33342 Results for: "Provette+per+immunologia&pageNo=67"

Supplier: Bioss

BECN1L1 belongs to the beclin family and may play a role in autophagy and antiviral host defense.

Supplier: Bioss

Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.

Supplier: Bioss

Ig (immunoglobulin) superfamily members exhibit functional characteristics including immune responses, growth factor signaling and cell adhesion. IGSF10 (immunoglobulin superfamily, member 10), also known as Calvaria mechanical force protein 608 (CMF608), is a 2,623 amino acid secreted protein that contains an N-terminal signal peptide, six leucine-rich repeats (LRRs), and 12 immunoglobulin-like repeats. IGSF10 exists as multiple alternatively spliced isoforms, and is expressed in bone. Specifically, expression of IGSF10 is limited to mesenchymal osteochondroprogenitors with fibroblast-like morphology, where it is thought to be involved in the maintenance of the osteochondroprogenitor cells pool and its down-regulation precedes terminal differentiation. The gene encoding IGSF10 maps to chromosome 3, which comprises over 1,100 genes that include a chemokine receptor gene cluster as well as a variety of human cancer related loci.

Supplier: Bioss

The multiprotein exon junction complex (EJC) is deposited on mRNAs upstream of exon–exon junctions as a consequence of pre-mRNA splicing. In mammalian cells, this complex serves as a key modulator of spliced mRNA metabolism. MLN51 is a nucleocytoplasmic shuttling protein that is overexpressed in breast cancer. The function of MLN51 in mammals remains elusive. Its fly homolog, named barentsz, as well as the proteins mago nashi and tsunagi have been shown to be required for proper oskar mRNA localization to the posterior pole of the oocyte. Magoh and Y14, the human homologs of mago nashi and tsunagi, are core components of the exon junction complex (EJC). The EJC is assembled on spliced mRNAs and plays important roles in post-splicing events including mRNA export, nonsense-mediated mRNA decay, and translation. Human MLN51 is an RNA-binding protein present in ribonucleo-protein complexes.

Supplier: Bioss

Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).

Supplier: Bioss

Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK.

Supplier: Bioss

RPGRIP1L is a 1,315 amino acid protein that belongs to the RPGRIP1 family and is thought to function in programmed cell death, craniofacial development and formation of the left-right axis. Existing as two alternatively spliced isoforms that localize to the cytoplasm, cytoskeleton, centrosome and cilium basal body, RPGRIP1L interacts with nephrocystin-4 and is moderately expressed in brain, retina and kidney. Containing two C2 domains, RPGRIP1L is encoded by a gene that maps to human chromosome 16q12.2. Defects in the gene encoding RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7), COACH syndrome (COACHS) and Meckel syndrome type 5 (MKS5).

Supplier: Bioss

This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling.

Supplier: Bioss

Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting.

Supplier: Bioss

CBLL1, also known as HAKAI (meaning ‘destruction’ in Japanese), or RNF188 (RING finger protein 188), is a 491 amino acid protein that contains one C2H2-type zinc finger and one RING-type zinc finger. CBLL1 is believed to function as an E3 ubiquitin-protein ligase that accepts a ubiquitin residue from an E2 ubiquitin-conjugating enzyme and immediately transfers that residue to a protein that is targeted for degradation. More specifically, upon activation of c-Src, CBLL1 interacts with and ubiquitinates tyrosine-phosphorylated E-cadherin, thereby targeting the E-cadherin complex for endocytosis and disrupting epithelial cell-cell contacts. Via its role as an E-cadherin regulator, CBLL1 participates in cell adhesion and may also be involved in the regulation of epithelial-mesenchymal transitions.

Supplier: Bioss

HAP1 (huntingtin-associated protein 1) binds to huntingtin (1). Huntingtin is a protein that contains a polyglutamine region and when the number of glutamine repeats exceeds 35, the gene encodes a version of huntingtin that leads to Huntington’s disease (HD) (2,3). The ability of HAP1 to bind to huntingtin is enhanced by an expanded polyglutamine repeat region (1). HAP1 shows neuronal localization and moves with huntingtin in nerve fibers (4,5). HAP1 is primarily expressed in brain tissue, with greater expression in the olfactory bulb and brain stem (1). Mouse HAP1 is localized to membrane-bound organelles including large endosomes, tubulovesicular structures and budding vesicles in neurons (6). Duo, also designated huntingtin-associated protein interacting protein or HAPIP, binds Huntingtin-associated protein 1 (HAP1) and may have a role in vesicle trafficking and cytoskeletal function.

Supplier: Bioss

Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 C6orf203 gene product has been provisionally designated C6orf203 pending further characterisation.

Supplier: Bioss

The adenomatous polyposis syndromes, familial adenomatous polyposis (FAP) and Gardner’s syndrome (GS), are characterized by numerous adenomatous polyps throughout the entire colon. These polyps invariably progress to colon cancer in addition to other extracolonic manifestations. The cloning of the APC gene revealed a ubiquitously expressed protein, 2843 amino acids in length, which is frequently mutated in patients suffering from FAP and GS. APC has been found to be associated with structural components of intracellular junctions. b-catenin and g-catenin (also called plakoglobin) are involved in the regulation of cellular adhesion. APC and E cadherin compete for binding to specific internal regions of both b- and g-catenin. Interactions between cytoskeleton and the APC, E cadherin, b/g catenin complex are mediated by a-catenin.

