2741 Results for: "TAS-301&amp"

Supplier: Bioss

GIMAP3p is a murine mitochondrial membrane protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The IAN/GIMAP family consists of GTP-binding proteins that share a unique primary structure and whose expression is finely regulated by T-cell receptor signals. Recent studies have shown that IAN/GIMAP family proteins crucially regulate the survival of T cells during development, selection and homeostasis, and are possibly linked to the onset of T-lymphopenia, leukemia and autoimmunity. IAN/GIMAP family proteins might also take part in mitochondrial regulation of lymphocyte apoptosis by interacting with Bcl-2 family proteins. The human GIMAP (GTPase of the immunity-associated protein) gene family includes seven functional members residing on (human) chromosome 7q36.1 and one pseudogene (hGIMAP3).

Supplier: Bioss

Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts. Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner. At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development. At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells.

Supplier: Bioss

FNTA, also known as CAAX farnesyltransferase (FTase), attaches a farnesyl group from farnesyl pyrophosphate to cysteine residues at the fourth position from the C terminus of proteins that end in the so-called CAAX box, where C is cysteine, A is usually but not always an aliphatic amino acid, and X is typically methionine or serine. This type of posttranslational modification provides a mechanism for membrane localization of proteins that lack a transmembrane domain. This enzyme has the remarkable property of farnesylating peptides as short as four residues in length that conform to the CAAX consensus sequence. FNTA is also a specific cytoplasmic interactor of the transforming growth factor-beta and activin type I receptors. It is likely to be a key component of the signaling pathway which involves p21ras, an important substrate for farnesyltransferase.

Supplier: Bioss

The MAGUK (membrane-associated guanylate kinase homologs) family of proteins contain multiple protein-binding domains and are involved in cell junction organization, tumor suppression, and signaling. The MAGUK family is divided into four subfamilies: DLG-like, ZO1-like, p55-like and LIN2-like. MPP7 (MAGUK p55 subfamily member 7), also known as palmitoylated membrane protein 7, is a 576 amino acid protein that belongs to the MAGUK family and assists in the assembly of protein complexes. A peripheral membrane protein that exists as a heterodimer, MPP7 enhances tight junction formation and epithelial cell polarity. MPP7 contains one SH3 domain, a guanylate kinase-like domain, two L27 domains and a single PDZ (DHR) domain. The gene encoding MPP7 maps to human chromosome 10p11.23

Supplier: Bioss

Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May be involved in the regulation of PRC2 and PRC3 complex-dependent gene silencing.Tissue specificity: Widely expressed; the highest levels are in the kidney, skeletal muscle, liver, heart and spleen; also detected in pancreas, lung, placenta, brain, leukocytes, colon, small intestine, ovary, testis, prostate and thymus.

Supplier: Bioss

C9orf140 (chromosome 9 open reading frame 140), also known as TS/MDEP (tumor specificity and mitosis phase-dependent expression protein) or p42.3, is a 394 amino acid nuclear and cytoplasmic protein encoded by a gene that maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

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. ZSWIM3 (Zinc finger SWIM domain-containing protein 3) is a 696 amino acid protein that contains one SWIM-type zinc finger. SWIM domains are found in a variety of eukaryotic and prokaryotic proteins and are thought to be critical for certain ubiquitination reactions. The gene encoding ZSWIM3 maps to human chromosome 20, which contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome.

Supplier: Bioss

The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unusual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. The CXorf21 gene product has been provisionally designated CXorf21 pending further characterization.

Supplier: Bioss

Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in synoviocytes. Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8.

Supplier: Bioss

GIMAP3p is a murine mitochondrial membrane protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The IAN/GIMAP family consists of GTP-binding proteins that share a unique primary structure and whose expression is finely regulated by T-cell receptor signals. Recent studies have shown that IAN/GIMAP family proteins crucially regulate the survival of T cells during development, selection and homeostasis, and are possibly linked to the onset of T-lymphopenia, leukemia and autoimmunity. IAN/GIMAP family proteins might also take part in mitochondrial regulation of lymphocyte apoptosis by interacting with Bcl-2 family proteins. The human GIMAP (GTPase of the immunity-associated protein) gene family includes seven functional members residing on (human) chromosome 7q36.1 and one pseudogene (hGIMAP3).

Supplier: Bioss

Glycolysis is an evolutionarily conserved series of ten chemical reactions that utilizes eleven enzymes to concomitantly generate pyruvate and ATP from glucose. fructose kinase-2/fructose 2,6-bisphosphatase (PFK-2) stimulates the synthesis and degradation of fructose 2,6-bisphosphate. Glycogen phosphorylase (also known as GP) is an allosteric enzyme important in carbohydrate metabolism. Its activity is regulated through either noncovalent binding of metabolites or by covalent modification. Glycogen phosphorylase catalyzes the phosphorylation of glycogen to Glc-1-P. There are three genes which encode the brain, liver and muscle forms of glycogen phosphorylase, PYGB, PYGL and PYGM. Because of its fundamental role in the metabolism of glycogen, glycogen phosphorylase has been a target for the design of inhibitory compounds, which could be valuable in the therapeutic treatment of type 2 diabetes mellitus.

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. ZSWIM3 (Zinc finger SWIM domain-containing protein 3) is a 696 amino acid protein that contains one SWIM-type zinc finger. SWIM domains are found in a variety of eukaryotic and prokaryotic proteins and are thought to be critical for certain ubiquitination reactions. The gene encoding ZSWIM3 maps to human chromosome 20, which contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome.

