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

Supplier: Bioss

Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis.

Supplier: Bioss

GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis.

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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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IQCF1 is an 81 amino acid protein encoded by the IQCF1 gene, which maps to human chromosome 3. Chromosome 3 is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

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Spliceosomes are multi-protein complexes that are composed of snRNPs (small nuclear ribonucleoproteins) and a variety of associated protein factors, all of which work in concert to regulate the splicing of pre-mRNA, a critical step in the post-transcriptional regulation of gene expression. CWC22 (CWC22 spliceosome-associated protein), also known as NCM, fSAPb or EIF4GL, is a 908 amino acid nuclear protein and component of the spliceosome C complex. CWC22 is associated with the spliceosome prior to catalytic steps and remains associated throughout the reaction. Belonging to the CWC22 family, CW22 contains one MI domain and a MIF4G domain. The gene encoding CWC22 maps to human chromosome 2q31.3. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes.

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Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins.

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OVCA1 is required for the first step in the synthesis of diphthamide, a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. OVCA1 is one of several enzymes involved in synthesis of diphthamide in EEF2.

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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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The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene.

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TLX3 (HOX11L2, RNX) belongs to a family of orphan homeobox genes that encode DNA binding nuclear transcription factors. Members of the HOX11 gene family are characterized by a threonine 47 replacing cytosine in the highly conserved homeodomain. This transcription factor is required for hematopoiesis. It is overexpressed in childhood acute lumphoblastic leukemia.

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TNFRSF14 is a type I membrane protein belonging to the TNF receptor superfamily. This receptor mediates herpes virus entry into cells during infection. TNFRSF14 is able to inhibit the proliferation, activation, and cytokine production of T cells. It has an extracellular domain containing several cysteine-rich repeats and a short cytoplasmic region containing a TRAF (TNF receptor-associated factor) interaction domain. The extracellular domain of TNFRSF14 interacts with the herpes simplex virus envelope glycoprotein D. TNFRSF14 binds two cellular ligands: lymphotoxin alpha and LIGHT. LIGHT is a transmembrane protein expressed and shed from the surface of activated T cells, exhibits inducible expression, and competes with HSV glycoprotein D for HVEM, a receptor expressed by T lymphocytes. The LIGHT:TNFRSF14 interaction controls immune response functions by cell death induction as well as cell activation. TNFRSF14 is expressed by peripheral blood T cells, B cells, monocytes and in various tissues enriched in lymphoid cells.

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Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

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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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C3orf62 (chromosome 3 open reading frame 62) is a 267 amino acid protein encoded by a gene that maps to human chromosome 3p21.31. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.

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.

Supplier: Bioss

Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (CDK5 regulatory subunit-associated protein 1) specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP2, also known as Centrosome-associated protein 215, is a 1893 amino acid centrosomal protein that regulates activity of CDK5 through complex formation with CDK5RAP1. Expressed in placenta, liver, pancreas, heart, skeletal muscle, lung, brain and kidney, CDK5RAP2 associates with centrosomes throughout the cell cycle. Mutations in the gene encoding CDK5RAP2 results in primary microencephaly autosomal recessive type 3, which is characterized by markedly reduced head size, brain weight and significant neurological deficits. There are four isoforms of CDK5RAP2 that are produced as a result of alternative splicing events.

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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.

Supplier: Bioss

Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.

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DNA PK is the key component of the non-homologous end-joining (NHEJ) pathway of DSB repair in mammalian cells. DNA PK consists of a heterodimeric DNA-binding subunit (Ku70/80) and an approximately 465 kDa catalytic subunit (DNA PKcs). DNA PKcs is a serine/threonine protein kinase whose activity is greatly stimulated by its recruitment to DNA breaks by the Ku heterodimer.

