51911 Results for: "Abeba"

Supplier: Bioss

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.

Supplier: Bioss

Adapter protein involved in asymmetrical cell division and cell polarization processes. Seems to play a central role in the formation of epithelial tight junctions. Targets the phosphatase PTEN to cell junctions. Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons.

Supplier: Bioss

The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome. [provided by RefSeq, Jul 2008].

Supplier: Bioss

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member has a perinuclear localization and is an inositol 1,3,4,5-tetrakisphosphate-binding protein; a compound suggested to function as a second messenger. [provided by RefSeq, Jul 2008].

Supplier: Bioss

This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013].

Supplier: Bioss

CLASP2 is a microtubule plus end tracking protein that promotes the stabilization of dynamic microtubules and is required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. CLASP2 may act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3 kinase signaling. CLASP2 also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle.

Supplier: Bioss

Adrenomedullin (ADM), a vasodilator produced by most contractile cells, is characterized by persistent hypotensive activity. ADM is involved in the regulation of fluid and electrolyte homeostasis and in the maintenance of cardiovascular functioning. In hypertensive patients, the level of ADM in plasma is up-regulated. Natriuresis is a common systemic manifestation of aneurysmal subarachnoid hemorrhage. ADM has strong natriuretic actions. ADM-induced natriuresis is caused by an increase in glomerular filtration rate and a decrease in distal tubular sodium reabsorption. ADM is present both in the periphery and brain, and can exert central effects such as decreasing food ingestion.

Supplier: Bioss

SUMF1 is a 374 amino acid alternatively spliced protein that localizes to the lumen of the endoplasmic reticulum and belongs to the sulfatase-modifying factor family. Expressed ubiquitously with highest expression in liver, kidney and pancreas, SUMF1 exists as either a monomer, a homodimer or a heterodimer (with SUMF2) and functions to oxidize sulfatase cysteine residues to an active FGIy residue, thereby playing an important role in sulfatase activity. Defects in the gene encoding SUMF1 are the cause of multiple sulfatase deficiency (MSD), a heterogeneous disorder characterized by metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Supplier: Bioss

CHRDL2 is a novel chordin like protein that can act as a BMP antagonist. Amember of the chordin family of proteins, it contains a signal peptide andthree CR (cysteine-rich repeat) domains. When expressed as a recombinantprotein it is secreted and binds to activin A, but not to BMP-2, -4, -6. Differential expression has been detected in developing chondrocytes, myoblasts, osteoblasts, and osteoarthritic joints. Complex alternative splicing of CHRDL2 potentially results in distinct isoforms that differ at their C termini, in the expression of signal peptide, and in the content of CR domains. CHRDL2 was originally characterised as a novel protein exclusively expressed in breast, lung, and colon tumors.

Supplier: Bioss

LIN-28 is a highly conserved, RNA-binding, cytoplasmic protein. It consists of a cold shock domain and retroviral-type (CCHC) zinc finger motifs that were first identified in Caenorhabditis elegans. LIN-28 controls the timing of events during embryonic development and is readily expressed in embryos, embryonic stem cells and embryonal carcinoma cells. The presence of LIN-28 persists in some adult tissues including cardiac and skeletal muscle. In differentiating myoblasts, LIN-28 increases protein synthesis efficiency and binds to the growth and differentiation factor IGF-II.

Supplier: Bioss

The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukaemias. The C21orf56 gene product has been provisionally designated C21orf56 pending further characterisation.

Supplier: Bioss

The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women.

Supplier: Bioss

Axotrophin is a stem cell gene that encodes a protein which is involved in T lymphocyte regulation (especially in regulating the proliferation) and leukemia inhibitory factor (LIF) release. LIF is a neuropoietic cytokine that is important for stem cell regulation and thymocyte stimulation. Both Axotrophin and LIF are linked to transplantation intolerance. Axotrophin is also involved in corpus callosum differentiation and may play a role in glial cell line-derived neurotrophic factor (GDNF)-dependent sensory neuron survival in the substantia gelatinosa of the adult spinal cord. Axotrophin is primarily expressed in the hippocampus, cortex, purkinje and granule cells of the cerebellum.

Supplier: Bioss

G-protein coupled opioid receptor that functions as receptor for the endogenous neuropeptide nociceptin. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling via G proteins mediates inhibition of adenylate cyclase activity and calcium channel activity. Arrestins modulate signaling via G proteins and mediate the activation of alternative signaling pathways that lead to the activation of MAP kinases. Plays a role in modulating nociception and the perception of pain. Plays a role in the regulation of locomotor activity by the neuropeptide nociceptin.

