127976 Results for: "Bioss"

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Members of the calsyntenin protein family are localized to the post-synaptic membrane of exicitatory central nervous system (CNS) synapses. Calsyntenin-2, also known as Alcadein-gamma, is a 955 amino acid protein that localizes to the endoplasmic reticulum, golgi apparatus and plasma membranes. Containing 2 cadherin-like repeats in its N-terminal extracellular region, calsyntenin-2 binds synaptic calcium with its cytoplasmic domain, suggesting a role in the modulation of calcium-mediated postsynaptic signals. Under normal physiological conditions, calsyntenin-2 is protoeolytically processed in an event in which the primary zeta-cleavage generates a short C-terminal transmembrane fragment and a long extracellular N-terminal domain.

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This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants.

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Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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. The KIAA1529 gene product has been provisionally designated KIAA1529 pending further characterization.

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Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

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AAMP is a 434 amino acid immunoglobulin-like protein that contains 8 WD repeats. Expressed in endothelial cells, cytotrophoblasts and blood vessels, AAMP is thought to have a heparin-sensitive role in cell adhesion and cell migration. AAMP is strongly expressed in poorly differentiated colon adenocarcinoma cells, suggesting a role for AAMP in tumor progression.

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AAMP is a 434 amino acid immunoglobulin-like protein that contains 8 WD repeats. Expressed in endothelial cells, cytotrophoblasts and blood vessels, AAMP is thought to have a heparin-sensitive role in cell adhesion and cell migration. AAMP is strongly expressed in poorly differentiated colon adenocarcinoma cells, suggesting a role for AAMP in tumor progression.

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Nocturnin is a 431 amino acid circadian deadenylase protein that is expressed in a broad range of tissues with greatest abundance in the liver, kidney and testis. Nocturnin plays a role in circadian regulation as well as diet-induced obesity. The mRNA abundance of Nocturnin exhibits circadian rhythmicity, peaking after dusk in photoreceptors, spleen, heart, kidney and liver. Nocturnin is thought to be responisble for turning off genes that are involved in circadian regulation. In Xenopus retinal photoreceptor cells, the rhythmic regulation of Nocturnin is thought to be controlled by phosphorylated CREB. Mice lacking Nocturnin remain lean on high fat diets with a reduction in visceral fat, which suggests that this protein may also be responsible for lipid metabolism and fat storage.

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Nocturnin is a 431 amino acid circadian deadenylase protein that is expressed in a broad range of tissues with greatest abundance in the liver, kidney and testis. Nocturnin plays a role in circadian regulation as well as diet-induced obesity. The mRNA abundance of Nocturnin exhibits circadian rhythmicity, peaking after dusk in photoreceptors, spleen, heart, kidney and liver. Nocturnin is thought to be responisble for turning off genes that are involved in circadian regulation. In Xenopus retinal photoreceptor cells, the rhythmic regulation of Nocturnin is thought to be controlled by phosphorylated CREB. Mice lacking Nocturnin remain lean on high fat diets with a reduction in visceral fat, which suggests that this protein may also be responsible for lipid metabolism and fat storage.

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Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.

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Encoding over 1,100 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 FAM62A gene product has been provisionally designated FAM62A pending further characterization.

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Cyclic guanosine monophosphate (cGMP) serves as a second messenger in a manner similar to that observed with cAMP. Peptide hormones, such as the natriuretic factors, activate receptors that are associated with membrane-bound guanylate cyclase (GC). Receptor activation of GC leads to the conversion of GTP to cGMP. Nitric oxide (NO) also stimulates cGMP production by activating soluble GC, perhaps by binding to the heme moiety of the enzyme. Similar to cAMP, cGMP mediates most of its intracellular effects through the activation of specific cGMP dependent protein kinases (PKG).

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HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. HIV1 Gag p17, the HIV1 matrix protein is produced by the digestion of its precursor Gag p55 by HIV1 protease.

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HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. HIV1 Gag p17, the HIV1 matrix protein is produced by the digestion of its precursor Gag p55 by HIV1 protease.

Supplier: Bioss

HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. p55 is digested by HIV1 protease into intermediate products p41 and p15. p41 is further digested into matrix protein p17 and capsid protein p24. Likewise, p15 is further digested into nucleocapsid protein p7 and to p6 and p1.

Supplier: Bioss

HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. p55 is digested by HIV1 protease into intermediate products p41 and p15. p41 is further digested into matrix protein p17 and capsid protein p24. Likewise, p15 is further digested into nucleocapsid protein p7 and to p6 and p1.

