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Description:
mTOR controls cell growth, in part by regulating p70 S6 kinase alpha (p70alpha) and eukaryotic initiation factor 4E binding protein 1 (4EBP1). Raptor is a 150 kDa mTOR binding protein that also binds 4EBP1 and p70alpha. The binding of Raptor to mTOR is necessary for the mTOR-catalyzed phosphorylation of 4EBP1 in vitro, and it strongly enhances the mTOR kinase activity toward p70alpha. Rapamycin or amino acid withdrawal increases, whereas insulin strongly inhibits, the recovery of 4EBP1 and raptor on 7-methyl-GTP Sepharose. Partial inhibition of raptor expression by RNA interference (RNAi) reduces mTOR-catalyzed 4EBP1 phosphorylation in vitro. RNAi of C. elegans raptor yields an array of phenotypes that closely resemble those produced by inactivation of Ce-TOR. Thus, raptor is an essential scaffold for the mTOR-catalyzed phosphorylation of 4EBP1 and mediates TOR action in vivo.
Description:
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway.
Description:
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
Description:
The Raf family of serine/threonine specific kinases is comprised of three members (aRaf, bRaf, and cRaf) that play a critical role in regulating cell growth and differentiation, and couple growth factor receptor stimulation to nuclear transcription factors via the Ras/mitogen activated protein kinase (MAPK) pathway. cRaf kinase (also known as Raf1) is a small GTPase like kinase of 73 kDa, and is a signal transducer of multiple extracellular stimuli that is regulated by several pathways, and that once activated, phosphorylates MEK which in turn phosphorylates ERK. Raf1 is involved in the transduction of mitogenic signals from the cell membrane to the nucleus. It is part of the Ras dependent signaling pathway from receptors to the nucleus.
Description:
Members of the myogenic determination family are basic helix-loop-helix (bHLH) proteins that can be separated into two classes, both of which work together to activate DNA transcription. Class A proteins include the ubiquitously expressed E-box binding factors, namely E2A, ITF-2 and HEB, while class B proteins, such as MyoD, myogenin and Neuro D (BETA2), are transiently expressed and exhibit a much more limited tissue distribution. Working in opposition to these positively acting factors are a specialized group of basic helix-loop-helix (bHLH) transcription factors that function as dominant negative regulators and are involved in cell lineage determination and differentiation. Neuro D2 (neurogenic differentiation 2), also known as NDRF, NEUROD2 or bHLHa1, is a 382 amino acid nuclear protein that contains one bHLH domain and functions to induce neurogenic differentiation, playing an important role in the maintenance and determination of cell fate.
Description:
Meteorin is a secreted protein belonging to the Meteorin family that contains 293 amino acids and promotes axonal extension, axonal network formation and regulates glial cell differentiation. Expressed in radial glia and undifferentiated neural progenitors of the central and peripheral nervous system, Meteorin is encoded by a gene located on human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN (Gigaxonin) 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.
Description:
The C. elegans protein Unc-115 mediates axon guidance by modulating the growth cone Actin cytoskeleton in response to signals received by growth cone receptors. The mammalian homolog of Unc-115 is the Actin-binding LIM protein family member 1 (ABLIM1, also designated Limatin). The ABLIM1 protein has an N-terminal domain that contains four double zinc finger motifs, which conform to the LIM motif consensus sequence. ABLIM1 binds to F-Actin through a dematin-like domain and is expressed in retina, brain and muscle tissue. There are four known isoforms of ABLIM1. The gene encoding ABLIM1 maps to a region of chromosome 10 associated with frequent loss of heterozygosity in human tumors, thus identifying ABLIM1 as a candidate tumor suppressor gene. ABLIM2 and ABLIM3 show highest expression in muscle and neuronal tissues, bind to F-Actin, and are localized on stress fibers. They also have been shown to enhance STARS (striated muscle activator of Rho signaling) dependent activation of serum-response factor (SRF), thereby modulating transcription.
