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

Supplier: Bioss

FUSIP1 is a member of the Serine/Arginine (SR) family of splicing factors. Members of the SR family all contain one or more RNA recognition motifs (RRM) and an SR-rich domain. SR factors are not only essential for constitutive splicing but also regulate splicing in a concentration-dependent manner by influencing the selection of alternative splice sites. Expressed in a variety of tissues with low expression in kidney, liver and heart, FUSIP1 localizes to the cytoplasm and nuclear speckles. In its dephosphorylated form (occurring during M phase of the cell cycle), FUSIP1 functions as a potent general repressor of pre-mRNA splicing and can interact with U1 SnRNP 70. In its phosphorylated form, FUSIP1 interacts with Tra-2∫ and, together, they may cooperate in the regulation of splicing. Four isoforms exist for FUSIP1. In neurons, FUSIP1 isoforms may act to either positively or negatively regulate alternative splicing.

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Rsk1 is a member of a family of 90kDa ribosomal protein S6 kinases, which includes Rsk1, Rsk2 and Rsk3. These are broadly expressed serine/threonine protein kinases activated in response to mitogenic stimuli, including extracellular signal regulated protein kinases Erk1 and Erk2. Rsk1 is activated by MAPK in vitro and in vivo via phosphorylation. Active Rsks appear to play a major role in transcriptional regulation by translocating to the nucleus and phosphorylating c Fos and CREB.

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AZI1

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This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. Isoform 2 activates transcription presumably by sequestering inhibitory cofactors away from the promoters.

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SMARCA6 gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis.

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RbAp48 (Retinoblastoma-binding protein p48 or Rb-associated protein p48)is a WD repeat protein that is a core histone binding subunit common to several complexes involved in chromatin assembly, chromatin remodeling, and histone deacetylation. These complexes include Chromatin Assembly Factor 1 (CAF1), which is required for chromatin assembly following DNA replication and repair, the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and subsequent transcriptional repression, the nucleosome remodeling and histone deacetylation complex NuRD, the nucleosome remodeling factor (NURF) complex, and the PRC2 complex, which promotes repression of homeotic genes during development. RpAp48 also interacts with the retinoblastoma protein, and with SPEN/MINT and BRCA1. It is also a component of the DREAM complex, which represses cell cycle-dependent genes in quiescent cells.

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Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost.

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CLN6, a 311 amino acid protein, has seven predicted transmembrane domains and is conserved across vertebrates. The CLN6 protein localizes to the endoplasmic reticulum but contributes to lysosomal function. Mutations in the CLN6 gene cause variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL), a lysosomal storage disorder marked by progressive mental deterioration and blindness; part of a group of severe inherited neurodegenerative disorders affecting children wherein lysosomes accumulate storage material, causing the death of neurons. CLN6 is one of eight proteins, including CLN1-8, that are associated with NCL.

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Tyrosine kinase of the non-receptor type. Probably performs an important function, perhaps in regulatory processes such as cell cycle control.Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. [provided by RefSeq, Jul 2008].

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The Tenascin family of extracellular matrix proteins includes Tenascin (also designated cytotactin or Tenascin-C), Tenascin-R (also designated Restrictin or Janusin) and Tenascin-X. Tenascin proteins function as substrate-adhesion molecules (SAMs) and are involved in regulating numerous developmental processes, such as morphogenetic cell migration and organogenesis. The Tenascin family proteins arise from various splicing events in the region of coding for FNIII repeats. Tenascin and Tenascin-X are expressed in several tissues during embryogenesis, and in adult tissues undergoing active remodel-ing such as healing wounds and tumors. Tenascin-R (TN-R) is expressed on the surface of neurons and glial cells.

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This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf10 gene product has been provisionally designated C7orf10 pending further characterisation.

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SMEK2 contains a WH1 domain. There are five named isoforms produced by alternative splicing. Mapping of a diet-induced hypercholesterolemia locus (Dihc2) in rats identified SMEK2 as a strong candidate for responsiveness to dietary cholesterol.

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Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR, and the negative elongation factors DSIF and NELF. Regulates cytokine inducible transcription networks by facilitating promoter recognition of target transcription factors (e.g. TNF-inducible RELA/p65 activation and IL-6-inducible STAT3 signaling). Promotes RNA synthesis in genetic programs for cell growth, differentiation and viral pathogenesis. P-TEFb is also involved in cotranscriptional histone modification, mRNA processing and mRNA export. Modulates a complex network of chromatin modifications including histone H2B monoubiquitination (H2Bub1), H3 lysine 4 trimethylation (H3K4me3) and H3K36me3; integrates phosphorylation during transcription with chromatin modifications to control co-transcriptional histone mRNA processing. The CDK9/cyclin-K complex has also a kinase activity towards CTD of RNAP II and can substitute for CDK9/cyclin-T P-TEFb in vitro. Replication stress response protein; the CDK9/cyclin-K complex is required for genome integrity maintenance, by promoting cell cycle recovery from replication arrest and limiting single-stranded DNA amount in response to replication stress, thus reducing the breakdown of stalled replication forks and avoiding DNA damage. In addition, probable function in DNA repair of isoform 2 via interaction with KU70/XRCC6. Promotes cardiac myocyte enlargement.

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Chromosome 10 contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious. The KIAA1279 gene product has been provisionally designated KIAA1279 pending further characterization.

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High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses.