Supplier: Bioss

The immunocytochemical detection of bromodeoxyuridine (BrdU) incorporated into DNA is a powerful tool to study the cytokinetics of normal and neoplastic cells. In vitro or in vivo labeling of tumor cells with the thymidine analogue BrdU and the subsequent detection of incorporated BrdU with specific anti-BrdU monoclonal is an accurate and comprehensive method to quantitate the degree of DNA-synthesis.BrdU is incorporated into the newly synthezised DNA of S-phase cells may provide an estimate for the fraction of cells in S-phase. Also dynamic proliferative information such as the S-phase transit rate and the potential doubling time can be obtained, by means of bivariate BrdU/DNA flow cytometric analysis

Supplier: Bioss

This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein is found to possess 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Use of alternative polyA sites has been noted for this gene. [provided by RefSeq].

Supplier: Bioss

This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein is found to possess 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Use of alternative polyA sites has been noted for this gene. [provided by RefSeq].

Supplier: Bioss

This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013].

Supplier: Bioss

Na⁺/H⁺ exchangers (NHEs) catalyse the transport of Na⁺ in exchange for H⁺ across membranes in organisms and are required for numerous physiological processes. NHEDC2 (Na⁺/H⁺ exchanger-like domain-containing protein 2), also known as NHA2, is a 537 amino acid mitochondrial protein. NHEDC2 is involved in organelle volume homeostasis by catalyzing the exchange of protons for Na⁺ and Li⁺ across the inner mitochondrial membrane. Found in red blood cells, NHEDC2 is required for bone resorption activity and osteoclast differentiation. As a multi-pass membrane protein, NHEDC2 is expressed as two isoforms produced by alternative splicing events.

Supplier: Bioss

Electron carrier protein. The oxidised form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain. Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases.

Supplier: Bioss

FGL2 is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. It may play a role in physiologic functions at mucosal sites. It is constitutively expressed in cytotoxic T-cells. Lack of expression in other lymphoid- and nonlymphoid-derived cell lines suggested that expression of FGL2 may be restricted to lymphocytes. FGL2 is induced via a mechanism involving IFNG and components of the IFNG signaling pathway, including STAT1 and IRF1.

Supplier: Bioss

In contrast to growth factors which promote cell proliferation, FAS ligand (FAS-L) and the tumor necrosis factors (TNFs) rapidly induce apoptosis. Cellular response to FAS-L and TNF is mediated by structurally related receptors containing a conserved cytoplasmic region called the “death domain”. DAPL1 (Death-associated protein-like 1), also known as EEDA (Early epithelial differentiation-associated protein), is a 107 amino acid protein that is expressed in hair follicles and is thought to function in a similar manner to DAP-1, possibly participating in the early stages of epithelial differentiation and/or apoptosis.

Supplier: Bioss

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009].

Supplier: Bioss

This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localised in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21.

Supplier: Bioss

MCM3 is one of the highly conserved mini-chromosome maintenance proteins that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with, and thus is acetlyated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression.

Supplier: Bioss

Glycosyltransferases that mediate the regio- and stereoselective transfer of sugars, such as the fucosyltransferases, determine cell surface-carbohydrate profiles, which is an essential interface for biological recognition processes. Fucosyltransferases catalyze the covalent association of fucose to different positional linkages in sugar acceptor molecules. The carbohydrate moieties generated and covalently attached to cell surfaces are necessary to ensure a surface contour that satisfies physiological roles, which are reliant on adhesion molecules such as Selectins (1-3). Hematopoietic lineages rely on Fucosyltransferases to confer a surface carbohydrate phenotype, which mediates proper cell adhesion molecule recruitment and cell trafficking (4-6).

Supplier: Bioss

GATA1 is a Cys2/Cys2 zinc finger DNA binding protein that is expressed primarily in erythroid, megakaryocytic, mast cells and eosinophilic cells. It belongs to the GATA family of transcription factors. GATA1 is a transcriptional activator which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of other genes expressed in erythroid cells. The protein also plays an important role in erythroid development by regulating the switch from fetal hemoglobin production to adult hemoglobin.

Supplier: Bioss

TRB-1 is a 372 amino acid protein that contains one protein kinase domain and belongs to the Ser/Thr protein kinase superfamily. Expressed ubiquitously with highest expression in bone marrow, thyroid gland, skeletal muscle and pancreas, TRB-1 interacts with MAPK kinases and is thought to regulate the activation of MAP kinses, possibly controlling MAP kinase cascades. The gene encoding TRB-1 maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies.

Supplier: Bioss

The annexin family of calcium-binding proteins is composed of at least ten mammalian genes. It is characterized by a conserved core domain, which binds to phospholipids in a Ca2+-dependent manner, and a unique amino terminal region, which may confer binding specificity. The annexin family has been implicated as regulators of such diverse processes as ion-flux, endocytosis and exocytosis, and cellular adhesion. Two forms of Annexin XI, designated A and B, have been identified. Transfection of COS-7 cells with Annexin XI-A, but not Annexin XI-B, causes formation of Annexin XI-associated vesicles.

Supplier: Bioss

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member has a perinuclear localization and is an inositol 1,3,4,5-tetrakisphosphate-binding protein; a compound suggested to function as a second messenger. [provided by RefSeq, Jul 2008].