Description:
Betacellulin (BTC), a member of the epidermal growth factor (EGF) family, was originally identified as a growth-promoting factor in the conditioned medium of a mouse pancreatic-cell carcinoma (insulinoma) cell line and has since been identified in humans. BTC is synthesized as a large transmembrane precursor molecule that can be cleaved proteolytically to release the soluble form of BTC or function as membrane-anchored growth factors in juxtacrine signaling. BTC, in addition to stimulating homodimers of ErbB-1 and ErbB-4, is capable of binding and activating all possible combinations of heterodimeric ErbB receptors including the oncogenic ErbB-2/ErbB-3 complex. BTC is also expressed in some human malignancies and may have an important role in tumor growth progression.
Description:
Paraneoplastic neurological disorders (PNDs) are rare syndromes that are caused by, or associated with, an underlying neoplasm. The most common neoplasm among young male patients is testicular cancer, but the leading cause among other patients is lung cancer. Most PNDs are caused by an immune response against onconeural antigens, causing progressive neurological damage. The paraneoplastic antigen MA family contains three known members: MA1, MA2 and MA3. MA1, also designated neuron- and testis-specific protein 1, is a nucleolar protein in normal cells but localizes to the cytoplasm of tumor cells. MA2, also designated onconeuronal antigen MA2, is a nucleolar protein expressed in brain and testis. MA3 is highly expressed in brain and testis and is expressed at low levels in heart, trachea and kidney.
Description:
Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 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 C6orf174 gene product has been provisionally designated C6orf174 pending further characterization.
Description:
GTP-binding protein 9 is a 396 amino acid protein that belongs to the Obg-related GTPase family under the translation factors (TRAFAC) class. Originally thought to only have GTPase activity, Obg-related GTPase family members have been shown to also have ATPase activity. In Homo sapians, GTPBP9 exhibits a preference for binding ATP over GTP, with GTP binding occuring only at high nucleotide concentration. One cause for ATP affinity and GTP discrimination is thought to be a substitution of glutamine for a hydrophobic amino acid in Obg-related family members; this is the same substitution that inactivates Ras-like GTPases. GTPBP9 contains a C-terminal TGS domain that binds to ligands and an N-terminal G domain which binds nucleotides. GTPBP9 is expressed as three isoforms produced by alternative splicing.
Description:
The GLTP (glycolipid transfer protein) superfamily is defined by a unique lipid transfer/binding fold (GLTP fold) that accelerate glycolipid intermembrane transfer. GLTPD2 is a 291 amino acid protein that belongs to the GLTP family. The gene encoding GLTPD2 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, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth are both linked to mutations on chromosome 17. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.
Description:
The immunophilins are a highly conserved family of cis-trans peptidyl-prolyl isomerases that bind to and mediate the effects of immunosuppressive drugs, such as cyclosporin, FK506 and rapamycin. Immunophilins have also been implicated in protein folding and trafficking within the endoplasmic reticulum (ER). FKBP11 (FK506-binding protein 11), also known as FKBP19 or peptidyl-prolyl cis-trans isomerase FKBP11, is a 201 amino acid single-pass membrane protein belonging to the FKBP-type PPIase family, a group of proteins known to catalyze the folding of proline-containing polypeptides. Containing one PPIase FKBP-type domain, FKBP11 is expressed in secretory tissues such as pancreas, pituitary, stomach, lymph node and salivary gland, and is encoded by a gene that maps to human chromosome 12q13.12. FK506 and rapamycin are known to inhibit FKBP11’s peptidyl-prolyl isomerase activity.
Description:
Caspase-6 Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death. Subunit is compose of heterodimer of a18 kDa (p18) and a 11 kDa (p11) subunit. Subcellular location at cytoplasmic. Cleavages by CPP32, caspase-8 or -10 generate the two active subunits. It belongs to the peptidase C14 family.
Description:
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Promotion
,BOSSBS-13165REA
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