118494 Results for: "Butelki+i+butle&pageNo=30"

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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 FAM102B gene product has been provisionally designated FAM102B pending further characterization.

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SPTLC1

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Advillin is an 819 amino acid protein that localizes to both the cytoplasm and the cytoskeleton and contains one HP domain and six gelsolin-like repeats. Expressed at high levels in colon and small intestine and at lower levels in uterus, thymus, testis and prostate, advillin functions as a calcium-regulated Actin-binding protein that may be involved in the development of neuronal cells, specifically those that form ganglia. The gene encoding advillin maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.

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BXDC2 is a 306 amino acid protein encoded by the human gene BXDC2. BXDC2 is a nuclear protein that contains one Brix domain. Brix domain containing proteins represent a family of proteins involved in the biogenesis of large ribosomal subunits. The Brix domain is a region that is homologous to the yeast protein Pitx1 (Ribosome biogenesis protein BRX1). Pitx1 is part of a complex that includes BXDC5, BXDC1 and PPAN. This complex is required for the biogenesis of the 60S ribosomal subunit. BXDC2 exhibits the same functions as Pitx1.

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The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. [provided by RefSeq, Jul 2008].

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C1orf187, also known as Draxin, Dorsal repulsive axon guidance protein and Neucrin, is a 349 amino acid secreted protein that is required of the development of the spinal cord and forebrain commissures. C1orf187 acts as a chemorepulsive guidance protein and directs commissural axons during development by repelling neurite outgrowth from the spinal cord. During development, C1orf187 modulates neural crest migration by reducing the polarization of these cells, leading to reduced velocity of migration and increased frequency of changing direction, leading to a net decrease in migrational distance. It acts as an antagonist of the Wnt signaling pathway by inhibiting the stabilization of cytosolic _-catenin via its interaction with LRP6. C1orf187 inhibits outgrowth from the olfactory bulb and likely contributes to the formation of the lateral olfactory tract.

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LRRC15 may contribute to regulation of cell-matrix adhesion interactions with respect to astrocyte recruitment around senile plaques in Alzheimer's disease brain. LRRC15 is induced by EWS-WT1(+KTS) in the tumor DSRCT and may play a role in cellular invasion.

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VIP causes vasodilation, lowers arterial blood pressure, stimulates myocardial contractility, increases glycogenolysis and relaxes the smooth muscle of trachea, stomach and gall bladder. PHM and PHV also cause vasodilation. PHM-27 is a potent agonist of the calcitonin receptor CALCR, with similar efficacy as calcitonin.

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Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play an important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. Acts in concert with KRIT1 to establish and maintain correct endothelial cell polarity and vascular lumen. These effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for activation of PRKCZ and for localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction.

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ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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Serotonin (also designated 5-hydroxytryptamine or 5-HT) is a molecule that functions as a neurotransmitter, a hormone and a mitogen, and it is predominantly expressed in the gut, platelets and central nervous system (CNS). In the CNS, serotonin modulates several processes, including anxiety, sleep, appetite, behavior and drug abuse. In platelets and gut, serotonin plays a major role in cardiovascular function and motility of the gastrointestinal tract, respectively. Serotonin mediates its effects through several of G protein coupled receptors, designated 5-HT receptors or alternatively SR receptors. The SR-2 receptors are comprised of three subtypes, SR-2A, SR-2B and SR-2C, which activate phospholipase C and release intracellular stores of calcium in response to serotonin. SR-2A has a specific role in tracheal smooth muscle contraction, bronchoconstriction and mediating aldosterone production, and it is also thought to play a role in several psychiatric disorders, including depression and schizophrenia. SR-2B is expressed in embryonic and adult cardiovascular tissues, gut and brain and plays an important role in the pathology of cardiac disorders. SR-2C is thought to mediate the effects of atypical antipsychotic drugs.

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Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.Component of the histone-fold protein complex CHRAC complex which faciliates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions.

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Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase.

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Chromosome 3 is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and 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. The C3orf30 gene product has been provisionally designated C3orf30 pending further characterization.

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Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The phosphorylation of the Thr residue by MAP2K7/MKK7 seems to be the prerequisite for JNK activation at least in response to proinflammatory cytokines, while other stimuli activate both MAP2K4/MKK4 and MAP2K7/MKK7 which synergistically phosphorylate JNKs. MAP2K4 is required for maintaining peripheral lymphoid homeostasis. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Whereas MAP2K7/MKK7 exclusively activates JNKs, MAP2K4/MKK4 additionally activates the p38 MAPKs MAPK11, MAPK12, MAPK13 and MAPK14.

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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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Protein phosphatase 2A (PP2A) is the most abundant phosphatase specific for serine and threonine phosphorylation in mammalian cells. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit alpha (PPP2R1A) serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory beta subunit.

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This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

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Voltage-dependent calcium channels are essential for the release of neurotransmitters. L-type (long lasting current) voltage-dependent calcium channels are composed of four subunits: an Alpha1 subunit, a Beta subunit, a Beta subunit and an Alpha2 Gamma subunit. The Beta subunit is encoded by four genes, designated Beta1-Beta 4, all of which contribute to the diversity of calcium currents and are involved in membrane trafficking of the Beta subunit. L-type Ca++ CP Beta 4, also known as CACNB4 (Calcium channel voltage-dependent subunit beta 4), CACNLB4 or CAB4, is a 484 amino acid protein that contains one SH3 domain and is expressed in ovary, brain and smooth muscle. Functioning as one of the four components of the Beta subunit, L-type Ca++ CP Beta 4 increases the peak calcium current in voltage-dependent calcium channels, thereby shifting the voltage dependencies of activation and inactivation and controlling G protein inhibition and Beta membrane targeting. Two isoforms of L-type Ca++ CP Beta4 exist due to alternative splicing events.

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The exact function of SDCCAG8 remains unknown. It is expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.

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Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion.

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IBP160.

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GPR15 is a probable chemokine receptor,its expression has been reported in CD4(+) T lymphocytes, alveolar macrophages, and the basal surface of the small intestinal epithelium. ESTs have been isolated from normal brain and kidney cancer libraries.This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012].

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HHIPL1.

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The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eucaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and thus may be involved in controlling the timing of mitosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Inhibitor subunit of the major nuclear protein phosphatase 1 (PP1). It has RNA binding activity but does not cleave RNA and may target PP1 to RNA associated substrates. May also be involved in pre mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation.

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Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.

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The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]

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Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT). Plays a role in the proteolytic processing of ACE2.

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Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repellent activity on axons and is for instance involved in the guidance of corticothalamic axons and in the proper topographic mapping of retinal axons to the colliculus. May also regulate brain development through a caspase(CASP3)-dependent proapoptotic activity. Forward signaling may result in activation of components of the ERK signaling pathway including MAP2K1, MAP2K2, MAPK1 AND MAPK3 which are phosphorylated upon activation of EPHA7.