4-(1H-Tetrazol-5-yl)benzoic+acid
Catalog Number:
(10291-426)
Supplier:
Bioss
Description:
The Flavin containing monooxygenase family consists of five gene products, FMO1-5, that are major enzymatic oxidants involved in the metabolism of various therapeutics. Located in the liver, FMO3 is a hepatic microsomal enzyme that oxygenates soft nucleophiles such as secondary and tertiary amines. Through its N-oxygenase capabilities, FMO3 acts on a variety of xenobiotics to catalyze oxidative digestion. Defects in the FMO3 gene are the primary cause of trimethylaminuria (TMAuria), an inborn error of metabolism associated with a fishy body odor emitting from sweat, urine and breath. Genetic mutations in FMO3 lead to the N-oxidation of amino-trimethylamine derived from food products, thus producing the malodor associated with TMAuria.
Catalog Number:
(10292-176)
Supplier:
Bioss
Description:
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).
Catalog Number:
(10259-510)
Supplier:
Bioss
Description:
Photoreceptor-specific nuclear receptor, also known as NR2E3 or PNR, belongs to a large family of nuclear hormone receptor transcription factors. The proteins belonging to this family are characterized by discrete domains functioning in DNA and ligand binding. NR2E3 has a role in regulating the signaling pathway elemental to the photoreceptor cell function and in regulating pathways involved in embryonic development. NR2E3 is an eye specific nuclear protein found in the outer nuclear layer of the adult retina (where the nuclei of cone and rod photoreceptors are located). Defects in this gene encoding for the protein, which localizes to chromosome 15q22.32, cause enhanced S cone syndrome.
Catalog Number:
(10306-026)
Supplier:
Bioss
Description:
Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway. Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3'). Isoform SREBP-1A is much more active than isoform SREBP-1C in stimulating transcription from SRE-1-containing promoters. [SUBUNIT] Forms a tight complex with SCAP in the ER membrane. Efficient DNA binding of the soluble transcription factor fragment requires dimerization with another bHLH protein. Interacts with LMNA. [SUBCELLULAR LOCATION] Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein. Note=Moves from the endoplasmic reticulum to the Golgi in the absence of sterols. [SUBCELLULAR LOCATION] Processed sterol regulatory element-binding protein 1: Nucleus. Belongs to the SREBP family.
Catalog Number:
(10353-044)
Supplier:
Bioss
Description:
Disabled 1 (Dab1) is an 80 kDa protein that is encoded by the Disabled-1 gene locus which is mutated in scrambler and yotari mutant mice. Phenotypically, the mutation of this gene produces motor defects and ataxia, disruption of neuronal migration, and severe cerebellar hypoplasia. Dab1 is an intracellular adapter protein that functions in downstream signaling events initiated by the secreted protein reelin. Dab1 contains a phosphotyrosine binding (PTB) domain in the amino terminus. Tyrosine phosphorylation of Dab1 is increased by reelin binding to the Very Low Density Lipoprotein Receptor (VLDLR) and Apolipoprotein E Receptor 2 (ApoER2) through stimulation of Src family kinases. Src family kinase and c-Abl activities are themselves then stimulated by binding to tyrosine phosphorylated Dab1. Dab1 also mediates activation of Akt (PKB) by reelin resulting in inhibition of glycogen synthase kinase 3 beta (GSK-3 beta) and decreased phosphorylation of the microtubule-associated protein, Tau. Dab1 serine 491 is phosphorylated in a Cdk5-dependent manner and regulates, likely indirectly, Reelin-induced signaling during neural cortex development.
Catalog Number:
(10406-280)
Supplier:
Bioss
Description:
Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the production/expression of TNF-alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with generation of key proinflammatory mediators. Interaction with S100B after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Receptor for amyloid beta peptide. Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the extracellular to the intracellular space in cortical neurons. ABPP-initiated RAGE signaling, especially stimulation of p38 mitogen-activated protein kinase (MAPK), has the capacity to drive a transport system delivering ABPP as a complex with RAGE to the intraneuronal space. Can also bind oligonucleotides.
