227868 Résultats pour : "Bead Anvil"

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IRGM Antibody: Autophagy, the process of bulk degradation of cellular proteins through an autophagosomic-lysosomal pathway is important for normal growth control and may be defective in tumor cells. It is involved in the preservation of cellular nutrients under starvation conditions as well as the normal turnover of cytosolic components. Two of the strongest hits implicate genes IRGM and ATG16L1, which encode proteins thought to be critical to the autophagy pathway and being significantly associated with Crohn's disease. IRGM induces autophagy and generates large autolysosomal organelles as a mechanism for the elimination of intracellular Mycobacterium tuberculosis. In mouse, IRGM belongs to a family of gamma-interferon-induced GTP-binding proteins of approximately 48 kDa that also includes IRGM2 and IRGM3; this antibody may also recognize these proteins.

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The exact function of C21orf91 remains unknown.

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DLG7 is a potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. It is a mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. DLG7 is the key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells.

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PAICS is a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene.

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MCM8 is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the 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 contains the central domain that is conserved among the MCM proteins. This protein has been shown to co-immunoprecipitate with MCM4, 6 and 7, which suggests that it may interact with other MCM proteins and play a role in DNA replication. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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SNAPC2 is a component of the snRNA activating protein complex (SNAPc). SNAPC2 is exceptionally proline-rich, interacts strongly with TBP, and, other SNAPC components, is required for both RNA polymerase II and III transcription of snRNA genes.

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CACNB2 is a subunit of voltage-dependent calcium (Ca2+) channels, expressed in the CNS. It appears to serve an obligatory function.

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GFR alpha 3 Antibody: Members of the glial cell line-derived neurotrophic factor (GDNF) family, including GDNF and neurturin (NTN) play essential roles in the control of vertebrate neuron survival and differentiation. A new member of the GDNF family was recently identified and designated persephin. Physiological responses to these neurotrophic factors require two receptor subunits, the novel glycosylphosphadidylinositol linked protein GFR alpha and Ret receptor tyrosine kinase GFRbeta. Following the findings of GFR alpha -1 and -2, a novel receptor in GFR alpha family was identified very recently from human and mouse and designated GFR alpha -3. GFR alpha -3 binds persephin, thus, persephin, GFR alpha -3, and Ret PTK form a complex to transduce persephin signal and to mediate persephin function.

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The specific function of DDX59 is not yet known.

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The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. AKAP1 is a member of the AKAP family. It binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment.

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RAD54B belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer.The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer.

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ZNF251 may be involved in transcriptional regulation.

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Anti-Anthrax Mouse Monoclonal Antibody

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The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1.The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1.

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Organelles of the secretory and endocytic pathways are distinguished by their luminal acidity, which is generated by the activity of an electrogenic vacuolar-type hydrogen ATPase. Progressive acidification of vesicles in the endocytic pathway is essential for the redistribution and degradation of internalized membrane proteins, such as ligand receptor complexes and fluid-phase solutes. It may play an important role in maintaining cation homeostasis and function of the trans-Golgi network.Organelles of the secretory and endocytic pathways are distinguished by their luminal acidity, which is generated by the activity of an electrogenic vacuolar-type hydrogen ATPase. Progressive acidification of vesicles in the endocytic pathway is essential for the redistribution and degradation of internalized membrane proteins, such as ligand receptor complexes and fluid-phase solutes. This gene is expressed predominantly in the trans-Golgi network, and mediates the influx of sodium or potassium in exchange for hydrogen. It may thus play an important role in maintaining cation homeostasis and function of the trans-Golgi network. This gene is part of a gene cluster on chromosome Xp11.23.Organelles of the secretory and endocytic pathways are distinguished by their luminal acidity, which is generated by the activity of an electrogenic vacuolar-type hydrogen ATPase. Progressive acidification of vesicles in the endocytic pathway is essential for the redistribution and degradation of internalized membrane proteins, such as ligand receptor complexes and fluid-phase solutes. This gene is expressed predominantly in the trans-Golgi network, and mediates the influx of sodium or potassium in exchange for hydrogen. It may thus play an important role in maintaining cation homeostasis and function of the trans-Golgi network. This gene is part of a gene cluster on chromosome Xp11.23.

