110512 Results for: "4-Iodosalicylic+acid&pageNo=30"

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C19orf46 is a 404 amino acid single-pass type IV membrane protein that belongs to the nesprin family. C19orf46 partcipates in the establishment of secretory epithelial morphology by inducing kinesin-dependent apical migration of the centrosome and Golgi apparatus as well as basal localization of the nucleus. C19orf46 interacts with UKHC and KCL1, and exists as two alternatively spliced isoforms. C19orf46 contains a KASH domain, which consists of a transmembrane motif, mediates nuclear enevelop targeting and binds to the SUN domain of SUN1 and SUN2. C19orf46 is encoded by a gene located on human chromosome 19, which consists of approximately 63 million bases and makes up over 2% of human genomic DNA.

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Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity).

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Component of some MITRAC complex, a cytochrome c oxidase (COX) assembly intermediate complex that regulates COX assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly.

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Nova-1 and Nova-2 are members of a superfamily of protein regulators of RNA metabolism in neurons. Both are nuclear RNA binding proteins with K homology motifs, conserved protein sequences which bind to RNA (1,2). Nova proteins, normally sequestered in the central nervous system, are expressed by systemic tumors in patients with the autoimmune disorder paraneoplastic opsoclonus-myoclonus ataxia (POMA) (3,4). Nova-1 is expressed in the hindbrain and ventral spinal cord and Nova-2 is expressed in the neocortex and hippocampus (4). Nova-1 is necessary for regulating neuron-specific alternative splicing of the glycine receptor Alpha2 pre-mRNA (5).

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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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This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].

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Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.

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This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012].

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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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Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq].

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The Myc family, including c-Myc-, N-Myc- and L-Myc, are nuclear proteins with relatively short half lives that contribute an important role in cellular processes such as proliferation, differentiation, apoptosis and transformation. The c-Myc protein activates transcription as part of a heteromeric complex with a number of interacting partners, including Max and Mxi 1; however the transforming properties of the Myc proto-oncogene are believed to be associated with Myc-mediated transcriptional repression. A POZ domain Zn finger protein, designated Miz-1 for Myc-interacting Zn finger protein-1, is a specific target of Myc-induced gene repression. Miz-1 interacts with Myc, but not Max or other Myc partners, and binding of Myc to Miz-1 requires the helix-loop-helix domain of Myc and a short amphipathic helix located in the carboxy-terminus of Miz-1. Miz-1 associates with DNA elements on the adenovirus major late and cyclin D1 promoters and activates transcription of both promoters. Expression of Miz-1 induces potent growth arrest function, and this latency is reversed by the addition of Myc.

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf122 gene product has been provisionally designated C1orf122 pending further characterization.

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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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Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity).

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Myb-Related Protein B (MYBL2), a member of the MYB family of transcription factor genes, is a nuclear protein involved in the regulation of cell survival, proliferation, and differentiation. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes.Subunit

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Lipin 1 is a member of the Lipin family of nuclear proteins. This family contains three members: Lipin 1, Lipin 2 and Lipin 3, all of which contain a nuclear signal sequence, a highly conserved amino-terminal (NLIP) domain and a carboxy-terminal (CLIP) domain. LPIN1 (Lipin 1) is crucial for normal adipose tissue development and metabolism. LPIN1 selectively activates a subset of PGC1 alpha target pathways, including fatty acid oxidation and mitochondrial oxidative phosphorylation by inducing expression of the nuclear receptor PPARalpha. LPIN1 also inactivates the lipogenic program and suppresses circulating lipid levels. An abundance of LPIN1 promotes fat accumulation and insulin sensitivity, whereas a deficiency in LPIN1 may deter normal adipose tissue development, resulting in insulin resistance and lipodystrophy, a heterogeneous group of disorders characterized by loss of body fat, fatty liver, hypertriglyceridemia and insulin resistance.

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C8orf84.

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The DCDC2 gene encodes the DCDC2 protein (Doublecortin-containing protein 2, RU2, RU2S) which contains two Doublecortin peptide domains similar to those in the Doublecortin gene. DCDC2 is transcribed as a “normal” gene, which results in a sense transcript (RU2S), but when it is transcribed in the opposite direction, a shorter antisense transcript (RU2AS), which is found in tumors, results. The DCDC2 protein demonstrates ubiquitous expression, whereas RU2AS expression is restricted to normal kidney, bladder, liver and testis, and to tumors of various histologic origins. The deduced DCDC2 protein contains 476 amino acids, while the RU2AS protein contains 84 residues. There is a significant association between dyslexia and several SNPs within the DCDC2 gene.

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Neuronal axonal membrane protein Nap-22, also designated neuronal tissue-enriched acidic protein or brain acid soluble protein (BASP1), is a Ca2+-dependent calmodulin-binding protein that is important for neuronal sprouting and plasticity. Nap-22 is abundant in brain nerve terminals and is also present in significant amounts in kidney, testis and lymphoid tissue. Nap-22 undergoes N-terminal myristoylation for membrane localization. It has been characterized as a major protein of neuronal rafts, which are known to preferentially bind membranes containing cholesterol. Nap-22 is a crucial protein active in neurite outgrowth and synaptic plasticity.

