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5-Bromobenzo[1,3]dioxole-4-carboxylic+acid
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5-Bromobenzo[1,3]dioxole-4-carboxylic+acid
Catalog Number:
(10337-544)
Supplier:
Bioss
Description:
E3 ubiquitin-protein ligase that regulates several biological processes through ubiquitination of various target proteins. Depending on the associated E2 ligase, mediates 'Lys-48'- and 'Lys-63'-linked polyubiquitination of substrates. Through their polyubiquitination, may play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4. May also be part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. May provide the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the mislocalized proteins and their targeting to the proteasome (PubMed:24981174). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564).
Catalog Number:
(10328-948)
Supplier:
Bioss
Description:
Collapsin response mediator proteins (CRMPs) are cytosolic phosphoproteins involved in neuronal differentiation and axonal guidance. CRMP2 was previously shown to mediate the repulsive effect of Sema3A on axons and to participate in axonal specification. The CRMPs appear to play a complex role in axon growth as well as microtubule dynamics and axon induction. CRMPs localize to the lamellipodia and filopodia of axonal growth cones, suggesting a role in axon guidance. Moreover, CRMP2 is upregulated after axotomy, and appears to increase the formation of axon-type processes from hippocampal neurons. CRMP2 has been reported to bind tubulin dimers directly and modulate microtubule assembly. CRMPs have also been implicated in the pathogenesis of a paraneoplastic neurologic syndrome. Interaction studies have implicated phospholipase D2 (PLD2), the cytosolic tyrosine kinase Fes, and intersectin in CRMP function. Hyperphosphorylation of CRMP2 is an early event in the progression of Alzheimer's disease.
Catalog Number:
(10303-614)
Supplier:
Bioss
Description:
Chloride channels (CLCs) regulate cellular traffic of chloride ions, a critical component of all living cells. CLCs are involved in membrane potential stabilization, signal transduction, cell volume regulation and organic solute transport. The putative 247 amino acid protein chloride intracellular channel 2 (CLIC2), also designated XAP121, shares 60% identity with the CLIC1 protein and demonstrates expression in only fetal liver and adult skeletal muscle tissues. The CLIC2 gene maps to chromosome Xq28 and contains 6 exons. Because a direct association exists between a number of human chloride channel genes and a range of hereditary diseases, CLIC2 is a potential candidate for one of the many diseases linked to Xq28. The hereditary form of incontinentia pigmenti (IP2), for example, is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm that has been linked to Xq28
Catalog Number:
(10253-000)
Supplier:
Bioss
Description:
The endothelin (ET) family of proteins, which includes ET-1 (endothelin-1), ET-2 (endothelin-2) and ET-3 (endothelin-3), are vasoactive peptides that are involved in various functions throughout the body. Endothelins can affect the central nervous system and neuronal excitability, and they elicit potent vasoconstrictor action. While ET-1 is a potent, 21-amino acid vasoconstrictor peptide, ET-2 has the most potent vasoconstrictor activity. ET-3 functions as a ligand for endothelin receptor type B (ETBR) and, through this interaction, mediates the maturation of enteric neurons and melanocytes. Although ET-3 is expressed as a 238 amino acid peptide, it is post-translationally modified to produce a short active isoform and a long inactive isoform. Defects in the gene encoding ET-3 are the cause of a variety of disorders, including Hirschsprung disease type 1 (HSCR1), congenital central hypoventilation syndrome (CCHS) and Waardenburg syndrome type IV (WS4).
Catalog Number:
(10237-394)
Supplier:
Bioss
Description:
The cell division control protein cdc2, also known as cyclin dependent kinase 1 (Cdk1) or p34/cdk1, plays a key role in the control of the eukaryotic cell cycle, where it is required for entry into S phase and mitosis. Cdc2 exists as a complex with both cyclin A and cyclin B. The best characterized of these associations is the Cdc2 p34 cyclin B complex, which is required for the G2 to M phase transition. Activation of Cdc2 is controlled at several steps including cyclin binding and phosphorylation of threonine 161. However, the critical regulatory step in activating cdc2 during progression into mitosis appears to be dephosphorylation of Tyr15 and Tyr14. Phosphorylation at Tyr15 and inhibition of Cdc2 is carried out by WEE1 and MIK protein kinases while Tyr15 dephosphorylation and activation of Cdc2 is carried out by the cdc25 phosphatase. The isoform CDC2deltaT is found in breast cancer tissues. Furthermore, cdc2/Cdk1 is a key mediator of neuronal cell death in brain development and degeneration.
Catalog Number:
(10282-250)
Supplier:
Bioss
Description:
COPA (alpha-coat protein) is processed to produce Xenin. Xenin stimulates exocrine pancreatic secretion to affect small and large intestinal motility, and inhibits pentagastrin-stimulated secretion of acid. In the gut, Xenin interacts with the neurotensin receptor. Membrane and vesicular trafficking in the early secretory pathway are mediated by non-Clathrin COP (coat protein) I-coated vesicles. COPI-coated vesicles mediate retrograde transport from the Golgi back to the ER and intra-Golgi transport. The cytosolic precursor of the COPI coat, the heptameric coatomer complex, is composed of two subcomplexes. The first consists of the COPB, COPG, COPD and COPZ subunits (also known as b-, g-, d- and z-COP, respectively), which are distantly homologous to AP Clathrin adaptor subunits. The second consists of the COPA, b'-COP and COPE subunits (also known as a-COP, COPP and e-COP, respectively).
