54835 Results for: "Kwas+6-aminopikolinowy&pageNo=48"

Supplier: Bioss

GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine-phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve SDCCAG3 and PTPN13 (By similarity).

Supplier: Bioss

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations of SMN (survival of motor neuron) gene. SMN, also known as Gemin1, SMN1, SMNT and BCD541, exists as four isoforms produced by alternative splicing. SMN is oligomeric and forms a complex with Gemin2 (formerly SIP1), Gemin3 (a DEAD box RNA helicase), Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in splicesomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (gemini of the coiled bodies). Cytoplasmic SMN interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs, and nuclear SMN mediates recycling of pre-mRNA splicing factors. Nearly identical telomeric and centromeric forms of SMN encode the same protein; however, only mutations in the telomeric form are associated with the disease-state SMA. SMN is expresed in a wide variety of tissues including brain, kidney, liver, spinal cord and moderately in skeletal and cardiac muscle.

Supplier: Bioss

Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization.

Supplier: Bioss

Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Acyl-coenzyme A Thioesterase 8, also known as ACOT8 may mediate Nef-induced down-regulation of CD4. It is a major thioesterase in peroxisomes and competes with BAAT (Bile acid CoA: amino acid N-acyltransferase) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). It shows a preference for medium-length fatty acyl-CoAs and may be involved in the metabolic regulation of peroxisome proliferation.

Supplier: Bioss

Wolfram syndrome protein (WFS1) is an 890 amino acid protein that contains a cytoplasmic N-terminal domain, followed by nine-transmembrane domains and a luminal C-terminal domain. WFS1 is predominantly localized to the endoplasmic reticulum (ER) (1) and its expression is induced in response to ER stress, partially through transcriptional activation (2,3). Research studies have shown that mutations in the WFS1 gene lead to Wolfram syndrome, an autosomal recessive neurodegenerative disorder defined by young-onset, non-immune, insulin-dependent diabetes mellitus and progressive optic atrophy (4).

Supplier: Bioss

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Supplier: Bioss

Rabphilin-3AL (rabphilin-3A-like), also known as RPH3AL or NOC2, is a cytoplasmic Rab GTPase effector. It contains one FYVE-type zinc finger and one Rab-binding (RBD) domain, but unlike its related protein, rabphilin-3A, rabphilin-3AL does not contain any C2 domains. Rabphilin-3AL is expressed in a variety of tissues, with highest levels found in kidney, skeletal muscle, pancreas, liver, ovary, stomach, heart and thyroid. It is believed to play a role regulating calcium-dependent secretory vesicle exocytosis in endocrine and exocrine cells. Via its RBD domain, rabphilin-3AL is capable of binding Rab 27a and, through this interaction, rabphilin-3AL is recruited to dense-core vesicles. With lower affinity, rabphilin-3AL can also bind Rab 3 and Rab 8 with its RBD domain. Through an interaction with Rab 3, rabphilin-3AL can inhibit G-protein signaling in endocrine pancreas and positively regulate insulin secretion. Rabphilin-3AL knockout mice display accumulation of secretory granules and irregular shape in exocrine cells.

Supplier: Bioss

C9orf103 (chromosome 9 open reading frame 103), also known as gluconate kinase, is a 187 amino acid protein that belongs to the gluconokinase gntK/gntV family and catalyses the conversion of ATP and D-gluconate to ADP and 6-D-gluconate. Existing as three alternatively spliced isoforms, the gene encoding C9orf103 maps to human chromosome 9q21.32. 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 characterised 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.

Supplier: Bioss

ATF2 is a member of the ATF/CREB family of basic region leucine zipper DNA binding proteins that regulates transcription by binding to a consensus cAMP response element (CRE) in the promoter of various viral and cellular genes. Many of these genes are important in cell growth and differentiation, and in stress and immune responses. ATF2 is a nuclear protein that binds DNA as a dimer and can form dimers with members of the ATF/CREB and Jun/Fos families. It is a stronger activator as a heterodimer with cJun than as a homodimer. Several isoforms of ATF2 arise by differential splicing. The stable native full length ATF2 is transcriptionally inactive as a result of an inhibitory direct intramolecular interaction of its carboxy terminal DNA binding domain with the amino terminal transactivation domain. Following dimerization ATF2 becomes a short lived protein that undergoes ubiquitination and proteolysis, seemingly in a protein phosphatase-dependent mechanism. Stimulation of the transcriptional activity of ATF2 occurs following cellular stress induced by several genotoxic agents, inflammatory cytokines, and UV irradiation. This activation requires phosphorylation of two threonine residues in ATF2 by both JNK/SAP kinase and p38 MAP kinase. ATF2 is abundantly expressed in brain.