Supplier: Bioss

HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. p55 is digested by HIV1 protease into intermediate products p41 and p15. p41 is further digested into matrix protein p17 and capsid protein p24. Likewise, p15 is further digested into nucleocapsid protein p7 and to p6 and p1.

Supplier: Bioss

RFESD, also known as Rieske domain-containing protein, is a 157 amino acid protein that binds one 2Fe-2S cluster per subunit. Involved in metal ion binding, RFESD contains one Rieske domain. The RFESD gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q15. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Chromosome 5 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 caused by insertions or deletions within the TCOF1 gene and is also associated with chromosome 5. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase. The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.

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Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013].

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The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

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The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

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Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53. Acts as a key upstream regulator of AMPK by mediating phosphorylation and activation of AMPK catalytic subunits PRKAA1 and PRKAA2 and thereby regulates processes including: inhibition of signaling pathways that promote cell growth and proliferation when energy levels are low, glucose homeostasis in liver, activation of autophagy when cells undergo nutrient deprivation, and B-cell differentiation in the germinal center in response to DNA damage. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton. Required for cortical neuron polarization by mediating phosphorylation and activation of BRSK1 and BRSK2, leading to axon initiation and specification. Involved in DNA damage response: interacts with p53/TP53 and recruited to the CDKN1A/WAF1 promoter to participate in transcription activation. Able to phosphorylate p53/TP53; the relevance of such result in vivo is however unclear and phosphorylation may be indirect and mediated by downstream STK11/LKB1 kinase NUAK1. Also acts as a mediator of p53/TP53-dependent apoptosis via interaction with p53/TP53: translocates to the mitochondrion during apoptosis and regulates p53/TP53-dependent apoptosis pathways. In vein endothelial cells, inhibits PI3K/Akt signaling activity and thus induces apoptosis in response to the oxidant peroxynitrite (in vitro). Regulates UV radiation-induced DNA damage response mediated by CDKN1A.

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Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1.

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Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1.

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Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase. The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.

Supplier: Bioss

C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms,C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.

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Apolipoproteins are a family of fatty-acid binding proteins that transport fat through the bloodstream in the form of lipoproteins. ApoO (Apolipoprotein O), also known as FAM121B or My025, is a 198 amino acid single-pass membrane protein that belongs to the apolipoprotein family. Expressed ubiquitously with particularly high expression in diabetic heart tissue, apoO functions to promote the transport of cholesterol from macrophage cells and may be involved in regulatory mechanisms that protect lipid accumulation within the heart. ApoO is present in high density lipoproteins (HDLs) and low density lipoproteins (LDLs) and is secreted by an MTP (microsomal triglyceride transfer protein)-dependent mechanism. Two isoforms of apoO exist due to alternative splicing events.

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C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms,C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.

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BAR proteins are characterised by a common N-terminal BAR (bin, amphiphysin and Rvs161/167) domain and are recognised as adaptor proteins that are involved in many cellular processes. BIN1 and BIN2 are BAR proteins that share 61% sequence similarity. BIN1 (Bridging integrator 1) is a ubiquitously expressed regulatory protein for synaptic vesicle endocytosis. BIN1 also interacts with the transcription factors c-Myc and MyoD, potentially functioning as a tumour suppressor. BIN2, also known as Breast cancer-associated protein 1, is a 565 amino acid protein that interacts with BIN1. In contrast to BIN1, BIN2 lacks tumour suppressor features as well as a c-Myc interacting region. BIN2 shows preferred expression in tissues of hematopoietic origin, with high levels found in spleen, thymus, colon, placenta, lymphoid and granulocytic cells. There are two isoforms of BIN2 that are produced as a result of alternative splicing events.

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The innate immune system detects viral infection by recognizing various viral components and triggers antiviral responses. Like the toll-like receptor 3 (TLR3), the cytoplasmic helicase retinoic acid inducible gene protein 1 (RIG1/DDX58) recognizes double-stranded (ds) RNA, a molecular pattern associated with viral infection. Unlike TLR3 however, RIG1/DDX58 activates the kinases TBK1 and IKKe through the adaptor protein IPS1. These kinases then phosphorylate the transcription factors IRF3 and IRF7 which are essential for the expression of type-I interferons. RIG1/DDX58 is required for the production of interferons in response to RNA viruses including paramyxoviruses, influenza virus, and Japanese encephalitis virus.