Catalog Number:
(10672-010)
Supplier:
Bioss
Description:
The tripartite motif (TRIM) family of proteins are characterized by a conserved TRIM domain that includes a coiled-coil region, a B-box type zinc finger, one RING finger and three zinc-binding domains. TRIM17 (tripartite motif-containing 17), also known as RBCC, terf or RNF16, is a 477 amino acid protein that contains one RING-type zinc finger, one SPRY domain and one B box-type zinc finger. Expressed nearly exclusively in testis, TRIM17 belongs to the TRIM family and, based on its functional domains, may play a role in transcriptional regulation events. The gene encoding TRIM17 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma
Catalog Number:
(10670-950)
Supplier:
Bioss
Description:
The Hox proteins play a role in patterns of embryonic development and cellular differentiation by regulating downstream target genes. In vivo, the HoxD9 protein interacts with the autoregulatory and cross-regulatory enhancers of the murine HoxB1 and human HoxD9 genes. Specifically, the HoxD9 protein interacts with the human control region (HCR) of the HoxD9 gene, thus inducing transcription of the HoxD9 promoter. HoxD9 may be a multifunctional transcriptional regulator, as it contains different activation domains. Activation of HoxD9 depends on the structure of the target regulatory element, and results in differential cofactor interaction. The HoxD9 protein is expressed in the early stages of mouse joint development, primarily in the articular cartilage. HoxD9 transcripts are also detected in the synovial tissue of arthritic mice, but not in that of normal mice, suggesting that HoxD9 may have a role in the pathology of arthritis. Furthermore, the HoxD9 protein is highly expressed in the synoviocytes of patients with rheumatoid arthritis (RA), but not in osteoarthritis patients. The human HoxD9 protein is also differentially expressed in the human cervical cancer cell line HeLa, but is not expressed in the normal cervix and may thus play a role in tumorigenesis.
Catalog Number:
(10435-232)
Supplier:
Bioss
Description:
Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.Involvement in disease: Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPDA) ; also known as Niemann-Pick disease classical infantile form. It is an early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B.
Catalog Number:
(10405-370)
Supplier:
Bioss
Description:
Rabphilin-3AL (rabphilin-3A-like), also known as RPH3AL or NOC2, is a cytoplasmic Rab GTPase effector. It contains one FYVE-type zinc finger and one Rab-binding (RBD) domain, but unlike its related protein, rabphilin-3A, rabphilin-3AL does not contain any C2 domains. Rabphilin-3AL is expressed in a variety of tissues, with highest levels found in kidney, skeletal muscle, pancreas, liver, ovary, stomach, heart and thyroid. It is believed to play a role regulating calcium-dependent secretory vesicle exocytosis in endocrine and exocrine cells. Via its RBD domain, rabphilin-3AL is capable of binding Rab 27a and, through this interaction, rabphilin-3AL is recruited to dense-core vesicles. With lower affinity, rabphilin-3AL can also bind Rab 3 and Rab 8 with its RBD domain. Through an interaction with Rab 3, rabphilin-3AL can inhibit G-protein signaling in endocrine pancreas and positively regulate insulin secretion. Rabphilin-3AL knockout mice display accumulation of secretory granules and irregular shape in exocrine cells.
Catalog Number:
(10350-508)
Supplier:
Bioss
Description:
Mitotic serine/threonine kinases that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2. Regulates KIF2A tubulin depolymerase activity. Required for normal axon formation. Plays a role in microtubule remodeling during neurite extension. Important for microtubule formation and/or stabilization. Also acts as a key regulatory component of the p53/TP53 pathway, and particularly the checkpoint-response pathways critical for oncogenic transformation of cells, by phosphorylating and stabilizing p53/TP53. Phosphorylates its own inhibitors, the protein phosphatase type 1 (PP1) isoforms, to inhibit their activity. Necessary for proper cilia disassembly prior to mitosis.