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SLC25A28 is a mitochondrial iron transporter that mediates iron uptake. It is probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe (2+), is then probably delivered to ferrochelatase to catalyze Fe (2+) incorporation into protoprophyrin IX to make heme.

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Anti-CALCRL Rabbit Polyclonal Antibody

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N-alpha-acetylation is one of the most common protein modifications that occurs during protein synthesis and involves the transfer of an acetyl group from acetyl-coenzyme A to the protein alpha-amino group. ARD1A, together with NATH (NARG1; MIM 608000), is part of a major N-alpha-acetyltransferase complex responsible for alpha-acetylation of proteins and peptides.N-alpha-acetylation is one of the most common protein modifications that occurs during protein synthesis and involves the transfer of an acetyl group from acetyl-coenzyme A to the protein alpha-amino group. ARD1A, together with NATH (NARG1; MIM 608000), is part of a major N-alpha-acetyltransferase complex responsible for alpha-acetylation of proteins and peptides (Sanchez-Puig and Fersht, 2006 [PubMed 16823041]).

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CCDC55 Antibody: CCDC55, also known as Nuclear speckle-related protein 70 (NSrp70), was initially identified by the NIH Mammalian Gene Collection. Nuclear speckles are known to be the storage sites of mRNA splicing regulators. CCDC55 has been suggested to modulate alternative pre-mRNA splicing in vivo. It co-localizes and physically interacts with the SR proteins SC35 and ASF/SF2, essential splicing factors which are required for constitutive splicing and can regulate alternative mRNA splicing. Loss of CCDC55 in mice leads to early embryonic lethality highlights the importance of the functional role of CCDC55.

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TGM7 Antibody: Transglutaminases (TGM) are a family of structurally and functionally related Ca2+-dependent enzymes (TGases) that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. TGases influence numerous biological processes, including blood coagulation, cell differentiation, fertilization and apoptosis. TGM7 belongs to the transglutaminase superfamily and is also thought to catalyze the cross-linking of proteins, often resulting in stabilization of protein assemblies. Little is known of the role of TGM7, but defects in the highly related protein TGM5 are associated with acral peeling skin syndrome.

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RIOK3 was identified by the similarity to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of RIOK3 has not yet been determined.This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined.

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JPH3 Antibody: Junctional complexes between the plasma membrane (PM) and endoplasmic/sarcoplasmic reticulum (ER/SR) are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. Junctophilins (JPs) are important components of the junctional complexes. JPs are composed of a carboxy-terminal hydrophobic segment spanning the ER/SR membrane and a remaining cytoplasmic domain that shows specific affinity for the PM. Four JPs have been identified as tissue-specific subtypes derived from different genes: JPH1 is expressed in skeletal muscle, JPH2 is detected throughout all muscle cell types, and JPH3 and JPH4 are predominantly expressed in the brain. In the CNS, both JPH3 and JPH4 are expressed throughout neural sites and contribute to the subsurface cistern formation in neurons. Mice lacking both JPH3 and JPH4 subtypes exhibit serious symptoms such as impaired learning and memory and are accompanied by abnormal nervous functions. A repeat expansion in JPH3 is associated with Huntington disease-like 2. At least two isoforms of JPH3 are known to exist.

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FXYD7 Antibody: FXYD7 is a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing seven invariant and six highly conserved amino acids. The FXYD proteins are tissue-specific regulators of Na, K-ATPase, with FXYD7 initially identified as a brain-specific member. FXYD7 interacts with Na, K-ATPase through its transmembrane domain and is thought to influence the affinity of Na, K-ATPase for external K+ and Na+ ions. Other members of the FXDY family have similar functions: FXYD2 regulates the properties of Na, K-ATPase, while FXYD1 (phospholemman), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems.

