54836 Results for: "Ruthenium(III)+chloride+oxide&pageNo=48"

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Serotonin (pronounced) (5-hydroxytryptamine, or 5-HT) is a monoamine neurotransmitter synthesized in serotonergic neurons in the central nervous system (CNS) and enterochromaffin cells in the gastrointestinal tract of animals including humans. Serotonin is also found in many mushrooms and plants, including fruits and vegetables.

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This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012]

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High density lipoproteins (HDLs) play a critical role in cholesterol metabolism and their plasma concentrations are inversely correlated with risk for atherosclerosis. SR-BI and SR-BII (previously known as SR-BI.2) are the alternatively spliced products of a single gene. SR-BII and SR-BI are identical except for the encoded c-terminal cytoplasmic domain. Both SR-BI and SR-BII bind HDL and mediates selective uptake of HDL cholesteryl ester, but with SR-BII having an approximately 4-fold lower efficiency than SR-BI. SR-BI and SR-BII are expressed primarily in liver and non-placental steroidgenic tissues. Although the role of these scavenger receptors is not completely clear, SR-BII mRNA results from the alternative splicing of SR-BI precursor transcripts with both isoforms mediating selective transfer of lipid between HDL and cells. Therefore, the relative expression and functional activities of these two isoforms create a potential means of regulating selective lipid transfer between HDL and cells.

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This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009].

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Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.

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SETBP1 (SET binding protein 1), also known as SEB, is a 1,542 amino acid nuclear protein that contains three AT hook DNA-binding domains, one SKI homology region and a C-terminal SET-binding domain, which is followed by three PPLPPPPP repeats. SETBP1 may be involved in SET-related tumorigenesis and leukemogenesis by regulating the transforming activity of SKI in the nucleus or suppressing SET function. As a widely expressed protein, SETBP1 is encoded by a gene that maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.

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Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity.

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The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008].

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The KIR family of potassium channels possess a greater tendency to allow potassium to flow into the cell rather than out of it. Kir4.1, also known as Kir1.2, is highly expressed in brain including glial cells, astrocytes and cortical neurons. Kir4.1 is also expressed in myelin-synthesizing oligodendrocytes and is crucial to myelination in the developing nervous system. The gene encoding human Kir4.1 maps to chromosome 1. Kir4.2, also known as Kir1.3, is expressed in kidney, lung, heart, thymus and thyroid during development. The gene encoding human Kir4.2 maps to chromosome 21 in the Down syndrome chromosome region 1, and Kir4.2 may play a role in the pathogenesis of Down’s syndrome. Kir 5.1 forms functional channels only by coexpression with either Kir4.1 or Kir4.2 in the kidney and pancreas. The gene encoding human Kir5.1 maps to chromosome 17.

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p130 represents one of several known substrates for v-Crk encoded p47. p130 Cas (for Crk-associated substrate) exhibits a high level of tyrosine phosphorylation and is tightly associated with v-Crk, suggesting a role in v-Crk-mediated cell signaling. The molecular cloning of p130 Cas has shown it to represent a novel SH3 containing signaling molecule with a cluster of multiple putative SH2-binding motifs for v-Crk. By immunoprecipitation analysis, p130 Cas has been shown to be highly phosphorylated at tyrosine residues subsequent to either v-Src p60 or v-Crk-mediated transformation and to form stable complexes with both of these transforming proteins. p130 Cas behaves as an extremely potent substrate for protein tyrosine kinases and has been reported to relocate from the cytoplasm to cell membrane upon tyrosine phosphorylation. One proposed model is that the SH2 domain of v-Crk functions to activate c-Src kinase, which in turn phosphorylates p130 Cas.

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Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors. Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination. Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity).

