33348 Results for: "Provette+per+immunologia&pageNo=67"

Supplier: Bioss

Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).

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Hornerin has similar structural features to those of profilaggrin, an essential protein for keratinization of epidermal tissues. Hornerin may play a role in cornification.

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Zygin 2 is a 353 amino acid cytoplasmic protein that belongs to the zygin family. Zygin 2 is found as a difulfide-linked homodimer but may for heterodimers with FEZ1. the plasma membrane to the cytoplasm by activation of PKC zeta. PKC zeta also enhances zygin 1 interaction with UFD2 and polyubiquitination. Expressed mainly in brain, zygin 1 is a mammalian ortholog of Caenorhabditis elegans UNC-76 and is able to restore partial locomotion and axonal fasciculation to C. elegans UNC-76 mutants, which suggest a functional role in axonal outgrowth. As component of the network of molecules that regulate cellular morphology and axon guidance machinery, zygin 1 may also be involved in microtubule associated transport and transcriptional regulation. Mutations in the gene encoding zygin 1 may be linked to the pathogenesis of schizophrenia. Zygin 1 exists as two alternatively spliced isoforms that are designated isoform long and isoform short.

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Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation.Neuronal activity dramatically increases the concentration of cytosolic Ca2+, which then serves as a second messenger to direct diverse cellular responses. Calmodulin is a primary mediator of Ca2+ signals in the nervous system. Ric, a protein related to the Ras subfamily of small GTPases, has the ability to bind calmodulin. In addition, two Ras-like human proteins, Rin and Rit (Ric-related gene expressed in many tissues), which are 71% and 66% identical to RIC respectively, share related G2 domains with Ric. While most members of the Ras subfamily are plasma membrane-associated and generally require a C-terminal isoprenyl group to bind to the plasma membrane, Rit and Rin lack the recognition signal for C-terminal prenylation. Transiently expressed Rit and Rin are plasma membrane-localized because both proteins contain a C-terminal cluster of basic amino acids, which provides a mechanism for membrane association. Rin binds calmodulin through a C-terminal binding motif. Rit and Ric are widely expressed, whereas expression of Rin is restricted to the neuron system. In conclusion, Rit and Rin define a novel subfamily of Ras-related proteins

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SLC25A20 is one of several closely related mitochondrial membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. It mediates the transport of acylcarnitines into the mitochondrial matrix for their oxidation by the mitochondrial fatty acid oxidation pathway. Mutations in this gene are associated with carnitine acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants.

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RSK3(Ribosomal S6 kinase 3)is a member of a family of 90-kDa ribosomal protein S6 kinases, which includes Rsk1, Rsk2 and Rsk3. These are broadly expressed serine/threonine protein kinases that are activated in response to mitogenic stimuli, including extracellular signal-regulated protein kinases Erk1 and Erk2. Rsk3 is a distinct isoform of p90Rsk that translocates to the cell nucleus, phosphorylates potential nuclear targets and may have a unique upstream activator. Several sites, such as Ser380, Thr359, Ser363 and Thr573, are important for its activation. Active Rsks appear to play a major role in transcriptional regulation by translocating to the nucleus and phosphorylating c Fos and CREB.

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CD160, a 27 kDa glycoprotein, was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine rich, glycosylphosphatidylinositol anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule.

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Cell adhesion molecules influence cell growth, differentiation, embryogenesis, immune response and cancer metastasis by networking information from the extracellular matrix to the cell. Sidekick-1 (SDK1) is a 2,213 amino acid single-pass membrane protein that functions as a cell adhesion molecule by guiding axonal terminals to specific synapses in developing neurons. Existing as three alternatively spliced isoforms, Sidekick-1 is expressed in retinal neurons and contains thirteen fibronectin type-III domains and six Ig-like C2-type (immunoglobulin-like) domains. Sidekick-1 expression is upregulated in glomeruli of patients with HIV-associated nephropathy, where it leads to podocyte dysfunction. The gene encoding Sidekick-1 maps to human chromosome 7p22.2 and murine chromosome 5 G2.

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Protein tyrosine phosphatase that negatively regulates oligodendrocyte precursor proliferation in the embryonic spinal cord. Required for normal differentiation of the precursor cells into mature, fully myelinating oligodendrocytes. May play a role in protecting oligondendrocytes against apoptosis. May play a role in the establishment of contextual memory, probably via the dephosphorylation of proteins that are part of important signaling cascades (By similarity).

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C17orf53 is a 647 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.

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Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons.

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C6orf15.

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C17orf49 is a 172 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.

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TRIM10 is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells.

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Apolipoproteins are protein components of plasma lipoproteins. Apolipoprotein A-I (ApoA1) promotes cholesterol efflux from tissues to the liver for excretion. ApoA1 is the major protein component of high density lipoprotein (HDL) in the plasma. It can function as a cofactor for lecithin cholesterolacyltransferase, which is responsible for the formation of most plasma cholesteryl esters. AI-BP (Apolipoprotein A-I-binding protein), also known as YjeF N-terminal domain-containing protein 1, is a 288 amino acid secreted protein that binds ApoA1, ApoA2 and HDL. Individuals with impaired renal function show an increased rate of AI-BP excretion, indicating that it is normally reabsorbed within the kidney tubules. AI-BP belongs to the YjeF N-terminal domain protein family, which includes proteins that are frequently involved in oogenesis and spermatogenesis. There are two isoforms of AI-BP that are produced as a result of alternative splicing events.

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The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]

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SLC14A1 is one of two major mammalian urea transporters, which play a critical role in the urine-concentrating mechanism. Their abundance is regulated by vasopressin, glucocorticoids, and mineralocorticoids. These regulatory mechanisms may be important in disease states such as diabetes.

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ACSM3

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Acts as a transcriptional repressor. Represses the promoter activity of the CDC25C gene stimulated by NFYA.

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Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf33 gene product has been provisionally designated C8orf33 pending further characterisation.

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Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation.

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The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization.

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AER61

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SOHLH1 is a 328 amino acid protein that localizes to both the nucleus and the cytoplasm and contains one bHLH domain through which it may function as a transcription factor during oogenesis and spermatogenesis. The gene encoding SOHLH1 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and Familial dysautonomia, are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster.

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The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

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Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013].

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GLT8D2 (glycosyltransferase 8 domain-containing protein 2), also known as GALA4A, is a 349 amino acid single-pass type II membrane protein. A member of the glycosyltransferase 8 family, GLT8D2 is encoded by a gene that maps to human chromosome 12q23.3. Encoding over 1,100 genes within 132 million base pairs, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12, including hypochondrogenesis, achondrogenesis, Noonan syndrome, Kniest dysplasia and trisomy 12p. Chromosome 12 is also home to a homeobox gene cluster, which encodes crucial transcription factors for morphogenesis, as well as the natural killer complex gene cluster, which encodes C-type lectin proteins that mediate the NK cell response to MHC I interaction.

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Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes.

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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.

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The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins(stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul2008].