Supplier: Bioss

AKT, also known as protein kinase B (PKB), is a 57 kDa serine/threonine protein kinase. There are three mammalian isoforms of Akt: AKT1 (PKB alpha), AKT2 (PKB beta) and AKT3 (PKB gamma) with AKT2 and AKT3 being approximately 82% identical with the AKT1 isoform. Each isoform has a pleckstrin homology (PH)domain, a kinase domain and a carboxy terminal regulatory domain. AKT was originally cloned from the retrovirus AKT8, and is a key regulator of many signal transduction pathways. Its tight control over cell proliferation and cell viability are manifold; overexpression or inappropriate activation of AKT has been seen in many types of cancer. AKT mediates many of the downstream events of phosphatidylinositol 3 kinase (a lipid kinase activated by growth factors, cytokines and insulin). PI3 kinase recruits AKT to the membrane, where it is activated by PDK1 phosphorylation. Once phosphorylated, AKT dissociates from the membrane and phosphorylates targets in the cytoplasm and the cell nucleus.

Supplier: Bioss

Tect3 is a 607 amino acid single-pass type I membrane protein that belongs to the tectonic family and exists as four alternatively spliced isoforms. Tect3 interacts with MKS1 and may be involved in apoptosis regulation. The gene that encodes Tect3 contains approximately 31,560 bases and maps to human chromosome 10q24.1. Spanning nearly 135 million base pairs and encoding nearly 1,200 genes, chromosome 10 makes up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, Cockayne syndrome, multiple endocrine neoplasia type 2 and porphyria. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10.

Supplier: Bioss

The CCR4-NOT complex is an evolutionarily conserved, multi-component complex known to be involved in transcription as well as mRNA degradation. Various subunits within the complex are involved in influencing nuclear hormone receptor activities. The CCR4-NOT complex is also involved in the regulation of Histone H3 lysine 4 methylation through a ubiquitin-dependent pathway that likely involves the proteasome. CNOT8 (CCR4-NOT transcription complex subunit 8), also known as CALIF or POP2, is a 292 amino acid protein that localizes to both the nucleus and the cytoplasm and functions as part of the CCR-NOT complex. Expressed ubiquitously, CNOT8 plays a role in transcriptional regulation for a diverse set of processes.

Supplier: Bioss

Cleaves the membrane-bound precursor of TNF-alpha at '76-Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP). Contributes to the normal cleavage of the cellular prion protein. Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity. Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis. Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form. Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B. May regulate the EFNA5-EPHA3 signaling.

Supplier: Bioss

Chromosome 3 is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. The FAM62C gene product has been provisionally designated FAM62C pending further characterization.

Supplier: Bioss

The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. [provided by RefSeq].

Supplier: Bioss

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces larger polymers. It also help to bind these immunoglobulins to secretory component.

Supplier: Bioss

This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010].

Supplier: Bioss

GHRH-R is a seven transmembrane domain protein that localizes to the somatotroph of the pituitary. GHRH-R plays an important role in growth and acts as a high-affinity receptor for GHRH. Binding of GHRH leads to the coupling of GHRH-R to G-protein which stimulates increased adenylyl cyclase activity and the accumulation of cAMP leading to the synthesis and release of growth hormone and somatotroph proliferation. In addition, this signalling pathway may have direct action in fetal/placental development, reproduction and immune function. GHRH and GHRH-R may also play a role in the regulation of non-rapid eye movement sleep (NREMS). The expression of GHRH-R is dependent on the presence of the POU domain factor Pit-1. Mutations in the gene encoding this protein can result in isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, and anterior pituitary hypoplasia (APH).

Supplier: Bioss

Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).

Supplier: Bioss

JIP-4 is a 1,321 amino acid protein encoded by the human gene SPAG9. It contains a large N-terminal extracellular domain, a short transmembrane helical domain, and a cytoplasmic domain. There are 6 N-glycosylation sites, several phosphorylation sites for cAMP/cGMP-dependent protein kinase, protein kinase C, and casein kinase II, and 10 putative myristoylation sites. There is also a leucine zipper motif, with 6 leucine repeats, that may aid in dimerization since there is no upstream basic domain characteristic of DNA binding proteins. The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP-4 is a cytoplasmic, perinuclear protein that has eight known isoforms whose expression varies by tissue and disease state.

Supplier: Bioss

The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport and maintain cellular volume. The genes encoding human CLC-1 through CLC-7 map to chromosomes 7q32, 3q28, 4q32, Xp22.3, Xp11.23-p11.22, 1p36 and 16p13, respectively. CLC1 is highly expressed in skeletal muscle. Mutations in the gene encoding CLC1 lead to myotonia, an inheritable disorder characterized by muscle stiffness and renal salt wasting. CLC2 is highly expressed in the epithelia of several organs including lung, which suggests CLC2 may be a possible therapeutic target for cystic fibrosis. CLC3 expression is particularly abundant in neuronal tissue, while CLC4 expression is evident in skeletal and cardiac muscle as well as brain. Mutations in the gene encoding CLC5 lead to Dent’s disease, a renal disorder characterized by proteinuria and hypercalciuria. CLC6 and CLC7 are broadly expressed in several tissues including testis, kidney, brain and muscle.

Supplier: Bioss

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 C6orf1 gene product has been provisionally designated C6orf1 pending further characterization.

Supplier: Bioss

Tissue specificity: Mainly expressed in adult heart.

Supplier: Bioss

Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. ANKZF1 (ankyrin repeat and zinc finger domain containing 1), also known as ZNF744, is 726 amino acids in length and lacks a KRAB domain but contains one C2H2-type zinc finger and two ANK repeats. The gene encoding ANKZF1 localizes to chromosome 2.