41259 Results for: "Butyraldehyde+dibutyl+acetal&pageNo=67"

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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, ZNF704 is a 412 amino acid nuclear protein that contains one C2H2-type zinc finger. The gene encoding ZNF704 maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

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May participate in adhesion reactions between T lymphocytes and accessory cells by homophilic interaction.

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This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene.

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This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localised to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organisation of specialised intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

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This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

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C9orf79 is a 1445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

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4E-BP2; 4EBP2; eIF4E binding protein 2; eIF4E-binding protein 2; Eif4ebp2; Eukaryotic translation initiation factor 4E binding protein 1; Eukaryotic translation initiation factor 4E-binding protein 2; PHASII.

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GTP-binding protein 9 is a 396 amino acid protein that belongs to the Obg-related GTPase family under the translation factors (TRAFAC) class. Originally thought to only have GTPase activity, Obg-related GTPase family members have been shown to also have ATPase activity. In Homo sapians, GTPBP9 exhibits a preference for binding ATP over GTP, with GTP binding occuring only at high nucleotide concentration. One cause for ATP affinity and GTP discrimination is thought to be a substitution of glutamine for a hydrophobic amino acid in Obg-related family members; this is the same substitution that inactivates Ras-like GTPases. GTPBP9 contains a C-terminal TGS domain that binds to ligands and an N-terminal G domain which binds nucleotides. GTPBP9 is expressed as three isoforms produced by alternative splicing.

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FAM155A

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Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylates AKT1, AR, MCF2, WASL and WWOX. Implicated in trafficking and clathrin-mediated endocytosis through binding to epidermal growth factor receptor (EGFR) and clathrin. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR, thereby contributing to the accumulation of EGFR at the limiting membrane of early endosomes. Downstream effector of CDC42 which mediates CDC42-dependent cell migration via phosphorylation of BCAR1. May be involved both in adult synaptic function and plasticity and in brain development. Activates AKT1 by phosphorylating it on 'Tyr-176'. Phosphorylates AR on 'Tyr-267' and 'Tyr-363' thereby promoting its recruitment to androgen-responsive enhancers (AREs). Phosphorylates WWOX on 'Tyr-287'. Phosphorylates MCF2, thereby enhancing its activity as a guanine nucleotide exchange factor (GEF) toward Rho family proteins. Contributes to the control of AXL receptor levels. Confers metastatic properties on cancer cells and promotes tumor growth by negatively regulating tumor suppressor such as WWOX and positively regulating pro-survival factors such as AKT1 and AR.

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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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This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].

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The CUB and sushi domain-containing proteins, CSMD1-3, are membrane proteins that are involved in cell-cell adhesion and are weakly expressed in most tissues, with higher levels of expression observed in the cerebellum and hippocampus. CSMD1 is part of the complement system that defends against pathogens through either the classical pathway or the alternative pathway. Located primarily in nerve growth cones, CSMD1 blocks the classical pathway of the immune system and is thought to be involved in tumor suppression, as defects in the gene encoding CSMD1 are associated with squamous cell carcinomas. CSMD2 and CSMD3 are located primarily in the brain and are implicated in some forms of head and neck cancer. Additionally, the CSMD3 gene is a candidate for induction of epileptic seizures.

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APPBP1 is a member of the ubiquitin-activating E1 family. In fetal tissues APPBP1 is widely expressed and in adult tissues it is expressed throughout the brain. APPBP1 is a cell membrane associated protein and functions as the regulatory subunit in a heterodimer with UBA3. The APPBP1/UBA3 complex binds to and activates NEDD8, a ubiquitin-like protein involved in signal transduction, cell proliferation and development. This suggests that APPBP1 affects a variety of cellular functions. In addition, APPBP1 is essential for cell cycle progression through the S/M checkpoint. More specifically, it inhibits the entry into S phase and promotes entry into M phase.

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Nocturnin is a 431 amino acid circadian deadenylase protein that is expressed in a broad range of tissues with greatest abundance in the liver, kidney and testis. Nocturnin plays a role in circadian regulation as well as diet-induced obesity. The mRNA abundance of Nocturnin exhibits circadian rhythmicity, peaking after dusk in photoreceptors, spleen, heart, kidney and liver. Nocturnin is thought to be responisble for turning off genes that are involved in circadian regulation. In Xenopus retinal photoreceptor cells, the rhythmic regulation of Nocturnin is thought to be controlled by phosphorylated CREB. Mice lacking Nocturnin remain lean on high fat diets with a reduction in visceral fat, which suggests that this protein may also be responsible for lipid metabolism and fat storage.