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RDH16 is an oxidoreductase with a preference for NAD. It oxidizes all-trans-retinol and 13-cis-retinol to the corresponding aldehydes. RDH16 has higher activity towards CRBP-bound retinol than with free retinol. It also oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. RDH16 can also catalyze the reverse reaction.

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HIG2 Antibody: HIG1 and HIG2 (Hypoxia-inducible gene 1 and 2, respectively) are known to be induced by hypoxic conditions. HIG2 is induced by hypoxia and by glucose deprivation in cultured cells. In addition, tumor xenografts derived from human cervical cancer cells display increased expression of HIG1 and HIG2 when they are deprived of oxygen. Unlike HIG2, which is ubiquitously expressed and might be an activator and target of the canonical Wnt pathway, the function and the mechanisms underlying its regulation of HIG1 still remained unknown. The putative link between hypoxia and an oncogenic signaling pathway might play an important role in tumorigenesis.

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Stk39 Antibody: The serine/threonine kinase Stk39 belongs to the STE20 family, a group of kinases that are known to interact with inflammation-related kinases (such as p38, JNK, NKCC1, PKC-theta, WNK and MLCK), and with transcription factor AP-1. The STE 20 family is involved in diverse biological phenomena, including cell differentiation, cell transformation/ proliferation, cytoskeleton rearrangement, and the regulation of ion transporters. STK39 contains an N-terminal series of proline and alanine repeats (PAPA box), followed by a serine/threonine kinase catalytic domain and is abundantly expressed in the brain. STK39 is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled co-transporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. Recent studies show that STK39 tend to be a novel candidate gene for autism and hypertension.

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Spred1 Antibody: The Ras-MAP kinase pathway is essential for the differentiation of neuronal cells and myocytes; it is inhibited by Spred1, a member of the Sprouty family of proteins. Spred1 acts by suppressing the phosphorylation and activation of Raf. The Spred proteins have also been implicated in the negative feedback regulation of FGF signaling in embryogenesis and angiogenesis. Further studies have shown that expression levels of Spred1 and Spred2 proteins are inversely correlated with the incidence of tumor invasion and metastasis in human hepatocellular carcinoma (HHC), suggesting that these proteins could be useful as prognostic factors and therapeutic targets in HCC. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS).

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Rkhd2 Antibody: Rkhd2, also known as MEX3C is a member of a novel family of four homologous human MEX3 proteins each containing two heterogeneous nuclear ribonucleoprotein K homology (KH) domains and one carboxy-terminal RING finger module. MEX3 proteins, including Rkhd2, are phosphoproteins that bind RNA through their KH domains and shuttle between the nucleus and the cytoplasm via the CRM1 export pathway. These proteins are a novel family of evolutionarily conserved RNA-binding proteins, differentially recruited to P bodies and potentially involved in post-transcriptional regulatory mechanisms. It has been suggested that genetic variations in Rkhd2 may be associated with susceptibility to essential hypertension type 8. Rkhd3 and Rkhd4, but not Rkhd2, co-localize with both the hDcp1a decapping factor and Argonaute (Ago) proteins in processing bodies (P bodies), recently characterized as centers of mRNA turnover.

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Spred2 Antibody: Spred2 is a member of the Sprouty family, a group of proteins that act as negative regulators during development. Like Spred1, Spred2 acts by suppressing the phosphorylation and activation of Raf. The Spred proteins have also been implicated in the negative feedback regulation of FGF signaling in embryogenesis and angiogenesis. Further studies have shown that expression levels of Spred1 and Spred2 proteins are inversely correlated with the incidence of tumor invasion and metastasis in human hepatocellular carcinoma (HHC), suggesting that these proteins could be useful as prognostic factors and therapeutic targets in HCC. At least two isoforms of Spred2 are known to exist.

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This protein is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression.The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.