Supplier: Bioss

The MAGUK (membrane-associated guanylate kinase homologs) family of proteins contain multiple protein-binding domains and are involved in cell junction organization, tumor suppression, and signaling. The MAGUK family is divided into four subfamilies: DLG-like, ZO1-like, p55-like and LIN2-like. MPP7 (MAGUK p55 subfamily member 7), also known as palmitoylated membrane protein 7, is a 576 amino acid protein that belongs to the MAGUK family and assists in the assembly of protein complexes. A peripheral membrane protein that exists as a heterodimer, MPP7 enhances tight junction formation and epithelial cell polarity. MPP7 contains one SH3 domain, a guanylate kinase-like domain, two L27 domains and a single PDZ (DHR) domain. The gene encoding MPP7 maps to human chromosome 10p11.23

Supplier: Bioss

Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts. Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner. At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development. At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells.

Supplier: Bioss

Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis.

Supplier: Bioss

Members of the leucine-rich repeat family includes LRCH1, LRCH2, LRCH3 and LRCH4. All family members contain one calponin-homology domain and nine leucine-rich repeats. The best characterized leucine-rich repeat family member is LRCH4, which is suggested to be involved in ligand binding in the brain, with expression observed primarily in the hippocampus. As a cell adhesion molecule and signal receptor, LRCH4 may play an important role in maintenance of hippocampus-dependent memories, with defects in the gene possibly contributing to a loss of long-term memory. The gene encoding LRCH3 maps to human chromosome 3, which spans 200 million base pairs and encodes between 1,100 and 1,500 genes. There are three isoforms of LRCH3 that are produced as a result of alternative splicing events.

Supplier: Bioss

Glycolysis is an evolutionarily conserved series of ten chemical reactions that utilizes eleven enzymes to concomitantly generate pyruvate and ATP from glucose. fructose kinase-2/fructose 2,6-bisphosphatase (PFK-2) stimulates the synthesis and degradation of fructose 2,6-bisphosphate. Glycogen phosphorylase (also known as GP) is an allosteric enzyme important in carbohydrate metabolism. Its activity is regulated through either noncovalent binding of metabolites or by covalent modification. Glycogen phosphorylase catalyzes the phosphorylation of glycogen to Glc-1-P. There are three genes which encode the brain, liver and muscle forms of glycogen phosphorylase, PYGB, PYGL and PYGM. Because of its fundamental role in the metabolism of glycogen, glycogen phosphorylase has been a target for the design of inhibitory compounds, which could be valuable in the therapeutic treatment of type 2 diabetes mellitus.

Supplier: Bioss

FNTA, also known as CAAX farnesyltransferase (FTase), attaches a farnesyl group from farnesyl pyrophosphate to cysteine residues at the fourth position from the C terminus of proteins that end in the so-called CAAX box, where C is cysteine, A is usually but not always an aliphatic amino acid, and X is typically methionine or serine. This type of posttranslational modification provides a mechanism for membrane localization of proteins that lack a transmembrane domain. This enzyme has the remarkable property of farnesylating peptides as short as four residues in length that conform to the CAAX consensus sequence. FNTA is also a specific cytoplasmic interactor of the transforming growth factor-beta and activin type I receptors. It is likely to be a key component of the signaling pathway which involves p21ras, an important substrate for farnesyltransferase.

Supplier: Bioss

CCDC112, also known as MBC1 (mutated in bladder cancer 1), is a 446 amino acid protein. The gene encoding CCDC112 is located on chromosome 5. Due to alternative splicing events, CCDC112 exists as two isoforms. Chromosome 5 comprises about 6% of human genomic DNA and contains 181 million base pairs encoding around 1,000 genes. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome

Supplier: Bioss

Members of the leucine-rich repeat family includes LRCH1, LRCH2, LRCH3 and LRCH4. All family members contain one calponin-homology domain and nine leucine-rich repeats. The best characterized leucine-rich repeat family member is LRCH4, which is suggested to be involved in ligand binding in the brain, with expression observed primarily in the hippocampus. As a cell adhesion molecule and signal receptor, LRCH4 may play an important role in maintenance of hippocampus-dependent memories, with defects in the gene possibly contributing to a loss of long-term memory. The gene encoding LRCH3 maps to human chromosome 3, which spans 200 million base pairs and encodes between 1,100 and 1,500 genes. There are three isoforms of LRCH3 that are produced as a result of alternative splicing events.

Supplier: Bioss

The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unusual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. The CXorf21 gene product has been provisionally designated CXorf21 pending further characterization.

Supplier: Bioss

Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May be involved in the regulation of PRC2 and PRC3 complex-dependent gene silencing.Tissue specificity: Widely expressed; the highest levels are in the kidney, skeletal muscle, liver, heart and spleen; also detected in pancreas, lung, placenta, brain, leukocytes, colon, small intestine, ovary, testis, prostate and thymus.

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 C6orf186 gene product has been provisionally designated C6orf186 pending further characterization.

Supplier: POWERBLANKET LLC MS

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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 C6orf146 gene product has been provisionally designated C6orf146 pending further characterization.

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 C6orf186 gene product has been provisionally designated C6orf186 pending further characterization.

Supplier: Bioss

C9orf140 (chromosome 9 open reading frame 140), also known as TS/MDEP (tumor specificity and mitosis phase-dependent expression protein) or p42.3, is a 394 amino acid nuclear and cytoplasmic protein encoded by a gene that maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

Supplier: Bioss

C9orf140 (chromosome 9 open reading frame 140), also known as TS/MDEP (tumor specificity and mitosis phase-dependent expression protein) or p42.3, is a 394 amino acid nuclear and cytoplasmic protein encoded by a gene that maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

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 C6orf146 gene product has been provisionally designated C6orf146 pending further characterization.

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 C6orf146 gene product has been provisionally designated C6orf146 pending further characterization.