54782 Results for: "Ruthenium(III)+chloride+oxide&pageNo=48"

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Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex.

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No data available.

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Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes (By similarity). Plays a central role in microtubule-dependent cell motility via deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome. Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy.

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ANKRD17 is a 2,603 amino acid protein that contains 25 ankyrin repeats and one KH domain. ANKRD17 is expressed in bone marrow and is thought to be involved in liver development. ANKRD17 localizes to the cytoplasm and the nucleus. ANKRD17 exists as five alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 4. 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.

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Composed of more than ten subunits, the anaphase-promoting complex (APC) acts in a cell-cycle dependent manner to promote the separation of sister chromatids during the transition between metaphase and anaphase in mitosis. APC, or cyclosome, accomplishes this progression through the ubiquitination of mitotic cyclins and other regulatory proteins that are targeted for destruction during cell division. APC is phosphorylated, and thus activated, by protein kinases Cdk1/cyclin B and polo-like kinase (Plk). APC is under tight control by a number of regulatory factors, including CDC20, CDH1 and MAD2. Specifically, CDC20 and CDH1 directly bind to and activate the cyclin-ubiquitination activity of APCs. In contrast, MAD2 inhibits APC by forming a ternary complex with CDC20 and APC, thus preventing APC activation. APC10 contains a Doc1 homology domain, which is a beta-sandwich structure common to many other putative E3 ubiquitin ligases. APC10 binds to core APC subunits throughout the cell cycle. Specifically, APC10 binds to the C-terminus of CDC27/APC3. During mitosis, APC10 is localized in centrosomes and mitotic spindles. APC10 also localizes to kinetochores from prophase to anaphase, and to the midbody in telophase and cytokinesis.

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Wnt-induced secreted protein (WISP)-1, WISP-2 and WISP-3 are members of the CCN family of growth factors, which include connective tissue growth factor (CTGF) and Cyr61. WISP-1, WISP-2 and WISP-3 share significant sequence similarity, including four conserved cysteine-rich domains, and they are believed to function as dimers in their active forms. WISP-1 expression is observed in various tissues including adult heart, kidney and spleen, while WISP-2 expression predominates in skeletal muscle, colon and ovary. Both WISP-1 and WISP-2 are upregulated in cells transformed with the proto-oncogene Wnt-1, and they are also more highly expressed in human colon tumors, suggesting that these proteins may participate in tumor development. WISP-3 is involved in normal post-natal skeletal growth, and it is also implicated in the development of the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia, which affects cartilage homeostasis by disrupting the growth of chondrocyte and normal cell columnar organization.

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Stanniocalcin 1 (STC1) and stanniocalcin 2 (STC2) are mammalian peptide hormones that were previously considered to be present only in bony fish, where they are involved in calcium homeostasis. STC1 plays a role in calcium and phosphate homoeostasis and is phosphorylated in vitro by protein kinase C, and STC2 is phosphorylated in vitro by casein kinase II (CK2). A human fibrosarcoma cell line, HT1080, expresses both STC1 and STC2 as secreted phosphoproteins in vivo, with STC2 being phosphorylated by an ecto-CK2-like enzyme. STC1 and STC2 have opposite effects on calcium and phosphate homeostasis, namely anti-hypercalcemic and anti-hypocalcemic actions, respectively. STC1 and STC2 are detected in human adrenal tumors, such as pheochromocytoma, differentiated neuroblastoma aldosterone-producing adenoma, and in cultured adrenal tumor cells (rat pheochromocytoma PC-12 cells and human neuroblastoma NB-1 cells).

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Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

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Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis.

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RSHL3 is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. RSHL3 (radial spoke head-like protein 3), also known as radial spoke head protein 4 homolog A, is a 716 amino acid protein that belongs to the flagellar radial spoke RSP4/6 family. Mutations in the RSHL3 gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Existing as three alternatively spliced isoforms, the RSHL3 gene contains 6 exons, is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly and P.falciparum, and maps to human chromosome 6q22.1.

