"Bioss"

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Caldesmon, Filamin 1, Nebulin and Villin are differentially expressed and regulated Actin binding proteins. Both muscular (CDh) and non-muscular (CDl) forms of Caldesmon have been identified and each has been shown to bind to Actin as well as to calmodulin and Myosin. CDh is expressed predominantly on thin filaments in smooth muscle, whereas CDl is widely expressed in non-muscle tissues and cells. Filamin 1, which is ubiquitously expressed and exists as a homodimer, functions to crosslink Actin to filaments. Nebulin is a large filamentous protein specific to muscle tissue that may function as a ruler for filament length. Several isoforms of Nebulin are produced by alternative exon usage. Villin is Ca2+-regulated and is the major structural component of the brush border of absorptive cells.

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Required for assembly and stability of the aminoacyl-tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor.

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Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyse the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis.

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This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009].

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POMT1 (Protein O mannosyl transferase 1) is a multipass membrane protein that is found in the endoplasmic reticulum. POMT1 catalyses the transfer of mannosyl residues to the hydroxyl groups of serine or threonine residues. Enzymatic activity is dependent on co expression of POMT1 with POMT2. Defects in the POMT1 gene are associated with Walker-Warburg syndrome (WWS), a congential muscular dystrophy that is associated with mental retardation and is usually lethal within the first few months of life. Other defects in the POMT1 gene result in limb girdle muscular dystrophy type 2K (LGMD2K), which is associated with mild mental retardation. Studies in Drosophila suggest that mutation of POMT1 alters the efficacy of synaptic transmission and a change in subunit composition of post synaptic glutamate receptors at the neuromuscular junction. Missense mutations in POMT1 have been associated with glioneuronal and glial brain tumours.

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Transport of G protein-coupled receptors (GPCRs) to the cell surface membrane is critical for receptor-ligand recognition. Mammalian GPCR odorant receptors (ORs), when heterologously expressed in cells, are poorly expressed on the cell surface. REEP1 (receptor expression-enhancing protein 1), is a 201 amino acid multi-pass mitochondrion membrane protein that belongs to the DP1 family. REEP1 interacts with odorant receptor proteins and may enhance the cell surface expression of odorant receptors. Mutations in the REEP1 gene are the third most common cause of hereditary spastic paraplegia (HSP) after spastin and atlastin gene mutations. Mutations in the REEP1 gene also cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. The REEP1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana and rice, and maps to human chromosome 2p11.2.

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Claudin 1-8 proteins are a family of transmembrane proteins associated with tight junctions. Tight junctions are specialized regions of cell to cell contact made up of network of strands that act as a molecular gasket for preventing the leakage of ions, water etc. between cells. They are abundant in luminal epithelial sheets where they maintain epithelial cell polarity. Different tissues exhibit different Claudin composition.

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Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria.

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The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].

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DNA polymerase mu shares a number of characteristics with DNA polymerase Beta as well as with terminal deoxynucleotideyltransferase. Pol mu purportedly plays a role in microhomology mediated joining and the repair of double-stranded breaks. However, unlike other DNA polymerases, which show substrate specificity for deoxynucleotides, DNA Pol mu incorporates both deoxynucleotides and ribonucleotides in a template- directed manner. This unusual capability implies a novel role for this polymerase in DNA repair.

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Perilipin is an intracellular neutral lipid droplet protein that is hormonally regulated. This protein is localized exclusively to the surface of lipid droplets. In response to lypotic stimuli, perilipin is phosphorylated by protein kinase A. Once activated, perilipin has inhibitory affects upon hormone-sensitive lipase (HSL), a protein that mediates the hydrolysis of triacylglycerol, the major form of stored energy in the body. Perilipin expression is limited to adipocytes and steroidogenic cells. There are currently two known isoforms, Perilipin A and B. Both of these proteins are encoded by a single-copy gene and are the result of differential splicing events.

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Tenomodulin is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body sise-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated.

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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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Plays a stimulatory role on natural killer (NK) cells cytotoxicity. Activation by cross-linking of the receptor induces Ca(2+) mobilization and interferon-gamma production.

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Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010].

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Neuronal migration of the central nervous system is a specialized form of cell motility that takes place in the laminar structure of the cortical regions of brain. Astrotactin is a neuronal cell surface protein expressed on postmitotic neuronal precursors in the cerebellum, hippocampus, cerebrum, and olfactory bulb. Astrotactin 2 is a paralog of Astrotactin. Astrotactin mediates neuron-astroglial interactions and is also implicated in synaptic development as well as many other neuronal activities. Astrotactin has three epidermal growth factor repeat domains and two fibronectin type III repeat domains. The human Astrotactin gene shows extensive homology to the mouse Astrotactin gene. Mutations in the Astrotactin gene are linked to neuronal migration defects in both species.