Supplier: Bioss

BCMP11

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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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Transcriptional repressor. Down-regulates transcription activation by NF-kappa-B by promoting the deacetylation of RELA at 'Lys-310'. Promotes HDAC1 binding to promoter regions. Down-regulates expression of anti-apoptotic genes that are controlled by NF-kappa-B. Promotes apoptosis in cells that have inadequate adherence to a substrate, a process called anoikis, and may thereby inhibit metastasis. May be a mediator of metastasis suppression in breast carcinoma.

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Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Supplier: Bioss

May be involved in regulation of genes related to neurogenesis in the nucleolus.

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C1orf145

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NAP125, also known as NCKAP1 (NCK-associated protein 1), p125Nap1 or membrane-associated protein HEM-2, is a 1,128 amino acid single pass membrane protein that exists as two alternatively spliced isoforms and belongs to the HEM-1/HEM-2 family. While widely expressed, NAP125 is found at highest levels in heart, brain and skeletal muscle where it regulates Rac-dependent actin remodeling as part of a lamellipodial complex with WAVE2, Abi-1 and CYFIP1. NAP125 localizes to the cytoplasmic side of lamellipodium membrane and is encoded by a gene that maps to human chromosome 2q32.1 and mouse chromosome 2 C3. NAP125 expression is markedly reduced in Alzheimer disease (AD)-affected brains, suggesting a possible role in the disease.

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The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found, but only one transcript variant has been supported and defined. [provided by RefSeq].Hsp27, also referred to as the Estrogen regulated 24K protein and HSP28, is one of several small heat shock proteins (HSP) produced by all organisms studied. Hsp27 synthesis is induced by elevated temperature, as well as estrogen in hormone responsive cells. This protein is involved in stress resistance and actin organization. Interestingly, human HSP27 also shares greater than 50% homology with low molecular weight Drosophila HSP's and mammalian a-crystalline lens protein. Because of the estrogen responsive nature of Hsp27, this protein has been studied extensively in human estrogen responsive tissues such as cervix, endometrium and breast tissue. This work has led to the suggestion that Hsp27 may be a useful marker in classifying various hormone sensitive tumors.

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E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level.

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Cysteine string proteins (CSPs) are synaptic vesicle-associated, secretory vesicle proteins that are involved in Ca2+-regulated exocytosis of synaptic vesicles and modulation of presynaptic transmembrane calcium fluxes in neuroendocrine and endocrine cell types. CSP contains a J-domain that binds HSP 70/HSC 70 chaperone ATPases and a membrane-targeting, palmitoylated cysteine-rich string region. CSPs may act as molecular chaperones in synapses, and mediate conformational folding of components of the vesicular exocytotic machinery. CSP is involved in the fine tuning of neurotransmission through its interaction with receptor-coupled trimeric GTP binding proteins (G proteins) and N-type Ca2+ channels. Two variants of CSP have been described: CSP1; and the 31 amino acid, C-terminally truncated isoform, CSP2. Subcellular fractionation of insulinoma cells shows CSP1 in granular fractions, while the membrane and cytosol fractions contain predominantly CSP2. The fractions also contain additional proteins, presumably CSP dimers. Furthermore, in various mammalian cell lines (including rat brain) CSP1 expression predominates CSP2 expression.

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Transcription factors, OTX1 and OTX2, are two murine homologs of the Drosophila orthodenticle (OTD), show a limited amino acid sequence divergence. OTX1 and OTX2 play an important role during early and later events required for proper brain development in that they are involved in the processes of induction, specification and regionalization of the brain. OTX1 is involved in corticogenesis, sensory organ development and pituitary functions, while OTX2 is necessary earlier in development, for the correct anterior neural plate specification and organization of the primitive streak. OTX2 is also required in the early specification of the neuroectoderm, which is destined to become the fore-midbrain, and both OTX1 and OTX2 co-operate in patterning the developing brain through a dosage-dependent mechanism. A molecular mechanism depending on a precise threshold of OTX proteins is necessary for the correct positioning of the isthmic region and for anterior brain patterning. The genes which encode OTX1 and OTX2 map to human chromosomes 2p13 and 14q21-q22, respectively.