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NUSAP1 is a microtubule-associated protein with the capacity to bundle and stabilize microtubules. It may associate with chromosomes and promote the organization of mitotic spindle microtubules around them. There are five different isoforms.

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CPXCR1 is widely expressed in fetal tissues, including the tongue, mandible and palate with an unknown function. Cleft palate most commonly occurs as a sporadic multifactorial disorder with a clear but difficult to define genetic component. As a semi-dominant disorder, X-linked cleft palate (CPX) provides a useful model to investigate a congenital defect that is little influenced by non-genetic factors.

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Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts.

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E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway. Mediates MED15 ubiquitination leading to proteasomal degradation. May contribute to the innate restriction of retroviruses. Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression. Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain. May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle.

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Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity.

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May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation.

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Activates NF-kappa-B via BCL10.Tissue specificity; Highly expressed in spleen. Also detected in liver, placenta, lung, peripheral blood leukocytes and in brain.

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Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.

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Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of CP110 during G2 phase, thereby acting as an inhibitor of centrosome reduplication.

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The synaptogyrin family of proteins are integral membrane proteins containing four transmembrane regions. Synaptogyrins are tyrosine-phosphorylated proteins with two neuronal (Synaptogyrins 1 and 3) and one ubiquitous (Synaptogyrin-2) isoform. Synaptophysin and synaptogyrin represent the major constituents of synaptic vesicles. Synaptogyrin-1 is associated with presynaptic vesicles in neuronal cells. Synaptogyrin-2, also known as Cellugyrin has a tyrosine phosphorylated C-terminal cytoplasmic tail, and is involved in the regulation of membrane traffic in non-neuronal cells. Synaptogyrin-3 is expressed mainly in brain and placenta. The SYNGR4 gene encodes for the 234 amino acid protein Synaptogyrin-4.

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This gene encodes a protein that is localised to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19.

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Members of the C1q superfamily have diverse functions that are related to cell adhesion and basement membrane components. CTRP5 (Complement C1q tumor necrosis factor-related protein 5) is a 243 amino acid secreted and membrane-associated protein that contains a collagen-like domain and a C1q domain. CTRP5 is a short-chain collagen that is expressed in retinal pigment epithelium as well as brain, lung, liver and placenta. By forming an extracellular hexagonal lattice, CTRP5 facilitates the adhesion of basal retinal pigment epithelium to Bruch’s membrane, the innermost layer of the choroid. A mutation within the C1q domain of CTRP5 results in abnormal high molecular weight aggregate formation, which alters its structure and interactions. This mutation may result in the presentation of late-onset retinal degeneration (LORD), an autosomal dominant disorder that is characterized by punctate yellow-white deposits in the retinal fundus and night blindness.

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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 C20orf177 gene product has been provisionally designated C20orf177 pending further characterization.

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The ATF/CREB family consists of transcription factors that function through binding to the cAMP responsive element (CRE) palindromic octanucleotide, TGACCTCA. The best characterized members of this gene family include CREB-1, CREB-2, ATF-1,ATF-2,ATF-3and ATF-4. these transcription factors share highly-related COOH terminal leucine zipper demerization and basic DNA bindings but are highly divergent in their amino terminal domains. Although each of the ATF/CREB proteins bind CREs in their homodimeric form, in cerain instances they also bind as heterodimers, both within the ATF/CREB family and with members of the AP-1 transcription factor family. It has recentlybeen shown that protein kinase A-mediated CREB phosphorylation results in its binding to a 265kDa nuclear protein designated CBP (CREB-binding protein), which may reprecent a CREB co-activator.

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JMJD1B (jumonji domain containing 1B), also known as KDM3B, 5qNCA (5q Nuclear Co-Activator) or C5orf7, is a member of the JHDM2 histone demethylase family of proteins. Expressed in a wide variety of tissues, JMJD1B localizes to the nucleus and contains one JMJC domain and a C-terminal zinc finger motif. JMJD1B functions as a histone demethylase and, using iron as a cofactor, demethylates lysine-9 of Histone H3. This suggests that JMJD1B plays a central role in the histone code. The gene encoding human JMJD1B is located within the 5q region of the genome that is often deleted in myeloid leukemias and myelodysplasias. This implies that JMJD1B may function as a tumor suppressor of myeloid leukemia. Eptopic expression of JMJD1B exhibits growth suppressive activities, further supporting a role for JMJD1B in tumor suppression.