118510 Results for: "Butelki+i+butle&pageNo=30"

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Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf195 gene product has been provisionally designated C6orf195 pending further characterisation.

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C1orf181

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ZNF318 is a 2279 amino acid endocrine regulatory protein that localizes to the nucleus. Highly expressed in testis, ovaries and kidneys, ZNF318 is a co-repressor of androgen receptor (AR)-mediated transcriptional activation and is thought to regulate transcription during spermatogenesis. ZNF318 interacts with the N-terminal domain of AR and contains two matrin-type zinc fingers. Two isoforms of ZNF318, designated TZF and TZF-L, are produced due to alternative splicing events. Each of these splice variants are thought to have unique roles in transcriptional regulation. While the TZF isoform functions as a repressor of AR-mediated transcriptional activation, the TZF-L isoform is thought to enhance AR-mediated transcriptional activation.

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The ADCY4 gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants.

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WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008].

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C3orf20 (chromosome 3 open reading frame 20), also known as DKFZp434N1817, is a 904 amino acid single-pass membrane protein that exists as two alternatively spliced isoforms. C3orf20 is encoded by a gene that maps to human chromosome 3p25.1. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.

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Identifies cytotoxic/suppressor T-cells that interact with MHC class I bearing targets. CD8 is thought to play a role in the process of T-cell mediated killing. CD8 alpha chains binds to class I MHC molecules alpha-3 domains.

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Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation (By similarity).

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This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, adevelopmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008].

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SLAIN1 is a 561 amino acid member of the SLAIN motif-containing family and is expressed in embryonic stem cells, as well as in lung, brain and testis, where it exists as two alternatively spliced isoforms. The gene encoding SLAIN1 maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. 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 deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.

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FBL3B is a 434 amino acid protein encoded by the human gene FBXL21. FBL3B contains one 40 amino acid F-box region, making it a member of the F-box family. FBL3B also contains three LRR (leucine-rich) repeats. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein) type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. F-box proteins are members of a large family that regulates cell cycle, immune response, signaling cascades and developmental programs by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IkB-a and b-catenin, for degradation by the proteasome after ubiquitination. FBL3B is a substrate-recognition component of the SCF complex that interacts with Skp1 p19 and CUL-1. FBL3B is also associated with expression and regulation of circadian and cryptochrome proteins.

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The sense of taste is essential for the survival of organisms. For example, the ability to identify sweet-tasting foods enables animals to seek out food with high nutritive value, whereas the ability to identify bitter substances enables them to avoid the ingestion of potentially harmful substances. A family of integral membrane proteins are involved in taste perception and include T1R, which is involved in sweet taste perception and T2R, which is involved in bitter taste perception. Both types of taste receptors couple to various G proteins to initiate signal transduction cascades. Specifically, T2R50 is expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells.

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CD7 is a 40 kDa transmembrane, single-chain glycoprotein, which is a member of the immunoglobulin superfamily. CD7 is expressed by the majority of thymocytes and mature T cells, NK cells and pre-B cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. The function of CD7 is not yet known although cross-linking of CD7 with induces a T cell transmembrane calcium flux and CD7 expression is induced by ionomycin. The CD7 molecule has been reported to be the receptor for the IgM-Fc portion (FcR mu) on the surface of T cells.

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Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase.

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MARCKS, (Myristoylated Alanine-Rich C Kinase Substrate), is a member of a family of calmodulin binding proteins and is a major substrate for phosphorylation by protein kinase C (PKC). The phosphorylation of Ser152/156 can be used as a measure of PKC activation. Phosphorylation of Ser152/156 modulates the binding of MARCKS to calmodulin.

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Glucagon plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes. GLP-1 is a potent stimulator of glucose-dependent insulin release. Play important roles on gastric motility and the suppression of plasma glucagon levels. May be involved in the suppression of satiety and stimulation of glucose disposal in peripheral tissues, independent of the actions of insulin. Have growth-promoting activities on intestinal epithelium. May also regulate the hypothalamic pituitary axis (HPA) via effects on LH, TSH, CRH, oxytocin, and vasopressin secretion. Increases islet mass through stimulation of islet neogenesis and pancreatic beta cell proliferation. Inhibits beta cell apoptosis. GLP-2 stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability. Oxyntomodulin significantly reduces food intake. Inhibits gastric emptying in humans. Suppression of gastric emptying may lead to increased gastric distension, which may contribute to satiety by causing a sensation of fullness. Glicentin may modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life.

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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. Zinc finger and BTB domain-containing protein 48 (ZBTB48), also known as Kruppel-related zinc finger protein 3 or HKR3, is a 688 amino acid member of the Krüppel C2H2-type zinc-finger protein family. Localized to the nucleus, ZBTB48 is expressed in the adrenal gland and neuroblastoma cell lines. ZBTB48 contains a BTB domain, also known as a POZ domain, which inhibits DNA binding and mediates homotypic and heterotypic dimerization. Characteristics of the BTB domain suggest that ZBTB48 functions as a transcription regulator.

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NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency.