Catalog Number:
(10282-378)
Supplier:
Bioss
Description:
The phosphorylation and dephosphorylation of proteins on serine and threonine residues is an essential means of regulating a broad range of cellular functions in eukaryotes, including cell division, homeostasis and apoptosis. A group of proteins that are intimately involved in this process are the serine/threonine (Ser/Thr) protein kinases. ANKK1 (ankyrin repeat and kinase domain containing 1), also known as PKK2 or SGK288, is a 765 amino acid protein that belongs to the Ser/Thr protein kinase family and contains 12 ANK repeats and one protein kinase domain. Highly expressed in brain tissue and present in lower amounts in placenta and spinal cord, ANKK1 functions to catalyze the ATP-dependent phosphorylation of target proteins and is thought to play a role in alcohol and nicotine dependence. The gene encoding ANKK1 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.
Catalog Number:
(10251-800)
Supplier:
Bioss
Description:
Microcephalin modulates brain size and has been proliferating under strong positive selection for several thousand years, although the nature of the positive selection is poorly understood. Human Microcephalin contains three BRCA1 C-terminal (BRCT) domains and shares 57% identity with its mouse ortholog, the most conserved regions being BRCT domains where there is 80% identity. Predominant expression of human Microcephalin is observed in fetal brain, liver and kidney tissues and is expressed during neurogenesis in mice. Microcephalin displays significantly higher rates of protein evolution in primates than in rodents; this trend is most noticeable for the subset of genes associated with nervous system development. Microcephalin has a very young, single nucleotide, polymorphism haplotype associated with modern humans; this gene is presumably still evolving in Homo sapiens. It functions in DNA damage response and regulation of cell cycle checkpoints.
Catalog Number:
(10280-980)
Supplier:
Bioss
Description:
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010].
Catalog Number:
(10286-764)
Supplier:
Bioss
Description:
BCL2 is an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants (alpha and beta) produced by alternate splicing, differ in their C-terminal ends. BCL2 suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. It regulates cell death by controlling the mitochondrial membrane permeability. It appears to function in a feedback loop system with caspases. BCL2 inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF1). It can form homodimers, and heterodimers with BAX, BAD, BAK and BclX(L). Heterodimerization with BAX requires intact BH1 and BH2 domains, and is necessary for anti-apoptotic activity. Also interacts with APAF1, RAF1, TP53BP2, BBC3, BCL2L1 and BNIPL
Catalog Number:
(10267-150)
Supplier:
Bioss
Description:
G protein-coupled receptors (GPRs or GPCRs), also known as seven transmembrane receptors, heptahelical receptors, or 7TM receptors, are members of the largest protein family and play a role in many different stimulus-response pathways. G-protein coupled receptors mediate extracellular signals into intracellular signals (G-protein activation). They respond to a great variety of signaling molecules, including hormones, neurotransmitters and other proteins and peptides. GPR proteins are integral seven-pass membrane proteins with some conserved amino acid regions. G-protein coupled receptor 56 (GPR56), also designated TM7XN1 protein, contains one GPS domain. GPR56 plays an important role in cell-cell interactions and is widely expressed, with highest levels detected in brain, heart and thyroid gland. Defects in the gene encoding for GPR56 can cause bilateral frontoparietal polymicrogyria (BFPP) which is characterized by disorganized cortical lamination.
Catalog Number:
(10262-710)
Supplier:
Bioss
Description:
The Ras p21 family of guanine nucleotide proteins has been widely studied in view of its apparent role in signal transduction pathways and high frequency of mutations in human malignancies. It is now clear, however, that the Ras proteins (H-, K- and N-Ras p21) are members of a much larger superfamily of related proteins. Six members of this family, Rap 1A, Rap 1B, Rap 2, R-Ras, Ral A and Ral B, exhibit approximately 50% amino acid homology to Ras. The six mammalian Rho proteins (Rho A, B, C, G, 7 and 8) are approximately 30% homologous to Ras and are expressed in a wide range of cell types. Both Ras p21 and Rho p21, as well as other members of the Ras superfamily, contain a carboxy-terminal CAAX sequence (C, cysteine; A, aliphatic amino acid; X, any amino acid) which in the case of Ras has been shown to be essential for correct localization and function.
Catalog Number:
(10303-034)
Supplier:
Bioss
Description:
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.
Catalog Number:
(10336-702)
Supplier:
Bioss
Description:
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. At least five transcript variants have been described for this gene. Additional variants have been described but their full-length nature has not been determined. The entire coding sequence is contained in the terminal exon and is present in all transcript variants. [provided by RefSeq].
Catalog Number:
(10252-066)
Supplier:
Bioss
Description:
Differentiation of myogenic cells is regulated by multiple positively and negatively acting factors. One well characterized family of helix-loop-helix (HLH) proteins known to play an important role in the regulation of muscle cell development includes Myo D, myogenin, Myf-5 and Myf-6 (also designated MRF-4 or herculin). Myo D transcription factors form heterodimers with products of a more widely expressed family of bHLH genes, the E family, which consists of at least three distinct genes: E2A, IF2 and HEB. Myo D-E heterodimers bind avidly to consensus (CANNTG) E box target sites that are functionally important elements in the upstream regulatory sequences of many muscle-specific terminal differentiation genes. Both homo- and hetero-oligomers of these proteins are able to distinguish very closely related E box proteins and are believed to play important roles in lineage specific gene expression.
Catalog Number:
(10279-016)
Supplier:
Bioss
Description:
Potential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF1 stimulation. Isoform A interacts with CDC2, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.
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