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Protein kinases are enzymes that transfer a phosphate group from a phosphate donor onto an acceptor amino acid in a substrate protein. By this basic mechanism, protein kinases mediate most of the signal transduction in eukaryotic cells, regulating cellular metabolism, transcription, cell cycle progression, cytoskeletal rearrangement and cell movement, apoptosis, and differentiation. The protein kinase family is one of the largest families of proteins in eukaryotes, classified in 8 major groups based on sequence comparison of their tyrosine (PTK) or serine/threonine (STK) kinase catalytic domains. Epidermal Growth factor receptor (EGFR) is the prototype member of the type 1 receptor tyrosine kinases. EGFR overexpression in tumors indicates poor prognosis and is observed in tumors of the head and neck, brain, bladder, stomach, breast, lung, endometrium, cervix, vulva, ovary, esophagus, stomach and in squamous cell carcinoma.

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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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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.

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Myotrophin (V-1 protein) is a ubiquitously expressed cytoplasmic protein that can translocate to the nucleus during sustained NFkB activation. The gene encoding for this protein localizes to chromosome 7q33. Myotrophin may be involved in cerebellar morphogenesis and contains an acetylated N-terminus and 2.5 internal 33 amino acid ankyrin repeats. It is important in the differentiation of cerebellar neurons, particularly of granule cells. The 117 amino acid protein has been associated with, and able to induce, cardiac hypertrophy. Myotrophin increases protooncogene, ANF and Beta-Myosin heavy chain transcript levels. Myotrophin is upregulated when myocytes undergo cyclic stretch or are treated with tumor necrosis factor Alpha (TNF Alpha) or interleukin-1Beta. Highest levels of Myotrophin are detected in brain and lowest levels in skeletal muscle.

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Negative regulator of MYD88- and TRIF-dependent toll-like receptor signaling pathway which plays a pivotal role in activating axonal degeneration following injury. Promotes Wallerian degeneration an injury-induced axonal death pathway which involves degeneration of an axon distal to the injury site. Can activate neuronal death in response to stress. Regulates dendritic arborization through the MAPK4-JNK pathway. Involved in innate immune response. Inhibits both TICAM1/TRIF- and MYD88-dependent activation of JUN/AP-1, TRIF-dependent activation of NF-kappa-B and IRF3, and the phosphorylation of MAPK14/p38.

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The protein encoded by this gene is a member of the S100family of proteins containing 2 EF-hand calcium-binding motifs.S100 proteins are localized in the cytoplasm and/or nucleus of awide range of cells, and involved in the regulation of a number ofcellular processes such as cell cycle progression anddifferentiation. S100 genes include at least 13 members which arelocated as a cluster on chromosome 1q21. This protein may have atumor suppressor function. Chromosomal rearrangements and alteredexpression of this gene have been implicated in breast cancer.

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KCNF1 is a multi-pass membrane-bound protein that acts as an ion channel and is generally expressed as a heterotetramer of potassium channeling proteins. Formerly known as kH1, KCNF1 is usually found as a heteromer with three other potassium channel proteins, KCNG3, KV6.3 and KCNV2. As a potassium channel protein, KCNF1 plays a role in regulating apoptosis and proliferation of pulmonary artery smooth muscle (PASM) cells. Bone morphogenetic proteins (BMPs) restrict proliferation and can induce apoptosis in normal human PASM cells and will upregulate expression of KCNF1 in PASM cells in vitro. KCNF1 is expressed in heart, brain, liver, skeletal muscle, kidney and pancreas.

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Biotin, also known as vitamin B7, is an essential water-soluble vitamin that is a cofactor in glucogenesis and in the metabolism of fatty acids and leucine. Biotinidase is a 523 amino acid enzyme that catalyzes the hydrolysis of biocytin to biotin and lysine. Secreted into extracellular space, biotinidase is expressed in liver, heart, placenta, brain, skeletal muscle, pancreas and kidney. Biotinidase contains one carbon-nitrogen hydrolase domain, which is involved in the reduction of organic nitrogen compounds and ammonia production. Defects in the gene encoding biotinidase are the cause of biotinidase deficiency, which is characterized by skin rash, ataxia, seizures, hearing loss, hypotonia and optic atrophy. These symptoms are due to the individual’s inability to reutilize biotin and can, therefore, typically be treated with the addition of free biotin.

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CYP51A1 is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyse many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalysing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene.

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ODF3B, also known as ODF3L3 (outer dense fiber protein 3-like protein 3), is a 253 amino acid protein belonging to the ODF3 family. Existing as two isoforms produced by alternative splicing, ODF3B contains one DUF1309 repeat. The gene that encodes ODF3B maps to human chromosome 22, which contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.

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This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined.