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Catalog Number:
(10051-746)
Supplier:
Tonbo Biosciences
Description:
The J43.1 antibody is specific for mouse CD279, also known as programmed death-1 (PD-1), a 55 kDa glycoprotein which can co-regulate T cell antigen receptor signaling and therefore modulate T cell activation. PD-1 exists in a monomeric form that is expressed by CD4- CD8- thymocytes, where it participates in the processes of clonal selection, elimination of autoreactive lymphocytes, and development of tolerance. PD-1 expression is also inducible upon activation of mature T cells, where it has been proposed to interact with the co-stimulatory receptor CD80 to limit T cell activation. Two ligands for PD-1, known as PD-L1 (B7-H1) and PD-L2 (B7-DC) are differentially expressed on T and B cells, monocytes, macrophages, NK cells or dendritic cells. PD-1 is a member of a family of receptors including CD28 and CTLA-4 (CD152), which interact with “B7” ligands to provide a balance of co-stimulatory /co-inhibitory signaling important in T cell activation, tolerance, and autoimmunity.
Catalog Number:
(76120-984)
Supplier:
Bioss
Description:
Platelet receptor GI24, also known as SISP1 or PP2135, is a 311 amino acid single-pass type I membrane protein that contains one Ig-like (immunoglobulin-like) domain. GI24 is thought to contribute to tumor-invasive growth in the collagen matrix and is encoded by a gene that maps to human chromosome 10q22.1. Chromosome 10 contains over 800 genes, 135 million nucleotides and comprises nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious.
Catalog Number:
(76110-880)
Supplier:
Bioss
Description:
Comprising nearly 4% of human DNA, chromosome 13 contains around 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is quite deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. The C13orf28 gene product has been provisionally designated C13orf28 pending further characterization.
Catalog Number:
(76109-406)
Supplier:
Bioss
Description:
The gene encoding the Mixed-Lineage Leukemia (MLL) proteins is located on chromosome 11q23. Chromosomal translocations involving band 11q23 result in rogue activator proteins that are associated with approximately 10% of patients with acute lymphoblastic leukemia (ALL) and 5% of patients with acute myeloid leukemia (AML). Most patients affected are less than 1 year of age. MLLT11, also known as mixed-lineage leukemia translocated to 11 or AF1q, is a 90 amino acid MLL fusion partner. Based on the expression patterns of MLLT11, it is thought that MLLT11 plays a role in leukemogenesis and, specifically, the progression of acute monocytic leukemia (AML). Also, expressed in embryonic brain cortex, MLLT11 is upregulated during neuronal differentiation and is thought to play a role in the development of the central nervous system. Finally, MLLT11 has been shown to be differentially expressed in highly metastatic cells, in comparison with non-metastatic parent cells. Such findings suggest a role of MLLT11 in tumorigenesis.
Catalog Number:
(76120-542)
Supplier:
Bioss
Description:
Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf4 gene product has been provisionally designated C12orf4 pending further characterization.
Catalog Number:
(10350-170)
Supplier:
Bioss
Description:
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
Catalog Number:
(10352-100)
Supplier:
Bioss
Description:
Brutons tyrosine kinase (BTK) is a member of the BTK/Tec family of cytoplasmic tyrosine kinases. Like other BTK family members, it contains a pleckstrin homology (PH) domain, Src homology SH3 and SH2 domains. BTK plays an important role in B cell development. Activation of B cells by various ligands is accompanied by BTK membrane translocation mediated by its PH domain binding to phosphatidylinositol-3,4,5-trisphosphate. The membrane located BTK is active and associated with transient phosphorylation of two tyrosine residues, Tyr551 and Tyr223. Tyr551 in the activation loop is transphosphorylated by the Src family tyrosine kinase, leading to autophosphorylation at Tyr223 within the SH3 domain, which is necessary for full activation. The activation of BTK is negatively regulated by PKC beta through phosphorylation of BTK at Ser180, which results in reduced membrane recruitment, transphosphorylation and subsequent activation. The PKC/BTK inhibitory signal is likely to be a key determinant of the B cell receptor signaling threshold to maintain optimal BTK activity.
Catalog Number:
(10480-412)
Supplier:
Bioss
Description:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Catalog Number:
(76108-420)
Supplier:
Bioss
Description:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Catalog Number:
(76084-186)
Supplier:
Bioss
Description:
Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR). In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity). In concert with SIK1, regulates the light-induced entrainment of the circadian clock. In response to light stimulus, coactivates the CREB-mediated transcription of PER1 which plays an important role in the photic entrainment of the circadian clock.
Catalog Number:
(76116-916)
Supplier:
Bioss
Description:
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. Promotes ubiquitination of RAPGEF2. According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD. Involved in the budding of many viruses. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2. Involved in the ubiquitination of ebola virus VP40 protein and this ubiquitination plays a role in facilitating viral budding.
Catalog Number:
(75794-380)
Supplier:
Prosci
Description:
Interleukin-21 (IL-21) is a key factor in the transition between innate and adaptive immune responses secreted by activated T cells. The IL-21 receptor (IL-21R) is expressed in lymphoid tissue, in particular by NK, B, T and dendritic cells, macrophages and endothelial cells. Recent evidence suggests that IL-21 plays a supportive role in the proliferation of T and B cells and influences the cytolytic activity of natural killer cells. IL-21 has been shown to up-regulate genes associated with innate immunity and to inhibit the differentiation of naive T helper cells. IL-21 specifically inhibits IFN-gamma production from developing TH1 cells and is preferentially expressed by TH2 cells. Furthermore IL-21 has been identified as a growth and survival factor for human myeloma cells. IL-21/IL-21R interactions have a unique role in sequentially activating both innate and adaptive immune responses against poorly immunogenic tumors, leading to tumor rejection that is perforin dependent but IFN-gamma independent.
Catalog Number:
(10353-038)
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:
(10749-710)
Supplier:
Prosci
Description:
NGFR Antibody: The tumor necrosis factor (TNF) and TNF receptor (TNFR) gene superfamilies regulate numerous biological functions including cell proliferation, differentiation, and survival through regulating the activation of the transcription factor NF-kappa B and various mitogen-activated protein kinases. Nerve growth factor receptor (NGFR) was one of the earliest characterized members of this family. Also known as the low-affinity receptor p75NTR, this receptor is involved in several diverse functions such as apoptosis, neurite outgrowth during development, and myelination. Its ligands include NGF, brain-derived neurotrophic factor (BDNF), NT3, and NT4. NGFR can also associate with other NGF receptors such as Trk through the cytosolic and transmembrane domains and thus can function as a co-receptor that refines Trk affinity and specificity for neurotrophins. Finally, upon binding of various neurotrophins, NGFR associates with tumor necrosis factor receptor-6 (TRAF6), suggesting that it can potentially function as a signal transducer for NGF signals through NGFR.
Catalog Number:
(10669-262)
Supplier:
Bioss
Description:
The serine proteinase inhibitors (serpins) compose a superfamily of proteins with a diverse set of functions, including the control of blood coagulation, complement activation, programmed cell death and development. Serpins are secreted glycoproteins that contain a stretch of peptide that mimics a true substrate for a corresponding serine protease. SerpinB11 (serpin peptidase inhibitor, clade B (ovalbumin), member 11), also known as EPIPIN or SERPIN11, is a 392 amino acid cytoplasmic protein that belongs to the Ov-serpin subfamily and serpin family. Like other members of the serpin family, SerpinB11 has been identified as a noninhibitory intracellular protein. The gene encoding SerpinB11 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
Catalog Number:
(76109-202)
Supplier:
Bioss
Description:
Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. The gene encoding human ELL, which maps to chromosome 19p13.1, is one of several genes that undergo translocation with the MLL gene on chromosome 11q23 in acute myeloid leukemia. MLL (myeloid/lymphoid leukemia, also designated ALL-1 and HRX) regulates embryonal and hematopoietic development.
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