127934 Results for: "Bioss"

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This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1.

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Glucose-6-phosphatase (G6Pase), is a multicomponent enzyme system that hydrolyzes glucose-6-phosphate (G6P) in the final step of gluconeogenesis and gluconeolysis. G6Pase localizes to the endoplasmic reticulum, and while liver, kidney, and intestine are the only tissues that express the first identified isoform, G6Pase-Alpha, a second form, designated G6Pase-Beta, contributes to blood glucose homeostasis in a wider range of tissues. G6Pase-Beta, also known as SCN4, UGRP or G6PC3 (glucose 6 phosphatase, catalytic, 3), is a 346 amino acid endoplasmic reticulum multi-pass membrane protein that is involved in carbohydrate biosynthesis and the gluconeogenesis pathway. Inhibited by vanadate, G6Pase-Beta hydrolyzes GP6 to glucose in the endoplasmic reticulum. Due to its necessary involvement in normal glucose metabolism, G6Pase-Beta may play an integral role in diabetes and glycogen storage diseases (GSDs).

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Cystatin A and cystatin B (also designated PME, CST6, STFB, CPI-B, stefin B and liver thiol proteinase inhibitor) are thiol protease inhibitors that form complexes with papain and the cathepsins B, H, and L. Cystatin A, a cytoplasmic protein, is one of the precursor proteins of the cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Cystatin B protects against intracellular proteases leaking out of lysosomes and is primarily expressed in heart, liver and kidney.

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Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML.

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The c Abl proto oncogene encodes a protein tyrosine kinase that is located in the cytoplasm and nucleus. In chronic myelogenous leukaemia and in a subset of acute lymphoblastic leukaemias, the c Abl proto oncogene undergoes a (9;22) chromosomal translocation producing a novel rearranged chromosome (the Philadelphia chromosome) As the result of the fusion of c Abl sequences from chromosome 9 to the Bcr gene on chromosome 22. The molecular consequence of this translocation is the generation of a chimeric Bcr/Abl mRNA encoding activated Abl protein tyrosine kinase.

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Apoptotic signals are often triggered by cell surface death receptors through protein-protein interactions mediated by conserved domains such as the death effector domain. A novel death effector domain (DED)-containing protein, DEDD2, has been recently identified. Over-expression of DEDD2 in transfected cells induces moderate apoptosis and results in substantial sensitization to apoptosis induced by Fas, TRAIL, and FADD. More recently, it has been shown that DEDD2 can bind caspase-8 and -10 in addition to FLIP but not FADD. Like the related protein DEDD, DEDD2 translocates from the cytosol to the nucleus upon induction of apoptosis, and it has been suggested that DEDD2 may target caspase-8 to the nucleus and that DEDD2 thus plays a critical role in death receptor-induced apoptosis. At least two alternatively spliced transcript variants encoding distinct isoforms have been found for DEDD2.

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Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq].

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With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. It 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 also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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Ephrin B proteins are thought to play key roles in cellular functions as diverse as neuronal migration and blood vessel development. Ephrin B molecules expressed at the membrane surface bind to the Ephrin B family receptors on target cells during cell to cell contact. This interaction leads to cell signaling in the target cell but also generates a reverse signal in the cell expressing Ephrin B on its surface. This reverse signaling event is thought to be critical for vessel maturation and neuronal development. Importantly, tyrosine phosphorylation of Ephrin B is thought to be a critical component of this reverse signaling event. Recent work demonstrated that Tyr331 of Ephrin B was phosphorylated in HEK293 cells after stimulation by the soluble Ephrin B2 receptor tyrosine kinase.

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TNF Alpha-IP 8L2 (tumor necrosis factor, alpha-induced protein 8-like 2), also known as TIPE2, is a 184 amino acid protein that shares 94% identity with its mouse counterpart and belongs to the TNFAIP8 family. Expressed in spleen, thymus, small intestine and lymph node with lower levels present in colon, lung and skin, TNF Alpha-IP 8L2 plays a role in maintaining immune homeostasis, specifically by acting as a negative regulator of both innate and adaptive immunity. In addition, TNF?IP 8L2 functions as a negative regulator of T-cell receptor function and is thought to promote Fas-induced apoptosis. The gene encoding TNF?IP 8L2 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.

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Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDH10 (protocadherin 10), also known as PCDH19 or OL-PCDH, is a 1,040 amino acid single-pass type I membrane protein that contains six cadherin domains and one transmembrane domain. Expressed at moderate levels in brain, ovary and testis and present at lower levels in all other tissues, PCDH10 functions as a calcium-dependent cell-adhesion protein that may function as a tumor suppressor. When underexpressed, PCDH10 is associated with the progression of various carcinomas, including gastric cancer.

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May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid.

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Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.

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The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport and maintain cellular volume. The genes encoding human CLC-1 through CLC-7 map to chromosomes 7q32, 3q28, 4q32, Xp22.3, Xp11.23-p11.22, 1p36 and 16p13, respectively. CLC1 is highly expressed in skeletal muscle. Mutations in the gene encoding CLC1 lead to myotonia, an inheritable disorder characterized by muscle stiffness and renal salt wasting. CLC2 is highly expressed in the epithelia of several organs including lung, which suggests CLC2 may be a possible therapeutic target for cystic fibrosis. CLC3 expression is particularly abundant in neuronal tissue, while CLC4 expression is evident in skeletal and cardiac muscle as well as brain. Mutations in the gene encoding CLC5 lead to Dent’s disease, a renal disorder characterized by proteinuria and hypercalciuria. CLC6 and CLC7 are broadly expressed in several tissues including testis, kidney, brain and muscle.

