41249 Results for: "Butyraldehyde+dibutyl+acetal&pageNo=67"

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Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.

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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. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. 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 the interferon regulatory factor 7 (IRF7) to induce its activation and translocation to the nucleus, resulting in transcriptional activation of type I IFN genes, which drive the cell in an antiviral state. When sumoylated, translocates to the nucleus and phosphorylates STAT3.

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf27 gene product has been provisionally designated C20orf27 pending further characterization.

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This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]

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Proliferation-associated nucleolar antigen is expressed in mid G1 phase with peak level during the S phase and a rapid degradation during late mitosis. Its expression in breast carcinoma is correlated with patient prognosis.

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Comprising nearly 4% of human DNA, chromosome 13 contains around 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is quite deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. The C13orf28 gene product has been provisionally designated C13orf28 pending further characterization.

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Proteins containing RNA recognition motifs, including various hnRNP proteins, are implicated in the regulation of alternative splicing and protein components of snRNPs. The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif that have been suggested to play a role in the modulation of apoptosis. RBM26 (RNA binding motif protein 26), whose alternative names include CTCL tumor antigen se70-2, C13orf10, ARRS2, SE70-2, ZC3H17, PRO1777, FLJ20957, RP11-255E21.1, MGC133295 or MGC133296, is a 1,007 amino acid protein with six isoforms which result due to alternative splicing. RBM26 also contains one C3H1-type zinc finger and two RRM (RNA recognition motif) domains. The gene encoding RBM26 maps to human chromosome 13q31.1.

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CCT2 is one of eight largely unrelated subunit proteins found in a protein chaperone complex known as the chaperonin-containing TCP-1 (CCT) or TRiC complex. The CCT complex is an abundanct cytoslic component that is credited with helping newly synthesized polypeptides adopt the correct conformation (1). Proteins that fold and assemble with the help of CCT include the cytoskeletal proteins actin and tubulin as well as up to 15% of newly synthesized eukaryotic proteins (2). CCT2 is the β-subunit of the chaperone complex and is one of several CCT proteins that exhibit increased expression in response to stress. This implies that the CCT complex helps cells recover from protein damage by assisting in protein folding and assembly (3). CCT subunit levels also change throughout the cell cycle, with lower proteins levels (and reduced chaperone activity) found during induced cell cycle arrest during at M phase (4). Each CCT subunit is thought to perform a specific function during protein folding and assembly (5); CCT2 exhibits both actin and tubulin binding activities (6,3) but the exact molecular function on this subunit remains uncertain.

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The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, Jul 2008].

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The Oxysterol-binding protein (OSBP) family of proteins consist of OSBP (OSBP1) and OSBP2 (ORP-4), which share a high overall similarity. OSBPs are involved in lipid metabolism and signal transduction, as well as vesicle transport, and can translocate to the periphery of Golgi membranes when they are bound to oxysterols. The OSBP protein transports sterols from lysosomes to the nucleus, where sterols downregulate the genes for HMG synthetase, HMG-CoA reductase and the low density lipoprotein receptor (LDLR). OSBP localizes to the cytosol and is widely expressed, while OSBP2 is mainly detected in testis, retina and fetal liver. The extracellular signal-regulated kinase (ERK) signaling pathway is controlled by OSBP via its cholesterol-binding properties. OSBP binds with a high affinity to 25-hydroxy-cholesterol (25-HC), a suppressor of cholesterol synthesis gene transcription in cultured cells.

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ZBTB8A

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Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.

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This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009].

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1.C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; 2. these two disorders share common disease-related mechanisms linked to dopamine signalling; 3. the expression of these genes is closely correlated; and 4. DRD2 provides the initial trigger in the pathogenesis of these disorders.

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The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilization, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness.

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Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

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Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf40 gene product has been provisionally designated C8orf40 pending further characterisation.

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The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. [provided by RefSeq].

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KIRREL2 is an immunoglobulin super family gene, it has been found to be expressed in beta cells of pancreatic islets; KIRR2_HUMAN.

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PDZD8 contains a PDZ domain. PDZ domains are protein-interaction domains that are often found in multi-domain scaffolding proteins. The function of this protein remains unknown.

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Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1).

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GPRIN1 may be involved in neurite outgrowth.

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This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012].

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FCHSD1 is a 690 amino acid protein that contains one FCH domain and two SH3 domains. FCHSD1 exists as three isoforms as a result of alternative splicing events. The gene encoding FCHSD1 maps to chromosome 5, which 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.

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Steroid and thyroid hormones and retinoic acid regulate a complex array of gene expression activity via intracellular receptor transcription factors belonging to the ligand dependent nuclear receptor superfamily. Adding to the complexity of function of these transcription factors are associated proteins known as coactivators and corepressors which, as their names suggest, enhance or depress transcriptional activity of the nuclear receptor with which they associate. One such coactivator is KAT13C / nuclear receptor coactivator 2 (NCOA2), also termed Glucocorticoid receptor-interacting protein 1 (GRIP1).

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RINT1 is involved in the regulation of membrane traffic between the golgi and the endoplasmic reticulum. It may play a role in cell cycle checkpoint control and is essential for telomere length control.

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In mammalian cells, transcription is regulated in part by high molecular weight coactivating complexes that mediate signals between transcriptional activators and RNA polymerase (1). These complexes include the SMCC (SRB and MED protein cofactor complex), which consists of various subunits that share homology with several components of the yeast transcriptional mediator complexes, and including the human proteins Srb7, Med6 (also designated DRIP33) and Med7 (also designated DRIP34) (2,3). SMCC associates with the RNAPII (RNA polymerase II) holoenzyme through Srb7 and, in turn, enhances gene-specific activation or repression induced by DNA-binding transcription factors (4). Med6 and Med7, as well as other components of SMCC, associate with coactivator proteins from the TRAP (thyroid hormone receptor-activating protein) complex and DRIP (for vitamin D receptor interacting protein) complex to facilitate steroid receptor dependent transcriptional activation (4,5). Additionally, SMCC associates with PC4 (positive cofactor 4) to repress basal transcription independent of RNAPII activity (6).

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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 C7orf45 gene product has been provisionally designated C7orf45 pending further characterisation.

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IGSF3, also known as V8 or EWI-3, is a 1,214 amino acid protein. Widely expressed with predominant expression in kidney, placenta and lung, IGSF3 localizes to the membrane and contains an N-terminal signal peptide, eight immunoglobulin (Ig) domains and a transmembrane segment. IGSF3 exhibits strong sequence and structural similarity to CD101 (32% identity), a leukocyte surface protein with seven Ig domains that is believed to play a role in T-cell activation. Despite the structural similarities between IGSF3 and CD101, IGSF3 is not expressed in peripheral blood lymphocytes and does not appear to participate in an immune function. Based on its subcellular localization and the presence of the eight Ig domains, IGSF3 is hypothesized to function as a surface receptor or as a cell adhesion molecule.

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Transcription factor that is necessary for placental development. Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer.