33382 Results for: "Provette+per+immunologia&pageNo=67"

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C5orf24 is a With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome. The C5orf24 gene product has been provisionally designated C5orf24 pending further characterization.

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Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents.ApoE exists in three major isoforms; E2, E3, and E4, which differ from one another by a single amino-acid substitution. Compared with E3 and E4, E2 exhibits the lowest receptor binding affinity. Defects in ApoE are a cause of hyperlipoproteinemia type III due to increased plasma cholesterol and triglycerides levels which are the consequence of impaired clearance of chylomicron and VLDL remnants.Summary: Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jul 2008].

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AKT1-specific substrates have been recently identified, including palladin (PALLD), which phosphorylation modulates cytoskeletal organization and cell motility; prohibitin (PHB), playing an important role in cell metabolism and proliferation; and CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization. These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation. Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation.

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Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity).

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Aurora A plays a role in cell cycle regulation during anaphase and/or telophase, in relation to the function of the centrosome/spindle pole region during chromosome segregation. Aurora A plays a key role during tumor development and progression and is overexpressed in many human cancers including breast, ovarian and colorectal. Aurora A is viewed as a potential target for anticancer drug treatment.Aurora B is a mitotic protein kinase that phosphorylates histone H3 (probably on Serine 10), behaves as a chromosomal passenger protein, and may regulate several stages of mitosis such as centrosome separation, chromosome segregation and cytokinesis. It localizes to the inner centromere region from prophase to anaphase. The Aurora kinases, members of the Ser/Thr protein kinase family, associate with microtubules during chromosome movement and segregation. Aurora kinase C may play a part in organizing microtubules in relation to the function of the centrosome/spindle pole during mitosis. This protein is localized to centrosome from anaphase to cytokinesis. Expression is limited to testis in normal cells. Elevated expression levels are seen only in a subset of cancer cells such as HepG2, HuH7 and HeLa cells. Aurora-C expression is maximum at M phase.

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Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses.

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This gene is a necessary element in receptor tyrosine kinase pathways, possibly as a tyrosine phosphorylation target. It is involved in regulation of RAF in the MAPK pathway and may also play a role in a MAPK-independent pathway. [provided by RefSeq, Jul 2008].

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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. [provided by RefSeq, Jul2008].

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The aldo-keto reductase 7 (AKR7) family includes AKR7A2, AKR7A3 and AKR7A4 in human, AKR7A5 in mouse and AKR7A2 in rat, all of which function in the metabolism of aflatoxin B(1) and other dicarbonyl-containing compounds. More specifically, AKR7A proteins are involved in the metabolism of compounds with ketone groups on adjacent carbon atoms in a broad range of tissues, notably the liver. The human AKR7A2 gene maps to human chromosome 1p35-36, a region frequently deleted in sporadic colorectal cancer. The functional significance of this correlation lies in the constitutive expression of AKR7A2 in human liver to eliminate aflatoxin (an environmental carcinogen), thus acting as an endogenous chemo-preventative agent.

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Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.

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DBX2 is a 339 amino acid member of the H2.0 homeobox family. DBX2, which is localized to the nucleus, contains one homeobox DNA-binding domain, a region of 60 amino acids that binds DNA through a helix-turn-helix type of structure. DBX2, which is expressed in the forebrain, midbrain, hindbrain and spinal cord, has been implicated in CNS development.Specifically, DBX2 has been shown to play a role in spinal cord dorsal/ventral patterning, as well as the regionalization of the CNS. DBX2 is also thought to play a role in the production of multiple spinal cord cell types.

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Sam 68 is a protein that is phosphorylated on tyrosine and functions as a substrate for Src family tyrosine kinases during mitosis. Sam 68 also associates with several SH2 and SH3 domain-containing signaling proteins, such as GRB2 and PLC ?. Originally cloned as Ras GAP-associated p62, further investigations have shown that Sam 68 and Ras GAP-associated p62 are not antigenically related, nor are they encoded by the same gene. Like Sam 68, the Sam 68-like mammalian proteins, SLM-1 and SLM-2, demonstrate RNA binding activity. Also like Sam 68, SLM-1 is tyrosine phosphorylated and functions as an adapter protein for signaling molecules, including GRB2, PLC ?, Fyn and Ras GAP. SLM-2 is not tyrosine phosphorylated, nor does it appear to associate with GRB2, PLC ?, Fyn or Ras GAP, indicating that SLM-2 may not be an adapter protein for these proteins.

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Growth hormone-releasing hormone (GHRH) stimulates secretion and synthesis of growth hormone (GH), causes somatotroph proliferation and may have direct actions in fetal/placental development, reproduction and immune function. It exerts its action through high-affinity GHRH receptors present in the anterior pituitary. GSH-1 (GS homeobox 1) is a 264 amino acid hypothalamic nuclear protein that functions as a transcription factor responsible for maintaining GHRH expression as well as playing an important role in pituitary development. Coexpression of CBP leads to significantly enhanced GSH-1-induced GHRH expression, which suggest that CBP may function as a co-activator. Knockdown of GSH-1 mRNA in mice causes a dwarf phenotype, which suggests that certain cases of familial dwarfism may be caused by a mutation of the GSH-1 gene.