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MPP3, also known as Discs large homolog 3 (DLG3), is a 585 amino acid protein belonging to the MAGUK family. Proteins in the MAGUK family, including CASK, ZO-1, ZO-2, p55 and MPP2, are known to regulate cell proliferation, intracellular junctions and signaling pathways by interacting with the cytoskeleton. MPP3 contains one guanylate kinase-like domain, one PDZ domain, two L27 domains and one SH3 domain. Via the PDZ domain, MMP3 interacts with the C-terminus of TSLC1. MMP3 has also been found to interact with SR-2A and SR-4.

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Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD20A (ankyrin repeat domain-containing protein 20A) is an 823 amino acid protein that contains five ANK repeats. The gene encoding ANKRD20A maps to chromosome 9, which consists of about 145 million bases 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 characterized by harmful vascular defects, and familial dysautonomia are associated with chromosome 9. Also, 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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C8ORF59.

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Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD22 (ankyrin repeat domain 22) is a 191 amino acid protein that contains four ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, ANKRD22 is encoded by a gene that maps to human chromosome 10. Chromosome 10 encodes nearly 1,200 genes within 135 million bases, making up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.

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In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system.

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AML1/Runx1 binds DNA as a monomer and through the Runt domain. DNA binding is increased by heterodimerization with CBFB. Isoform AML1L can neither bind DNA nor heterodimerize and interferes with the transactivation activity of AML1/Runx1. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T cell receptor enhancers, LCK, IL3 and GMCSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. AML1/Runx1 is expressed in a wide variety of tissues and is expressed at the highest levels in thymus, bone marrow and peripheral blood. Defects in AML1/Runx1 are the cause of familial platelet disorder with associated myeloid malignancy, an autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.

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C9orf152 is a 239 amino acid protein encoded by a gene that maps to human chromosome 9q31.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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 characterized 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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Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity.

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The antimicrobial protein Bactericidal Permeability Increasing protein (BPI) is a 55 kDa protein found in the primary granules of polymorhonuclear leukocytes (PMN). The cytotoxicity action of BPI is limited to gram negative bacteria, reflecting the high affinity of BPI for bacterial LPS. Binding of BPI to live bacteria via LPS causes anti-infective activites: 1) cytotoxicity via sequential damage to bacterial outer and inner lipid membranes, 2) neutralization of gram-negative bacterial LPS, 3) opsonization of bacteria to enhance phagocytosis by neutrophils.

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This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012].

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Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Restricts the CLOCK and ARNTL/BMAL1 localization to the cytoplasm. Plays a role in both the input and output pathways of the circadian clock: in the input component, is involved in modulating the magnitude of photic entrainment and in the output component, contributes to the regulation of a variety of liver clock-controlled genes involved in lipid metabolism.

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Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.

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The exosome is a multi-protein complex composed of several highly conserved subunits, some of which are 3’ to 5’ exoribonucleases. The complex is involved in a variety of cellular processes and is responsible for degrading unstable mRNAs that contain AU-rich elements (AREs) in their untranslated 3’ regions. DIS3, also known as RRP44, is a 958 amino acid protein that localizes to both the cytoplasm and the nucleus and contains one PINc domain. Widely expressed with highest expression in testis, DIS3 functions as a component of the exosome exoribonuclease complex and is required for processing of 7S pre-RNA into a mature nuclear complex and, ultimately, for proper mitotic progression. Abnormal expression levels of DIS3 may be associated with colon cancer, suggesting a role for DIS3 in tumorigenesis. Multiple isoforms of DIS3 exist due to alternative splicing events.

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ZNF717

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Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis.

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HERC3 is a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role in regulating growth and differentiation of early B-lineage cells.

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ACTH stimulates the adrenal glands to release cortisol. MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes. Beta-endorphin and Met-enkephalin are endogenous opiates.

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Human SUG1 (also known as p45, Rpt6, Cim3 and PSMC5) is a component of the 19S regulatory subunit of the 26S proteosome complex. It is one of the AAA ATPas found in the 19S regulatory complex that is thought to participate in the unfolding of ubiquitinated proteins in an ATP dependent manner. It has also been shown to directly interact with the nucleotide excision repair protein XPB.