118484 Results for: "Butelki+i+butle&pageNo=30"

Supplier: Bioss

Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development (By similarity).

Supplier: Bioss

C9orf117 is a 520 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf117 maps to human chromosome 9q34.11. 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.

Supplier: Bioss

BEND2 is a 799 amino acid protein that contains two BEN domains. BEND2 exists as two alternatively spliced isoforms and is considered a complete proteome. BEN domain mediates protein–DNA and protein–protein interactions during chromatin organization and transcription. BEN domain may play a role in organization of viral DNA during replication or transcription. The BEND2 gene maps to human chromosome Xp22.13. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The X and Y chromosomes are the human sex chromosomes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.

Supplier: Bioss

Facilitator of innate immune signaling that promotes the production of type I interferon (IFN-alpha and IFN-beta). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm. Able to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon and exert a potent anti-viral state following expression. May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons. May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II). Mediates death signaling via activation of the extracellular signal-regulated kinase (ERK) pathway.

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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq]

Supplier: Bioss

ATF1 (Activating Transcription Factor 1, TREB-36) is a member of the ATF/CREB family of basic region leucine-zipper (bZip) DNA-binding proteins that regulates transcription by binding to a consensus cAMP response element (CRE) in the promoter of various viral and cellular genes. Many of these genes are important in cell growth and differentiation, and in stress and immune responses. The activation function of CRE-binding proteins may be modulated by phosphorylation of several kinases and is mediated by coactivators such as CREB-binding protein (CBP) and p300. ATF1 is a nuclear protein that binds DNA as a homodimer or as heterodimers with the inducible transcription factors CREB1 or CREM. Heterodimers appear to be stronger transcriptional activators than the homodimers. Tissue expression of ATF1 mRNA is widespread. Several isoforms of ATF1 arise by differential splicing. ATF1 mediates both Ca2+ and cAMP responses at several levels. It binds to the Tax-responsive element (TRE1) of the human T-cell lymphotropic virus type-I (HTLV1). ATF1 is detectable in metastatic melanoma cells and seems to contribute to their survival. A chimeric protein composed of the N-terminal domain of EWS (Ewing sarcoma oncogene) linked to the bZip domain of ATF1 is implicated in the rare malignant clear cell sarcoma of tendon sheath and aponeuroses (malignant melanoma of soft parts).

Supplier: Bioss

The PDGF Receptor Type A (Alpha platelet-derived growth factor receptor precursor, CD140a antigen), a 170kD protein, binds all three isoforms of PDGF with high affinity whereas the PDGF Receptor Type B, a 190kD protein, appears to bind only the PDGF BB homodimer with high affinity. Both receptors are transmembranous, ligand activated protein tyrosine kinases, which phosphorylate a number of important signal transduction proteins, which are bound with differential affinities via SH2 domains. The response of any given cell to PDGF will depend on the types of receptors displayed on the surface and isoforms of PDGF present in the extracellular environment.

Supplier: Apollo Scientific

Ethyl 3-oxo-3,4-dihydro-2H-1,4-benzoxazine-7-carboxylate

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Polycystin-1L3 is a 1,732 amino acid multi-pass membrane protein that contains one PLAT domain, one GPS domain and one C-type lectin domain. Expressed at high levels in placenta and present at lower levels in lung and heart, Polycystin-1L3 is thought to function as an ion-channel regulator that may interact with Polycystin-L and play a role in heteromeric taste channels. The gene encoding Polycystin-1L3 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.

Supplier: Bioss

The Tenascin family of extracellular matrix proteins includes Tenascin (also designated cytotactin or Tenascin-C), Tenascin-R (also designated Restrictin or Janusin) and Tenascin-X. Tenascin proteins function as substrate-adhesion molecules (SAMs) and are involved in regulating numerous developmental processes, such as morphogenetic cell migration and organogenesis. The Tenascin family proteins arise from various splicing events in the region of coding for FNIII repeats. Tenascin and Tenascin-X are expressed in several tissues during embryogenesis, and in adult tissues undergoing active remodel-ing such as healing wounds and tumors. Tenascin-R (TN-R) is expressed on the surface of neurons and glial cells.

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Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me).

Supplier: Bioss

Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.

