33225 Results for: "Eosin+Y&pageNo=68"

Supplier: Bioss

ZNF420 contains 19 C2H2-type zinc fingers and 1 KRAB domain. It may be involved in transcriptional regulation. It is a negative regulator of p53-mediated apoptosis.

Supplier: Bioss

The RING finger family of proteins possess ubiquitin ligase activity and play pivotal roles in protein degradation and receptor-mediated endocytosis. The autoubiquitination activity of ZNF364 indicates that it is a novel RING-type E3 ligase. Its effects on cell growth indicate that ZNF364 may be important for the ubiquitin modification of proteins crucial to breast carcinogenesis and growth.

Supplier: Bioss

KCNJ9 belongs to the inward rectifier-type potassium channel family and is controlled by G proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. Inward rectifier potassium channels are characterised by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.

Supplier: Bioss

Pumilio 2 is a sequence-specific RNA-binding protein that regulates translation and mRNA stability by binding mRNA targets. It supports proliferation and self-renewal of stem cells by regulating the translation of key transcripts. The Pumilio gene encodes proteins that are required for development of germ stem cells in one or both sexes. The Pumilio protein interacts with the human Nanos1 protein and this interaction may play a conserved role in germ cell development. Pumilio 2 is highly expressed in testis and ovary and at lower levels in brain, heart, kidney, liver, muscle, placenta, intestine and stomach. It is also expressed in stem cells, germ cells and in most fetal tissues.

Supplier: Bioss

The function of BTB/POZ domain containing protein 6 is not known. The BTB/POZ domain is an evolutionarily conserved protein-protein interaction domain often found in developmentally regulated transcription factors. Many additional conserved motifs have been found in association with BTB/POZ domain, including kelch repeats, zinc finger domains, FYVE fingers and ankyrin repeats. BTB/POZ domain containing protein 6 may be involved in neuronal development and muscle formation.

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Aurora related kinase-1 (ARK-1) is a centrosome-associated serine/threonine kinase that regulates centrosome separation, bipolar spindle assembly and chromosome segregation during mitosis. Bora (protein aurora borealis) is a 559 amino acid protein that activates ARK-1. Bora is localised to the nucleus until mitosis is initiated, when it then translocates to the cytoplasm. This translocation is dependent on activated Cdc2, which releases Bora to bind and activate ARK-1 in the cytoplasm. Plk (polo-like kinase) interacts with Bora to control the accessibility of its activation loop for phosphorylation and activation on its N-terminus by ARK-1. It is through this mechanism that Bora and ARK-1 control cellular mitotic entry. Downregulation of the gene encoding Bora results in multipolar spindles in mitosis, a phenomenon that is also observed when ARK-1 function is blocked.

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C2orf29, also known as C40, is a 510 amino acid protein that belongs to the UPF0760 family and is encoded by a gene that maps to human chromosome 2q11.2. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

Supplier: Bioss

Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.

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The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyse the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia.

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The Per-Arnt-Sim (PAS) domain was identified as a 270 amino acid motif that mediates associations between various PAS family transcription factors. Several PAS domain family members have been identified including AhR, Arnt 1, and single-minded proteins (SIM1 and SIM2). The aromatic (aryl) hydrocarbon receptor, AhR, is a ligand dependent transcription factor that interacts with specific DNA sequences termed xenobiotic responsive elements (XREs) to activate several genes including CYP1A1, glutathione S-transferase Ya subunit and DT-diaphorase. The Ah receptor nuclear translocator protein 1 (Arnt 1) is required for ligand- dependent nuclear translocation of the Ah receptor and is also necessary for Ah receptor binding to the XRE element. Both SIM1 and SIM2 inhibit AhR/Arnt dimerization, thus inhibiting transcriptional activation. The SIM genes are thought to be involved in the directing and regionalization of tissues during development and the SIM2 gene, which is located on chromosome 21, is a candidate for the gene responsible for Down syndrome.

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BZW2, also known as HSPC028 or MSTP017, is a 419 amino acid protein that contains one W2 domain and is thought to be involved in neuronal differentiation. The gene encoding BZW2 maps to human chromosome 7. Chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localised to chromosome 7 have been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders, including cases of acute myelogenous leukemia and myelodysplasia.

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Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling.