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Chk2 is a serine/threonine kinase involved in the control of cell cycle checkpoints, and may also participate in transduction of the DNA damage and replicational stress signals. Chk2 is the mammalian ortholog of the budding yeast Rad53 and fission yeast Cds1 checkpoint kinases. The amino-terminal domain of Chk2 contains a series of seven serine and threonine residues (Ser19, Thr26, Ser28, Ser33, Ser35, Ser50 and Thr68) followed by glutamine (SQ or TQ motif). These are known to be preferred sites for phosphorylation by ATM/ATR kinases. Indeed, after DNA damage by ionizing radiation (IR), UV irradiation or hydroxyurea treatment, Thr68 and other sites in this region become phosphorylated by ATM/ATR. The SQ/TQ cluster domain, therefore, seems to have a regulatory function. Phosphorylation at Thr68 is a prerequisite for the subsequent activation step, which is attributable to autophosphorylation of Chk2 on residues Thr383 and Thr387 in the activation loop of the kinase domain. Chk2 inhibits CDC25C phosphatase by phosphorylating it on Ser-216, preventing the entry into mitosis. This kinase may have a role in meiosis as well. Kinase activity is up regulated by autophosphorylation and the protein is rapidly phosphorylated in response to DNA damage and to replication block.

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K88-K99 minor fimbrial subunit, plays an essential role in the biogenesis of the K99 fimbriae. required at some step in the initiation and/or elongation of the K99 fimbriae.

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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.

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Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The KIAA1576 gene product has been provisionally designated KIAA1576 pending further characterization.

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Isocitrate dehydrogenases catalyse the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localise to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyse the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. IDH3A is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase.

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Heterotrimeric G protein-mediated signal transduction is a dynamically regulated process with the intensity of signal decreasing over time despite the continued presence of the agonist (1,2). G protein-coupled receptor kinases (GRKs) are activated by activated G protein-coupled receptors, and they function to phosphorylate and inactivate cell surface receptors in the heterotrimeric G protein signaling cascade (3,4). GIT1 (for GRK-interactor 1) and GIT2 are GTPase-activating proteins (GAP) for members of the ADP ribosylation factor (ARF) family of small GTP-binding proteins, which are involved in vesicular trafficking (5,6). GIT1 overexpression results in reduced internalization and resensitization of b2-adrenergic receptor, thus reducing b2-adrenergic receptor signaling (5).

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The complement factor C3 consists of an alpha and a beta chain. C3 is a central factor in the complement cascade. It is central to the alternative pathway that leads to the C3 convertase C3bBb. The classical mannose binding lectin activation pathway leads to the C3 convertase C4b2a. These convertases cleave C3 resulting in C3a and C3b. Further degradation leads to the formation of the alpha chain products C3d, C3g and C3c. C3 is an acute phase protein that is produced by a wide range of tissues, including renal epithelial cells and hepatocytes.

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p130 represents one of several known substrates for v-Crk encoded p47. p130 Cas (for Crk-associated substrate) exhibits a high level of tyrosine phosphorylation and is tightly associated with v-Crk, suggesting a role in v-Crk-mediated cell Signalling. The molecular cloning of p130 Cas has shown it to represent a novel SH3 containing Signalling molecule with a cluster of multiple putative SH2-binding motifs for v-Crk. By immunoprecipitation analysis, p130 Cas has been shown to be highly phosphorylated at tyrosine residues subsequent to either v-Src p60 or v-Crk-mediated transformation and to form stable complexes with both of these transforming proteins. p130 Cas behaves as an extremely potent substrate for protein tyrosine kinases and has been reported to relocate from the cytoplasm to cell membrane upon tyrosine phosphorylation. One proposed model is that the SH2 domain of v-Crk functions to activate c-Src kinase, which in turn phosphorylates p130 Cas.

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NAP125, also known as NCKAP1 (NCK-associated protein 1), p125Nap1 or membrane-associated protein HEM-2, is a 1,128 amino acid single pass membrane protein that exists as two alternatively spliced isoforms and belongs to the HEM-1/HEM-2 family. While widely expressed, NAP125 is found at highest levels in heart, brain and skeletal muscle where it regulates Rac-dependent actin remodeling as part of a lamellipodial complex with WAVE2, Abi-1 and CYFIP1. NAP125 localizes to the cytoplasmic side of lamellipodium membrane and is encoded by a gene that maps to human chromosome 2q32.1 and mouse chromosome 2 C3. NAP125 expression is markedly reduced in Alzheimer disease (AD)-affected brains, suggesting a possible role in the disease.

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The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukemias. The C21orf88 gene product has been provisionally designated C21orf88 pending further characterization.

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Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea.

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BCL2L15.

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Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 R5 isolates.

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CGI-99 is a 244 amino acid protein that localizes to the nucleus, as well as to the cytoplasm, and belongs to the UPF0568 family. Expressed in a variety of tissues with particularly high levels in heart and skeletal muscle, CGI-99 functions as a homodimer that interacts with Ninein and is thought to regulate Ninein function. CGI-99 is overexpressed in brain tumor tissue, suggesting a role in tumor development and metastasis. The gene encoding CGI-99 maps to human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.

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Chromosome 22 contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translo-acations 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 leukemia. The C22orf26 gene product has been provisionally designated C22orf26 pending further characterization.

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Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.