66591 Results for: "Aceton-D6&pageNo=48"

Supplier: Bioss

This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene.

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CPXCR1 is widely expressed in fetal tissues, including the tongue, mandible and palate with an unknown function. Cleft palate most commonly occurs as a sporadic multifactorial disorder with a clear but difficult to define genetic component. As a semi-dominant disorder, X-linked cleft palate (CPX) provides a useful model to investigate a congenital defect that is little influenced by non-genetic factors.

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NEPH2 is a 778 amino acid single-pass type I membrane protein that belongs to the nephrin-like protein family and immunoglobulin superfamily. Expressed in both fetal and adult brain, as well as podocytes of kidney glomeruli, NEPH2 contains five Ig-like C2-type (immunoglobulin-like) domains and is thought to plaly a role in the hematopoetic supportive capacity of stroma cells. NEPH2 undergoes alternative splicing to produce two isoforms and contains a C-terminal cytoplasmic domain which it uses to interact with Podocin, a podocyte protein involved in ultrafiltration. Defects in the gene encoding NEPH2 are associated with mental retardation autosomal dominant type 4 (MRD4).

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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 C6orf35 gene product has been provisionally designated C6orf35 pending further characterisation.

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Cyclooxygenases metabolize arachidonate to five primary prostanoids: PGE2, PGF2?, PGI2, TXA2 and PGD2. These lipid mediators interact with specific members of G protein-coupled prostanoid receptors, designated EP, FP, IP, TP and DP, respectively. The IP Receptor binds prostacyclin, PGI2, the main pro-stanoid synthesized by vascular tissues.Upon binding to the IP Receptor, prostacyclin activates adenylate cyclase primarily through the Gas protein. The gene encoding the human IP Receptor is located on chromosome 19. It is expressed as a glycosylated and phosphorylated protein, which is abundantly expressed in vascular tissues such as aorta, lung, atrium and ventricle, as well as in kidney, thymus, spleen and neurons.

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The sterile alpha motif (SAM) domain is a 70 residue structure found in a large number of proteins involved in diverse processes present throughout eukaryotes. The SAM domain is known to bind RNA and is arranged in a small five-helix bundle with two large interfaces. SAMD14 (sterile alpha motif domain-containing protein 14) is a 417 amino acid protein encoded by the SAMD14 gene which maps to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth, Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease.

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Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins alpha-M/beta-2 and alpha-X/beta-2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin alpha-X/beta-2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin alpha-M/beta-2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin alpha-M/beta-2 is also a receptor for factor X. Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation.

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Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction.

Supplier: Bioss

The Ovo family of zinc-finger transcription factors encode evolutionarily conserved genes including those from Caenorhabditis elegans, Drosophila melanogaster, mouse and human. Members of the Ovo family include Ovol1 and Ovol2. Ovol1 acts as a transcriptional repressor by interacting with key developmental signaling pathways such as Wnt and TGF-∫/BMP. Specifically, Ovol1 represses c-Myc and Id2 genes and establishes a balance between proliferation and differentiation of progenitor cells. Deletion of Ovol1 in mice leads to germ cell degeneration and defective sperm production in adult males. Ovol1 has also been shown to repress itself as well as Ovol2, which is thought to regulate neural development and vascular angiogenesis during embryogenesis.

Supplier: Bioss

Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk (By similarity).

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GLT8D2 (glycosyltransferase 8 domain-containing protein 2), also known as GALA4A, is a 349 amino acid single-pass type II membrane protein. A member of the glycosyltransferase 8 family, GLT8D2 is encoded by a gene that maps to human chromosome 12q23.3. Encoding over 1,100 genes within 132 million base pairs, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12, including hypochondrogenesis, achondrogenesis, Noonan syndrome, Kniest dysplasia and trisomy 12p. Chromosome 12 is also home to a homeobox gene cluster, which encodes crucial transcription factors for morphogenesis, as well as the natural killer complex gene cluster, which encodes C-type lectin proteins that mediate the NK cell response to MHC I interaction.

Supplier: Bioss

AER61

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May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells.

Supplier: Bioss

NELL2 is a secreted glycoprotein with one N-terminal TSP-like domain, five VWFC (von Willebrand factor C) domains and six EGF-like repeats that participate in calcium binding. NELL2 exists as a homotrimer associated with the endoplasmic reticulum (ER) and is specifically expressed in neurons playing a role in calcium-dependent intracellular events. NELL2 may act as a trophic factor in addition to its role as a signaling molecule implicated in the regulation of cell growth and differentiation. Due to alternative splicing, an additional NELL2 isoform exists that is identical to full length NELL2 except that it lacks the signal peptide that directs secretion. The additional isoform is therefore retained in the cytosol and functions as a non-secreted cytoplasmic protein that interacts with PKC bI.