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Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF449 is a 518 amino acid protein that contains one SCAN box domain and seven C2H2-type zinc fingers. ZNF449 is ubiquitously expressed and localizes to the nucleus. There are three isoforms of ZNF449 that are produced as a result of alternative splicing events.

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The death domain (DD) superfamily of proteins share one or more of the following domains: the DD, DED (death-effector domain), CARD (caspase-recruitment domain) and PYD (Pyrin domain). Each of these domains is characterized by a canonical death domain fold, which consists of a bundle of five or six antiparallel α-helices. As their names suggest, these domains play prominent roles in programmed cell death. ASC2 (apoptosis-associated speck-like protein containing a CARD 2), also known as Pyrin-only protein 1 or PADD-only protein 1, is an 89 amino acid member of the DD superfamily that contains one Pyrin domain. Localized to the cytoplasm, ASC2 interacts with ASC to modulate NF-κB and pro-caspase-1 regulation. ASC2 is predominantly expressed in monocytes, macrophages and granulocytes.

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Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells.

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Crystallins are water soluble structural proteins found in the vertebrate eye. Mammalian crystallins are classified in three forms, designated α, β and γ. Crystallins, as the principal components of the lens, function to increase the refractive index of the eye during accommodation by forming high-molecular weight aggregates which maintain transparency. γS-crystallin (Gamma-crystallin S), also known as Beta-crystallin S, is a 178 amino acid protein that exists as a monomer which does not aggregate. γS-crystallin contains a two-domain beta structure and belongs to the beta/gamma-crystallin gene family mapping to human chromosome 3. γS-crystallin has been linked to congenital cataract development, a disorder signified by increasing levels of lens opacity.

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Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Negatively regulates the pathway by phosphorylating the scaffold protein TAXBP1 and thus promoting the assembly of the A20/TNFAIP3 ubiquitin-editing complex (composed of A20/TNFAIP3, TAX1BP1, and the E3 ligases ITCH and RNF11). Therefore, CHUK plays a key role in the negative feedback of NF-kappa-B canonical signaling to limit inflammatory gene activation. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. In turn, these complexes regulate genes encoding molecules involved in B-cell survival and lymphoid organogenesis. Participates also in the negative feedback of the non-canonical NF-kappa-B signaling pathway by phosphorylating and destabilizing MAP3K14/NIK. Within the nucleus, phosphorylates CREBBP and consequently increases both its transcriptional and histone acetyltransferase activities. Modulates chromatin accessibility at NF-kappa-B-responsive promoters by phosphorylating histones H3 at 'Ser-10' that are subsequently acetylated at 'Lys-14' by CREBBP. Additionally, phosphorylates the CREBBP-interacting protein NCOA3.

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Insulin receptor substrates (IRS) are responsible for several insulin related activities, such as glucose homeostasis, cell growth, cell transformation, apoptosis and insulin signal transduction. Serine/threonine phosphorylation of IRS1 has been demonstrated to be a negative regulator of insulin signaling and is responsible for its degradation, although IRS1 degradation pathways are not well understood. IRS1 has also been shown to be constitutively activated in cancers such as breast cancer, Wilm's tumors, and adrenal cortical carcinomas, thus making IRS1 phosphorylation and subsequent degradation an attractive therapeutic target. To date there have been four subtypes identified: IRS1, 2, 3 and 4, with IRS1 being widely expressed.

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Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The C4orf46 gene product has been provisionally designated C4orf46 pending further characterization.

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Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML.

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Gamma-aminobutyric acid type A (GABAA) receptors mediate inhibitory neurotransmission in the mammalian central nervous system. The receptor exists as a pentameric ion channel composed by heteromeric combinations of alpha, beta, gamma, delta, epsilon, theta, or pi subunits. Only specific subunit combinations produce viable receptors, while others never translocate to the cell surface from the ER where they are synthesized, and subsequently degraded. The theta subunit forms a receptor in combination with alpha3 subunits in monoaminergic cell groups. These receptors, found especially in the septum, preoptic areas, hypothalamic nuclei, amygdala and thalamus, likely have unique pharmacological properties linked to their expression in this particular cell type and not cholinergic cell groups, and may play a role in opiate withdrawl symptoms.

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Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).

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DCUN1D1 (DCUN1 domain-containing protein 1) contains a DUF298 domain and a UBA-like ubiquitin. Forms part of an E3 ubiquitin ligase complex for neddylation. Required for neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes by enhancing the rate of cullins neddylation. Functions to recruit the NEDD8-charged E2 enzyme to the cullin component. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity. Acts also as an oncogene facilitating malignant transformation and carcinogenic progression. Defects in DCUN1D1 may be a cause of squamous cell carcinomas.Strongly overexpressed in thyroid tumors, bronchioloalveolar carcinomas, and malignant tissues of squamous cell carcinoma of the oral tongue. Not overexpressed in aggressive adrenocortical carcinomas.

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This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. [provided by RefSeq, Jul 2008].

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C9orf89.

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The SHC gene encodes for a signaling and transforming protein containing Src homology 2 and 3 (SH2 and SH3) domains. The SHC gene encodes 2 widely expressed overlapping proteins of 46 and 52 kD, both containing a C-terminal SH2 domain. Adjacent to the SH2 region is a glycine and proline rich region. These 2 proteins differ in their N terminals. SHC proteins are involved in mitogenic signal transduction and act by coupling growth factor receptors to the RAS signaling pathway. The protein encoded by the SHC1 gene is thought to act as an adaptor in many signal transduction pathways.