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MAGEB4

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PTCHD2 is a 1,392 amino acid multi-pass membrane protein that contains one SSD (sterol-sensing) domain and belongs to the patched family. Expressed in retina, brain and testis, PTCHD2 localizes to endoplasmic reticulum and colocalizes with cholesterol. PTCHD2 overexpression leads to increased cholesterol levels, suggesting that PTCHD2 may play a role in cholesterol homeostasis. PTCHD2 is further hypothesized to act as a link between thyroid hormone and cholesterol metabolism. Existing as two alternatively spliced isoforms, PTCHD2 is thought to assist in the release of lipid-anchored secreted proteins and is encoded by a gene that maps to human chromosome 1p36.22.

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Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression.

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The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF180 (ring finger protein 180), also known as Rines, is a 592 single-pass membrane protein that contains a single RING-type zinc finger. Expressed as three alternatively spliced isoforms, RNF180 is well conserved among vertebrates. RNF180 is expressed in brain, kidney, testis and uterus and localizes to the endoplasmic reticulum. RNF180 is an E3 ubiquitin ligase involved in the ubiquitin-proteasome pathway. RNF180 is encoded by a gene located on human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm, or of chromosome 5 altogether, is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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C19orf28, also known as PP3501, is a multi-pass membrane protein that belongs to the major facilitator superfamily. The gene encoding C19orf28 localizes to chromosome 19 and, due to alternative splicing events, C19orf28 exists as two isoforms. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3. The C19orf28 gene product has been provisionally designated C19orf28 pending further characterization.

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Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23.

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Carries out a dual function: signal transduction and activation of transcription. Binds to the GAS element and activates PRL-induced transcription.

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Notch receptors are involved in cell-fate determination in organisms as diverse as flies, frogs, and humans (1). The 'mastermind' gene has been identified in multiple genetic screens for modifiers of Notch mutations in Drosophila melanogaster (2). In Drosophila, loss-of-function mutations of Notch produce a 'neurogenic' phenotype in which cells destined to become epidermis switch fate and differentiate to neural cells (2). The human homolog, mastermind-like 1 (Mam1), localizes to nuclear bodies (2-4). Mam1 binds to the ankyrin repeat domain of all four mammalian Notch receptors, forms a DNA-binding complex with ICN and RBP-Jk, and amplifies Notch-induced transcription of Hes1 (2). Mam1 is an essential component of the transcriptional apparatus of Notch signaling (5). The gene which encodes Mam1 maps to human chromosome 5 (4).

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FRMPD1 has been identified as a regulatory binding partner of activator of G-protein signaling 3 (AGS3).

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Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT). Plays a role in the proteolytic processing of ACE2.

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May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide.

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GPRASP2.

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Possible involvement in extravasation of leukocytes.

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C6ORF199.

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DERP6, is a 316 amino acid protein that localizes to the cytoplasm and exists as multiple alternatively spliced isoforms. Expressed ubiquitously with highest expression in liver, heart, testis, brain and skeletal muscle, DERP6 is thought to be involved in p53-mediated transcriptional regulation. The gene encoding DERP6 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.

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The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene.

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Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). Is required for PARK2 recruitment to dysfunctional mitochondria. Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress. Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions.

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HIGD1B.

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Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly.Tissue specificity: Widely expressed. Present in fetal placenta, liver, kidney, pancreas, heart and skeletal muscle. Also found in adult cell lines.

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Syntaxins were originally thought to be docking proteins, but have more recently been categorized as anchoring proteins that anchor themselves to the cytoplasmic surfaces of cellular membranes. Syntaxins have been shown to bind to various proteins involved in exocytosis, including VAMPs (vesicle-associated membrane proteins), NSF (N-ethylmaleimide-sensitive factor), SNAP 25 (synaptosomal-associated protein of 25kDa), SNAPs (soluble NSF attachment proteins) and synaptotagmin. VAMPs (also designated synaptobrevins), including VAMP-1 and VAMP-2, and synaptotagmin, a protein that may function as an inhibitor of exocytosis, are vesicular proteins.