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Fanconi Anemia (FANC) is a human autosomal-recessive cancer susceptibility disorder characterized by congenital defects, progressive bone marrow failure, and cellular hypersensitivity to mitomycin C (MMC). The FANC subunit D2 protein is vital for cellular resistance to DNA cross-linking and the arrest of DNA synthesis after ionizing radiation.DNA damage activates the monoubiquitination of FANC D2, targeting nuclear foci containing the BRCA 1 protein.

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Synthesizes the second messagers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity (By similarity).

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May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.

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Munc18 may participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP binding proteins. It is essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Munc18 can interact with syntaxins 1, 2, and 3 but not syntaxin 4. It may play a role in determining the specificity of intracellular fusion reactions.Mutations in Munc18 can result in accumulations of acetylcholine and paralytic phenotype suggestive of a neurotransmitter release defect. Two Munc18 isoforms have recently been identified. Munc18-1 has been shown to be primarily expressed in brain, while Munc18-2 is expressed in most tissues.

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This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011].

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Bad is a member of the Bcl2 family and acts to promote apoptosis by forming heterodimers with the survival proteins Bcl2 and BclxL, thus preventing them from binding with BAX. Bad is found on the outer mitochondrial membrane and, once phosphorylated in response to growth stimuli, translocates to the cytoplasm. The phosphorylation status of Bad represents a key checkpoint for death or cell survival. JNK-induced phosphorylation of BAD serine 128 promotes the apoptotic role of Bad by opposing the inhibitory effect of growth factor on Bad-mediated apoptosis. Cdc2-induced phosphorylation of Bad serine 128 has an inhibitory effect on its interaction with 14-3-3 proteins. The latter interaction is critical for Bad phosphorylation at serine 155, a site within the BH3 domain that leads to the release of BclxL and the promotion of cell survival. Alternative splicing of this gene results in two transcript variants which encode the same isoform.This antibody recognise the phosphorylation site of human Ser75, mouse Ser111, rat Ser112.

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Hemostasis following tissue injury involves the deployment of essential plasma procoagulants (Prothrombin and Factors X, IX, V and VIII), which are involved in a blood coagulation cascade that leads to the formation of insoluble Fibrin clots and the promotion of platelet aggregation. Coagulation Factor X (Stuart Prower factor, FX, F10) is a vitamin K-dependent, single chain serine protease that is synthesized in the liver and circulates as an inactive precursor. The mature form of Factor X (Factor X A) is generated by Factor IX A- or Factor VII A-mediated cleavage at the tripeptide sequence, Arg-Lys-Arg, to yield a disulfide linked dimer. Together with the cofactor Factor V A and Ca2+ on the surface of platelets or endothelial cells, Factor X A coordinates as part of the prothrombinase complex, which mediates proteolysis of Prothrombin into active Thrombin. Mutations at the Factor X locus resulting in Factor X deficiencies can contribute to hemorrhagic diathesis.

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ACSF1 is a 672 amino acid protein belonging to the ATP-dependent AMP-binding enzyme family. Encoded by a gene that maps to human chromosome 12q24.31, ACSF1 is highly expressed in kidney, heart and brain, and shows similar neural expression as HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase). Existing as three alternatively spliced isoforms, ACSF1 participates in ATP binding, ligase activity, acetoacetate-CoA ligase activity and nucleotide binding. The ACSF1 promoter is a known PPAR?target gene, with the nuclear receptor recruited to the ACSF1 promoter by direct interaction with stimulating protein-1 (Sp1). ACSF1 activates acetoacetate and is highly regulated by modulators that affect HMGCR and cholesterol biosynthesis.

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Chromosome 9 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 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. The KIAA1529 gene product has been provisionally designated KIAA1529 pending further characterization.

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eIF4B is required for the binding of mRNA to ribosomes. It functions in close association with eIF4F and eIF4A. It binds near the 5'-terminal cap of mRNA in the presence of eIF4F and ATP. It promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both eIF4A and eIF4F (referenced from swissprot).

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PTCHD3 is a 767 amino acid multi-pass membrane protein that localizes to the midpiece of the sperm tail, where it is implicated in sperm function and development. A member of the patched family, PTCHD3 contains one SSD (sterol-sensing) domain and is encoded by a gene that maps to human chromosome 10p12.1. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. 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 some of the 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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NF-1, also designated CTF, consists of a family of CCAAT box binding proteins that stimulate DNA replication and activate transcription. Analysis of human NF-1 messenger RNA has revealed two forms of the NF-1 protein arising from an alternate splicing of a single NF-1 gene. NF-1 binds its consensus DNA element as a homodimer via an amino-terminal DNA binding domain, and activates transcription through a putatively novel, proline-rich, carboxy terminal transactivation domain. The NF-1 protein has been shown to recognize and bind the adenovirus type 2 promoter and activate transcription of herpes simplex virus thymidine kinase genes. The NF-1 consensus element has been found in the upstream promoter region of myriad eukaryotic genes, including that of Ha-Ras, alpha-globin, HSP 70, GRP 78, Histone H1, myelin basic protein and in the Xenopus laevis vitellogenin gene promoter.