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Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.

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This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013].

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DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked.

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Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA.

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Striatin, SG2NA, and zinedin, the three mammalian members of the striatin family, are multimodular, WD repeat and calmodulin-binding proteins. Zinedin and SG2NA share with striatin identical protein-protein interaction domains and the same overall domain structure. All three proteins are both cytosolic and membrane-bound and bind calmodulin in the presence of calcium. Striatin is a neuronal, intracellular protein strictly expressed in the somato-dendritic compartment, including spines and subsets of neurons, and is considered as a marker of neuronal polarity. Downregulation of striatin, which is expressed in a few subsets of neurons, impairs the growth of dendrites as well as rat locomotor activity. Zinedin is mainly expressed in the central nervous system, whereas SG2NA is mainly expressed in the brain and muscle.

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The RAF family of signaling proteins has three isoforms: A RAF, RAF 1 and B RAF. These proteins are instrumental in forwarding the stimulus generated by mitogens from monomeric G proteins to the MAP kinase pathway. RAF 1 is known to be downstream of Ras and binds to it by an N terminal noncatalytic domain. This domain is conserved in A RAF and B RAF. 14-3-3 is also known to be an activator of RAFs. Activated RAF directly phosphorylates and activates MEK. A RAF is expressed at a very high concentration in urogenital and kidney tissues.

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Germ cell nuclear factor (GCNF) is an orphan member of the nuclear receptor gene superfamily that influences neurogenesis and germ cell development. GCNF can homodimerize and bind DNA. GCNF regulates paracrine interaction between the oocyte and somatic cells by regulating the expression of BMP-15 and GDF-9, to affect female fertility. GCNF is present in spermatocytes and round spermatids of adult male mouse testis; northern blot and ribonuclease protection assays have shown GCNF is predominant in the testis. The gene expresses three alternatively spliced transcript variants.

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TCTP is involved in calcium binding and microtubule stabilization. It is an immunoglobulin E dependent histamine-releasing factor produced by lymphocytes of atopic children and present in biologic fluids of allergic patients. Both human and mouse recombinant HRF proteins caused histamine release from human basophils of a subpopulation of donors (referenced from OMIM).

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ZBED3

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May play a role as a mediator of inflammation and angiogenesis.

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Glutamate receptors mediate most excitatory neurotransmission in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are categorized into NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Kainate/AMPA receptors are co-localized with NMDA receptors in many synapses and consist of seven structurally related subunits designated GluR-1 to -7. The kainate/AMPA receptors are primarily responsible for the fast excitatory neuro-transmission by glutamate whereas the NMDA receptors are functionally characterized by a slow kinetic and a high permeability for Ca2+ ions. The NMDA receptors consist of five subunits: epsilion 1, 2, 3, 4 and one zeta subunit. The zeta subunit is expressed throughout the brainstem whereas the four epsilon subunits display limited distribution.

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The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. TTC21B (tetratricopeptide repeat domain 21B), also known as THM1, is a 1,316 amino acid protein that contains 19 TPR repeats and belongs to the TTC21 family. Localizing to cytoplasm and cytoskeleton, TTC21B exists as two alternatively spliced isoforms and is thought to negatively regulate Shh signal transduction. TTC21B may also be involved in retrograde intraflagellar transport in cilia, and is encoded by a gene that maps to human chromosome 2q24.3.

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In eukaryotic cells, the Golgi apparatus receives newly synthesized proteins from the endoplasmic reticulum (ER) and, after covalent modification, delivers them to their destination in the cell. For membrane-directed proteins this process is believed to be carried out via vesicular transport. Correct vesicular transport is determined by specific pairing of vesicle-associated SNAREs (v-SNAREs) with those on the target membrane (t-SNAREs). Unconventional SNARE in the ER 1, also known as USE1 or protein p31, is a 259 amino acid t-SNARE that forms a larger complex with ZW10, RINT-1 and Syntaxin 18. Upon Mg2+-AP treatment in the presence of NSF and ?SNAP, ZW10, RINT-1 and USE1 dissociate from Syntaxin 18. USE1 is a single-pass type IV membrane protein that is localized to the endoplasmic reticulum membrane. Three named isoforms exist for USE1 as a result of alternative splicing events.

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Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis.

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Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases.

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This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. [provided by RefSeq, Jul 2008].

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Rb is a tumor suppressor gene which functions as a negative regulator of the cell cycle by interacting with transcription factors including E2F1, PU1, ATF2, UBF, Elf1 and cAbl. This ability of Rb to alter transcription is regulated by phosphorylation catalyzed by the cyclin dependent protein kinases (cdks). Rb is phosphorylated on serine and threonine, but not on tyrosine residues. It forms a complex with SV40 large T antigen, adenovirus E1A, and human papilloma virus 16E. Rb protein may act by regulating transcription and loss of its function leads to uncontrolled cell growth. Aberrations in the Rb gene have been implicated in cancers of breast, colon, prostate, kidney, nasopharynx, and leukemia.