Supplier: Bioss

Kallikrein 11 has two alternative splicing isoforms, known as the brain type and prostate type. Elevated serum levels of hK11 have been found in 70% of women with ovarian cancer and in 60% of men with prostate cancer. Analysis of this biomarker in serum may aid in the diagnosis and monitoring of ovarian and prostatic carcinoma.

Supplier: Bioss

Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf166 gene product has been provisionally designated C20orf166 pending further characterization.

Supplier: Bioss

G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores. Plays a role in the regulation of 5-hydroxytryptamine release and in the regulation of dopamine and 5-hydroxytryptamine metabolism. Plays a role in the regulation of dopamine and 5-hydroxytryptamine levels in the brain, and thereby affects neural activity, mood and behavior. Plays a role in the response to anxiogenic stimuli.

Supplier: Bioss

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. ELL3 is a 397 amino acid nuclear protein that functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. Though similar to ELL and ELL2, ELL3 is exclusively expressed in testis.

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The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011].

Supplier: Apollo Scientific

6-Chloro-3-methyl-1H-imidazo[4,5-b]pyridin-2(3H)-one

Supplier: Bioss

This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described.

Supplier: Bioss

SH3BGRL2

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Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes.

Supplier: Bioss

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012]

Supplier: Bioss

Essential for the control of the cell cycle at the G2/M (mitosis) transition.

Supplier: Bioss

Band 3, also designated AE1, is an erythrocyte membrane glycoprotein that contributes to cell stuctural integrity and mediates exchange of chloride and bicarbonate across the phospholipid bilayer. The diverse functions of the approximately 900 amino acid protein are mediated by two distinct domains. The amino terminal domain, also known as cdb3 for cytoplasmic domain of erthrocyte membrane band 3, acts as an attachment site for the erythrocyte skeleton by binding ankyrin. The carboxy-terminal, membrane-associated domain carries out exchange transport of anions. Degradation of band 3 can generate an aging antigen known as senescent cell antigen, or SCA, which is expressed on old cells and marks them for removal by the immune system. An isoform of band 3, which lacks the first 65 amino acids and does not bind ankryin, is expressed in kidney.

Supplier: Bioss

Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis.

Supplier: Bioss

Myotubularin and the myotubularin-related proteins (MTMR1-9) belong to a highly conserved family of eukaryotic phosphatases. They are protein tyrosine phosphatases that utilize inositol phospholipids, rather than phosphoproteins, as substrates. MTMR family members hydrolyze both Phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2. MTMR2 interacts with MTMR5, an inactive family member that increases the enzymatic activity of MTMR2 and dictates its subcellular localization. Mutations in MTMR2 cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1), which is characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination. MTMR3 and MTMR4 can either interact with each other or self associate. MTMR6 regulates the activity of the calcium-activated potassium channel 3.1. MTMR9 regulates the activity of MTMR7 and MTMR8.

Supplier: Bioss

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 characterised 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 C9orf68 gene product has been provisionally designated C9orf68 pending further characterisation. There are two isoforms of C9orf68 that are produced as a result of alternative splicing events.

Supplier: Bioss

Activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.Tissue specificity:Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic HepG2 and HK293 cells.

Supplier: Bioss

Neurexophilin family (Neurexophilin-1-4) of neuropeptide-like glycoproteins that are proteolytically processed after synthesis. Neurexophilin-1-3 are secreted proteins that are thought to function as signaling molecules which specifically bind to target proteins, such as neurexin I?(a protein that promotes adhesion between dendrites and axons), and are essential for proper neurotransmitter release. While Neurexophilin-1 is located primarily in spleen tissue, Neurexophilin-2 is expressed primarily in kidney and both Neurexophilin-2 and Neurexophilin-3 are highly expressed in brain. Defects in the gene encoding Neurexophilin-1 may be associated with schizophrenia, a mental disorder characterized by an abnormal perception of reality.

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 C6orf163 gene product has been provisionally designated C6orf163 pending further characterisation.

Supplier: Bioss

As a subfamily of the cadherin superfamily, protocadherins are cadherin-like cell adhesion proteins that contain up to seven extracellular domains and are predominantly expressed in the nervous system. Importantly, the adhesion mechanism of protocadherins is distinct from classic cadherins. Through inactivation or overexpression, several protocadherins have been implicated in a variety of cancers. Protocadherin-20 (PCDH20), also known as protocadherin-13, is a 924 amino acid protein containing 6 cadherin domains and potentially functioning as a calcium-dependent cell-adhesion protein. In non-small cell lung cancer cell lines, a homozygous loss of PCDH20 was identified through either deletion of one allele and methylation of the other or methylation of both alleles. Hypermethylation of PCDH20 is associated with worse prognosis and clinical outcome, suggesting that PCDH20 may function as a tumor suppressor.

Supplier: Bioss

This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].

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 C6orf70 gene product has been provisionally designated C6orf70 pending further characterisation.