Supplier: Apollo Scientific

Methyl-3-oxo-3,4-dihydro-2H-1,4-benzothiazine-6-carboxylate

Supplier: Bioss

The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. The mammalian HOX gene complex consists of 39 genes that are located on four linkage groups, which are dispersed over four chromosomes. HOX genes that occupy the same relative position along the 5’ to 3’ coordinate (trans-paralogous genes) are more similar in sequence and expression pattern than adjacent HOX genes on the same chromosome. HoxA3, in conjunction with Pax1, mediates the development of the thymus, parathyroid gland, and carotid body. Its expression in the third pharyngeal arch and pouch is required for development of the third arch artery, and homozygous null HoxA3 mutants lack the carotid body. HoxA3 also regulates hindbrain development by controlling the axon projection pattern of motor neurons and sensory neurons of the proximal and distal ganglia.

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Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs.

Supplier: Bioss

C2orf80

Supplier: Bioss

6 Phosphofructo 2 Kinase plays a role in the synthesis and degradation of fructose 2,6-bisphosphate. Fructose-2,6-bisphosphate acts as an allosteric regulator of 6-phosphofructo-1-kinase (PFK1), which catalyses a key step in the glycoytic pathway. Glycolytic flux is key to tumour growth, and small molecule inhibition of 6 Phosphofructo 2 Kinase suppresses both glycolytic flux and tumour growth. Several lines of evidence suggest that 6 Phosphofructo 2 Kinase is also involved in obesity.

Supplier: Bioss

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.

Supplier: Bioss

Proteins internalized into the endocytic pathway are usually degraded. Efficient proteolysis requires denaturation, induced by acidic conditions within lysosomes, and reduction of inter- and intrachain disulfide bonds. Cytosolic reduction is mediated enzymatically by thioredoxin. In the endocytic pathway, reduction of protein disulfide bonds is important for the generation of MHC class II-peptide complexes. This process is catalyzed by a gamma-interferon-inducible thiol reductase (GILT). GILT is synthesized as a precursor, and following delivery to MHC class II-containing compartments (MIICs), is processed to the mature form via cleavage of amino- and carboxy-terminal propeptides. A lysosomal thiol reductase, GILT, is optimally active at low pH and capable of catalyzing disulfide bond reduction both in vivo and in vitro. GILT is expressed constitutively in antigen-presenting cells and is induced by g-interferon in other cell types, suggesting a potentially important role in antigen processing. Additionally, T cell recognition of select exogenous and endogenous epitopes is dependent on tumor cell expression of GILT. The absence of GILT in melanomas alters antigen processing and the hierarchy of immunodominant epitope presentation.

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Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis.

Supplier: Bioss

Tau proteins are important Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. Tau proteins subcellular located in the axons of neurons, in the cytoso l and in association with plasma membrane components. It expressed in neurons. PNS-tau is expressed in the peripheral nervous system while the others are expressed in the central nervous system.

Supplier: Bioss

The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules.

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C5orf49 is a With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome. The C5orf49 gene product has been provisionally designated C5orf49 pending further characterization.

Supplier: Bioss

Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.

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Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 and SMC4. hCAP-D3 is a regulatory non-SMC subunit of the condensin II complex.

Supplier: Bioss

Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation. May act as a transcriptional repressor. Down-regulates CA9 expression.

Supplier: Bioss

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].

Supplier: Bioss

The downstream of kinase family (Dok-1-7) are members of a class of “docking” proteins that include the tyrosine kinase substrates IRS-1 and Cas, which contain multiple tyrosine residues and putative SH2 binding sites. Dok-4, Dok-5 and Dok-6 are more similar to each other than to the other Dok family members, and may constitute a subfamily of the DOK genes. Dok-5 is a tyrosine kinase substrate that enhances c-Ret-dependent activation of mitogen-activated protein kinase (MAPK). Dok-5 transcript is abundant in muscle and increases during T cell activation. Dok-5 protein undergoes tyrosine phosphorylation in response to insulin and insulin-like growth factor-1. Dok-6 is highly expressed in the developing central nervous system. It associates with Ret to transduce Ret-mediated processes such as axonal projection.

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Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin (PCDH) gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHGA9 (Protocadherin gamma-A9) is a 932 amino acid that is one of 22 proteins encoded by the protocadherin gamma cluster. The protocadherein gamma cluster consists of three subfamilies (A, B and C) and PCDHGA9 is a member of the gamma subfamily A. PCDHGA9 is a type I transmembrane receptor containing six cadherin motifs and is expressed in the central nervous system where it localizes to synapses. Members of the gamma cluster of protocadherins are essential for neuronal survival. There are two isoforms of PCDHGA9 that are produced as a result of alternative splicing events.

Supplier: Bioss

Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase (G6PC).