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SCA11 is a 1,244 amino acid protein that belongs to the protein kinase superfamily and the CK1 Ser/Thr protein kinase family. The SCA11 gene, comprising of 16 exons, produces a 5.6-kb transcript in which the longest open reading frame is 3,732 nucleotides. Defects in the SCA11 protein are the cause of the disorder spinocerebellar ataxia type 11 (SCA11). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. The SCA11 disorder is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder. The SCA11 protein has also been implicated in Alzheimer disease and in tangle formation. Existing as three alternatively spliced isoforms, the SCA11 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 15q15.2.

Supplier: Bioss

PIBF is synthesized during pregnancy in response to progesterone by progesterone receptor-positive T lymphocytes (mostly gamma-delta T cells). In the presence of PIBF, natural killer (NK) cells inhibit the release of perforin from storage granules and therefore fail to lyse target cells. In humans, the amount of cells that express PIBF is significantly higher in healthy pregnant women than in women at risk for premature pregnancy termination. Full-length PIBF is associated with the nucleus, whereas secretion of shorter forms is induced by activation of the cell. Research suggests that PIBF functions as a transcription factor in its full-length form, while smaller forms may act as cytokines. The PIBF gene encodes a deduced hydrophilic 757-amino acid alpha-helical protein with an N-terminal signal sequence, a leucine zipper motif, a basic zipper sequence, a PEST sequence, a nuclear localization signal, an endoplasmic reticulum membrane retention signal, and many presumeed N-glycosylation and phosphorylation sites.

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Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation.Tissue specificity:Expressed most abundantly in ovary and, at lower levels, in prostate, spleen and testis. Weak expression, if any, in thymus, small intestine, colon and peripheral blood leukocytes.

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Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively. Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3. AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160. Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A. Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm. In response to stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph), leading to promote transcription. Acts as a key regulator of cell growth and proliferation by phosphorylating TSC2, RPTOR and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2.

Supplier: Bioss

This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity).

Supplier: Bioss

MTP18 (Mitochondrial protein 18 kDa) is a downstream target of the phosphatidylinositol 3-kinase signaling pathway and is essential for cell viability. It may have a role in maintaining the integrity of the mitochondrial network. Loss of function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis.

Supplier: Bioss

Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle.

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RNF113A is a novel gene whose function cannot directly be inferred from it's sequence analysis. Ring finger proteins have a role in signalling the destruction of a range of heterologous protein substrates. They are small zinc binding domains present within arrays of larger, functionally distinct proteins, often close to the amino or carboxyl termini. RNF113A is a ubiquitously expressed protein that contains a RING type zinc finger and a C3H1 type zinc finger.

Supplier: Bioss

CHCHD6

Supplier: Bioss

Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization. In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth.

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C5orf45 is a 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. The C5orf45 gene product has been provisionally designated C5orf45 pending further characterization.

Supplier: Bioss

C3IP1

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This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar2009].

Supplier: Bioss

a-Fodrin is a universally expressed membrane associated cytoskeletal protein consisting of alpha and beta subunits. The protein is important for maintaining normal membrane structure and supporting cell surface protein function. Alpha Fodrin is one of the important targets cleaved by caspases during apoptosis. The full length 240 kDa protein can be cleaved at several sites within its sequence by activated caspases generating N terminal 150 kDa, C terminal 120 kDa, and 35 kDa major products. Cleavage of alpha Fodrin leads to membrane malfunction and cell shrinkage.

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RFPL4B contains 1 B30.2/SPRY domain and 1 RING type zinc finger. The function of RFPL4B remains unknown.

Supplier: Bioss

APXL is a 1,616 amino acid protein that localizes to a variety of locations within the cell, including the cytoplasm, the cytoskeleton, the cell junction and the apical cell membrane. Containing one ASD1 domain, one ASD2 domain and one PDZ domain, APXL interacts with F-Actin and is thought to mediate endothelial cell morphology during cell spreading, possibly regulating melanosome biogenesis and inducing γ Tubulin redistribution. APXL is expressed in kidney, brain, lung, pancreas and placenta and is overexpressed in melanomas, suggesting a role in tumor transformation and metastasis. The gene encoding APXL maps to human chromosome X, which contains nearly 153 million base pairs and houses over 1,000 genes. In conjunction with chromosome Y, chromosome X is responsible for sex determination. There are a number of conditions related to an abnormal number and combination of sex chromosomes, some of which include Turner's syndrome, color blindness, hemophilia and Duchenne muscular dystrophy.