54781 Results for: "2-Chloroquinoline-5-carboxylic+acid&pageNo=48"

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Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.

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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 C6orf154 gene product has been provisionally designated C6orf154 pending further characterisation.

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Contributes to degradation of proteins cross-linked by transglutaminases. Degrades the cross-link between a lysine and a glutamic acid residue from two proteins that have been cross-linked by transglutaminases. Catalyzes the formation of 5-oxoproline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine.

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Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA.

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ALKB protects DNA and RNA against damage from methylating compounds from the environment by directly reversing 1-methyladenine (1-meA) and 3-methylcytosine (3-meC) cytotoxic alkylation lesions in DNA and RNA. The enzymes act by oxidative demethylation, utilizing ferrous iron and alpha-ketoglutarate as cofactors, 2-oxoglutarate as a co-substrate, and molecular oxygen as the oxidizing agent. Deficiencies in DNA and RNA repair in mammals are associated with cancer, neurological disease and developmental defects. ALKB plays a role in resistance to anti-cancer drugs which attempt to damage tumor DNA. Escherichia coli ALKB protein belongs to the superfamily of 2-oxoglutarate- and iron(II)-dependent oxygenases.

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This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis.

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DEPDC1

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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 C20orf26 gene product has been provisionally designated C20orf26 pending further characterization.

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The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009].

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TorsinB is a 336 amino acid protein that localizes to the lumen of endoplasmic reticulum and belongs to the Torsin family. Expressed in a variety of tissues with particularly high levels in adult brain, TorsinB is thought to function as a molecular chaperone that assists in the conformational folding of membrane and secreted proteins. Via its ability to regulate protein folding, TorsinB plays a key role in postnatal developmental events and is essential for proper neurological development. TorsinB contains two PKC (protein kinase C) phosphorylations sites, one ATP binding domain and several conserved cysteines and shares 69% amino acid identity with TorsinA, a related family member. Defects in the gene encoding TorsinB are associated with torsion dystonia, an autosomal dominant neurological disorder that is characterized by debilitating muscle contractions throughout the body.

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Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors.

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Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).

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Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 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 C6orf62 gene product has been provisionally designated C6orf62 pending further characterization.

Supplier: Bioss

Voltage-gated K+ channels in the plasma membrane control the repolarization and the frequency of action potentials in neurons, muscles, and other excitable cells. The KV gene family encodes more than 30 genes that comprise the subunits of the K+ channels, and they vary in their gating and permeation properties, subcellular distribution, and expression patterns. Functional KV channels assemble as tetramers consisting of pore-forming alpha-subunits (KV alpha), which include the KV1, KV2, KV3, and KV4 proteins, and accessory or KV beta subunits that modify the gating properties of the coexpressed KV alpha subunits. Differences exist in the patterns of trafficking, biosynthetic processing and surface expression of the major KV1 subunits (KV1.1, KV1.2, KV1.4, KV1.5 and KV1.6) expressed in rat and human brain, suggesting that the individual protein subunits are highly regulated to control for the assembly and formation of functional neuronal channels.

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Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro.

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GCF (GC-rich sequence DNA-binding factor), also known as C2orf3 (chromosome 2 open reading frame 3), transcription factor 9 (TCF-9) or DNABF, is a 781 amino acid nuclear protein that belongs to the GCF family. Widely expressed, GCF binds the GC-rich sequences of _-Actin, EGFR and calcium-dependent protease (CANP) promoters. GCF contains multiple phosphoserine and phosphothreonine residues, and two GCF isoforms are produced due to alternative splicing events. GCF is considered a candidate for susceptibility to dyslexia (DYX3) as both genes reside in close proximity on human chromosome 2. Chromosome 2 is the second largest human chromosome and consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome.

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The isthmic organizer signals at the mid/hindbrain boundary (MHB) regulate the development and differentiation of the vertebrate caudal midbrain and the anterior hindbrain. The MHB forms at the boundary of expression between homeobox genes Gbx2 and Otx2. Gbx2 and Otx2 play distinct, essential roles in MHB positioning and development. During development, the GBX2 gene is expressed in the anterior hindbrain. Specifically, Gbx2 negatively regulates Otx2 expression along the anterior-posterior axis; Gbx2(-) mutants demonstrate an expanded Otx2 domain. During development, the GBX2 gene is expressed in the anterior hindbrain. Gbx2 is expressed in the adult brain, spleen and female genital tract. The GBX2 gene is over-expressed in human prostate cancer cell lines (TSU-prl, PC3, DU145 and LNCaP). Furthermore, downregulation of Gbx2 expression restricts tumorigenicity in human prostate cancer cell lines, which suggests that Gbx2 expression may be required for growth of malignant prostate cells.