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GLUT12 belongs to a family of transporters that catalyse the uptake of sugars through facilitated diffusion. Thirteen different types of glucose/fructose transport carrier proteins designated as Glut 1-13 facilitate glucose/fructose transport across the cell membrane. Individual members of the Glut family have predicted secondary structure characteristic of 12 membrane spanning domains of other transport carriers.

Supplier: Bioss

MD1 is a 28 kDa molecule that is associated at the cell surface with RP105 (CD180). RP105 is a leucine-rich repeat (LRR) molecule that is expressed on B lymphocytes. It was first identified by a mAb that protects spleen B cells from irradiation-induced apoptosis. LRR proteins, such as Toll receptors, have a role in innate immunity. MD1 is primarily expressed by B cells, dendritic cells and monocytes, and promotes the recognition of, and subsequent signaling by LPS in the innate immune system. MD1 does not have any homology to other molecules. MD1 when expressed alone behaves as a secretory protein. Expression of MD1 in a cell increases the expression of RP105.

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Protein transport across the nucleus is a selective, multi-step process involving several cytoplasmic factors that mediate protein passage through the nuclear pore complex (NPC). Cytoplasmic proteins that contain nuclear localisation signals (NLSs) must be recognised as import substrates, dock at the nuclear pore complex and translocate across the nuclear envelope in an ATP-dependent fashion. Karyopherin alpha 1 and karyopherin alpha 6 are widely expressed nuclear import proteins that act as adaptors for karyopherin 1, specifically binding to and guiding NLS-containing proteins to the NPC. Both karyopherin alpha 1 and karyopherin alpha 6 contain one IBB domain and ten ARM repeats through which they convey their protein binding and localisation function. Together, karyopherin å1 and karyopherin å6 are responsible for ensuring the nuclear import of NLS-containing substrates

Supplier: Bioss

This gene encodes a mitochondrially localised enzyme that catalyses the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterised by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf21 gene product has been provisionally designated C1orf21 pending further characterization.

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TP53I11 (Tumor protein p53 inducible protein 11), also referred to as PIG11 (p53-induced gene 11), is an early transcriptional target of tumor suppressor p53. It is up-regulated in the induction of apoptosis or cell growth inhibition by multiple chemopreventive agents. However, its biological role remains unclear.

Supplier: Bioss

Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.

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 C6orf165 gene product has been provisionally designated C6orf165 pending further characterisation.

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In cooperation with other chaperones, Hsp70s stabilise preexistent proteins against aggregation and mediate the folding of newly translated polypeptides in the cytosol as well as within organelles. These chaperones participate in all these processes through their ability to recognise nonnative conformations of other proteins. They bind extended peptide segments with a net hydrophobic character exposed by polypeptides during translation and membrane translocation, or following stress-induced damage. Sequence similarities Belongs to the heat shock protein 70 family.

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MFAP3L is a membrane protein that is highly expressed in testis. It contains 1 Ig-like C2-type (immunoglobulin-like) domain and has three named isoforms produced by alternative splicing. Its function remains unknown.

Supplier: Bioss

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.

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SMC5/6 complex is recruited to nuclease induced double strand breaks (DSBs) and is required for the recruitment of cohesin to DSBs. The human SMC5/6 complex and the SUMO ligase activity of hMMS21 are required for the prevention of DNA damage induced apoptosis by facilitating DNA repair in human cells.

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TNRC6B is a 1723 amino acid protein that exists as two alternatively spliced isoforms and is thought to be involved in mRNA cleavage events. Expressed ubiquitously, TNRC6B contains one glycine/tryptophan (GW)-rich N-terminal domain, one central glutamine-rich region and one C-terminal RNA recognition motif and is encoded by a gene that maps to human chromosome 22. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukaemias.

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Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity.

Supplier: Bioss

spindle microtubules. The checkpoint works by inhibiting the activity of the anaphase promoting complex, thereby preventing the degradation of several cell cycle regulators. Like other spindle checkpoint mutants, MAD1 loss-of-function mutants are sensitive to benomyl and cannot delay cell division in response to spindle depolymerization. Mad1p becomes hyperphosphorylated upon spindle depolymerization.

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DEPDC1.

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Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. in vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest.

Supplier: Bioss

C17orf77 is a 243 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1200 genes. Two key tumour suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. tumour suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognised as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterised by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.