclein has been found and Gamma-synuclein is associated with axonal pathology.

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Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localisation to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions.

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The CD3 complex mediates signal transduction.

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Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis.

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Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions.

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The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008].

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Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets. Isoform eNOS13C: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.

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Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.

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Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation. Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis.

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Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

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The HUNK (hormonally upregulated Neu-associated kinase) protein, also designated MAK-V in mouse, has been identified as a novel SNF1-related serine/threonine kinase. The human HUNK gene localizes to chromosome 21q22 and encodes a protein with nucleocytoplasmic distribution and localizes to the centrosome. Overexpression of the HUNK protein associates with approximately 50% of breast carcinomas, and may provide diagnostic-prognostic value as a molecular marker. Serine/threonine-protein kinase SNF1-like kinase 2 (SIK) phosphorylates Ser-794 of IRS1 in insulin-stimulated adipocytes, which may modulate the efficiency of insulin signal transduction. SIK is activated by phosphorylation on Thr-175 by STK11 in complex with STE20-related adapter-α and CAB39.

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Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.

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Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate which plays a key role in initiation and maturation of autophagosomes. Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for the abcission step in cytokinesis. Required for transport from early to late endosomes.

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Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

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Counteracts the host antiviral immune response by preventing IRF3 from entering the nucleus once activated and phosphorylated. Participates also in the transactivation of viral major immediate-early genes by recruiting host IFI16 to their promoters.

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In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008].