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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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BEGAIN is a 593 amino acid protein that localizes to cytoplasm and membrane. BEGAIN interacts with PSD-95 and SAPAP1 and forms a ternary complex and may sustain the structure of the postsynaptic density (PSD). BEGAIN is a novel PSD component associated with the core complex of PSD-95 and SAPAP. Because BEGAIN and SAPAP interact with the same region of PSD-95, BEGAIN and SAPAP may compete for the binding to PSD-95 and cannot interact with PSD-95 simultaneously. The C-terminal region of BEGAIN is involved in the interaction with PSD-95 whereas the N-terminal region has a coiled-coil structure that may interact with other molecules. BEGAIN is specifically expressed in brain and enriched in the PSD fraction. BEGAIN is also expressed in neurons and enriched at synaptic junctions, and is likely involved in the organization of synaptic junction components.

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KNDC1 is a 1,749 amino acid protein that contains two KIND domains and an N-terminal Ras-GEF domain. Expressed in the cerebral cortex, KNDC1 is a likely guanine nucleotide exchange factor (GEF). Existing as six alternatively spliced isoforms, the gene encoding KNDC1 maps to human chromosome 10q26.3 and mouse chromosome 7 F4. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.

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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.

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ACLP2 (acid phosphatase-like 2), also known as UNQ370 or PRO706, is a 480 amino acid secreted protein that functions to catalyze the H2O-dependent conversion of a phosphate monoester to an alcohol and a phosphate. Expressed as two alternatively spliced isoforms, ACPL2 is encoded by a gene that maps to chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

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Junctophilins are components of the junctional complexes between plasma membranes and endoplasmic or sarcoplasmic reticulums present in all excitable cells. Junctophilins contain a cytoplasmic domain which binds to the plasma membrane, as well as an ER/SR membrane spanning hydrophobic C-terminal segment. The three subtypes in this family are Junctophilin-1, -2 and -3. Junctophilin-1 is predominantly expressed in skeletal muscle, but is also expressed at low levels in heart. Junctophilin-2 is expressed in heart and skeletal muscle. Mutant mice lacking the Jph2 gene exhibit embryonic lethality and possess cardiac myocytes that express abnormal calcium transients. Junctophilin-3 is expressed in brain. The JPH3 alternatively spliced exon 2A has been suggested as a site for CTG repeat expansion leading to a Huntington disease-like autosomal dominant disorder.

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This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013].

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This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). [provided by RefSeq, Jul 2008].

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HEMK2 is a 214 amino acid protein that belongs to the methyltransferase superfamily and exists as multiple alternatively spliced isoforms. The gene encoding HEMK2 maps to human chromosome 21, which houses approximately 300 genes and comprises nearly 1,5% of the human genome. Chromosome 21-associated disorders include Alzheimer's disease, amyotrophic lateral sclerosis and, most notably, Down syndrome (also known as trisomy 21).

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Cell adhesion molecules influence cell growth, differentiation, embryogenesis, immune response and cancer metastasis by networking information from the extracellular matrix to the cell. Sidekick-1 (SDK1) is a 2,213 amino acid single-pass membrane protein that functions as a cell adhesion molecule by guiding axonal terminals to specific synapses in developing neurons. Existing as three alternatively spliced isoforms, Sidekick-1 is expressed in retinal neurons and contains thirteen fibronectin type-III domains and six Ig-like C2-type (immunoglobulin-like) domains. Sidekick-1 expression is upregulated in glomeruli of patients with HIV-associated nephropathy, where it leads to podocyte dysfunction. The gene encoding Sidekick-1 maps to human chromosome 7p22.2 and murine chromosome 5 G2.

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The exosome is a multisubunit complex composed of several highly conserved subunits, some of which are 3’ to 5’ exoribonucleases. The complex is involved in a variety of cellular processes and is responsible for degrading unstable mRNAs that contain AU-rich (ARE) elements in their untranslated 3’ region. DIS3L2 (DIS3-like exonuclease 2) is an 885 amino acid protein that is thought to function as an exonuclease and may be required for the 3’ processing of pre-mRNA into mature mRNA. Defects or chromosomal translocations involving the gene encoding DIS3L2 may be associated with Marfanoid habitus, a genetic disorder characterized by abnormalities in the skeleton, eyes and cardiovascular system. DIS3L2 is expressed as five isoforms due to alternative splicing events.

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This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008].