Catalog Number:
(10666-550)
Supplier:
Bioss
Description:
Hepatoma Derived Growth Factor (HDGF) is the original member of a family of polypeptides designated HDGF-related proteins (HRPs). HDGF was initially characterized as a secreted mitogen from the Huh-7 human hepatoma cell line. This nuclear targeted vascular smooth muscle cell mitogen (VSM) is a heparin-binding protein that is highly expressed in tumor cells where it stimulates proliferation. HDGF is also reported to be involved in organ development and lung remodeling after injury by promoting proliferation of lung epithelial cells. During development, HDGF expression is high in the nucleus and cytoplasm of smooth muscle and endothelial cells. The HRP (HDGF related proteins) family contains four proteins, HRP-1, HRP-2, HRP-3 and HRP-4. HRP-1 and HRP-4 are only expressed in testis while HRP-2 is widely expressed in different tissues. HRP-3 can solely be found in the nervous system. Specifically it is strongly expressed in bulbus, olfactorius, piriform cotrex and amygdala complex while HRP-2 in brain is located in the the thalamus, prefrontal and parietal cortex, neurohypophysis, and the cerebellum. In the central nervous system, HRP proteins are play a role in neuron proliferation and cell survival.
Catalog Number:
(10669-696)
Supplier:
Bioss
Description:
The members of the murine Cdx family (Cdx1, Cdx2, and Cdx4) are members of the caudal-type homeobox family of genes, which are homologues of the Drosophila ‘caudal’ gene required for anterior-posterior regional identity. The intestine-specific transcription factors Cdx1 and Cdx2 are candidate genes for directing intestinal development, differentiation, proliferation and maintenance of the intestinal phenotype. The relative expression of Cdx1 to Cdx2 protein may be important in the anterior to posterior patterning of the intestinal epithelium and in defining patterns of proliferation and differentiation along the crypt-villus axis. Expression of the Cdx1 homeobox gene in epithelial intestinal cells promotes cellular growth and differentiation. Cdx1 positively regulates its own expression. Cdx1 and Cdx2 are expressed in the small intestine and colon of fetus and adult. A decrease in human Cdx1 and/or Cdx2 expression is associated with colorectal tumorigenesis. Both Cdx1 and Cdx2 genes must be expressed to reduce tumorigenic potential, to increase sensitivity to apoptosis and to reduce cell migration, suggesting that the two genes control the normal phenotype by independent pathways. The human Cdx1 gene maps to chromosome 5q31-q33 and encodes a 265-amino acid protein.
Catalog Number:
(10468-542)
Supplier:
Bioss
Description:
Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the elongin B and C complex. Serveral other families of proteins also contain SOCS boxes but differ from the SOCS proteins in the type of domain they contained upstream of the SOCS box. Four members of the ankyrin repeat and SOCS box-containing (ASB) protein family are identified and termed as ASB-1, ASB-2, ASB-3 and ASB-4. ASB-1 is expressed in multiple organs, including the hematopoietic compartment. ASB-1 knock-out mice display a diminution of spermatogenesis with less complete filling of seminiferous tubules. Asb-2 is a novel retinoic-acid (RA)-induced gene in acute promyelocytic leukemia (APL) cells and its expression induces growth-inhibition and chromatin condensation recapitulating early events critical to RA-induced differentiaiton of APL cells. ASB-2 is directly induced by all-trans retinotic acid, by the binding of RARa to the RAR binding element/RXR binding element in the Asb-2 promoter.
Catalog Number:
(10386-514)
Supplier:
Bioss
Description:
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.
Catalog Number:
(10278-652)
Supplier:
Bioss
Description:
Dyrk is the homolog of the Drosophila mnb (minibrain) gene, which is required for neurogenesis (1–3). Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation (1). Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases (4). Dyrk family members, including Dyrk1A (originally Dyrk), Dyrk1B, Dryk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions (4). Dyrk1A is a candidate gene that may be involved in Downs syndrome, and it has been found to be somewhat overexpressed in Downs syndrome (1,5). Two isoforms of human fetal brain Dyrk2 exist: a deduced 528-amino acid protein and a protein containing 73 additional amino acids at the amino terminus (4). Dyrk3 is strongly expressed in testis, only after the onset of spermatogenesis, and very weakly expressed in spleen and adrenal gland (1). The genes which encode Dyrk2 and Dyrk3 map to human chromosomes 12 and 1q32, respectively (4).
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