"Bioss"

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Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis. Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression. Is involved in adipocyte differentiation. Isoform 1 is recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol.

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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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FSD2 is a 749 amino acid protein containing one B30.2/SPRY domain and two fibronectin type-III domains. The gene encoding FSD2 maps to human chromosome 15q25.2. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and consists of about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are also associated with chromosome 15.

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May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.

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Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containg non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling.

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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterised by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas.

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Human papilloma viruses (HPVs) can be classified as either high risk or low risk according to their association with cancer. HPV16 and HPV18 are the most common of the high risk group while HPV6 and HPV11 are among the low risk types. Approximately 90% of cervical cancers contain HPV DNA of the high risk types. Mutational analysis have shown that the E6 and E7 genes of the high risk HPVs are necessary and sufficient for HPV transforming function. The specific interactions of the E6 and E7 proteins with p53 and pRB, respectively, correlate with HPV high and low risk classifications. The high risk HPV E7 proteins bind to pRB with a higher affinity than do the low risk HPV proteins, and only the high risk HPV E6 proteins form detectable complexes with p53 in vitro. Human papillomaviruses (HPV) are small DNA viruses which infect epithelia of the skin and mucosa. Over 90 types have been identified and they mostly cause a variety of benign lesions such as warts and verrucae. However, some subtypes, notably types 16 and 18, 31 and 33, have been confirmed as agents which cause cervical cancer. The E6 protein is a transcriptional transactivator. Binds double-stranded DNA. This protein may be involved in the oncogenic potential of this virus (cervical neoplasia-associated virus).

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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 C1orf173 gene product has been provisionally designated C1orf173 pending further characterization. There are three isoforms of C1orf173 that are produced as a result of alternative splicing events.

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CAP2 is a identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin.

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Heterotrimeric G proteins function to relay information from cell surface receptors to intracellular effectors. Each of a very broad range of receptors specifically detects an extracellular stimulus (i.e. a photon, pheromone, odorant, hormone or neurotransmitter), while the effectors (e.g. adenyl cyclase), which act to generate one or more intracellular messengers, are less numerous. In mammals, G protein alhfa, beta and gamma polypeptides are encoded by at least 16, 4 and 7 genes, respectively. Most interest in G proteins has been focused on their a subunits, since these proteins bind and hydrolyze GTP and most obviously regulate the activity of the best studied effectors. Evidence, however, has established an important regulatory role for the beta gamma subunits. It is becoming increasingly clear that different G protein complexes expressed in different tissues carry structurally distinct members of the gamma as well as the alhfa and beta subunits, and that preferential associations between members of subunit families increase G protein functional diversity.

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The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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MARCKS, (Myristoylated Alanine-Rich C Kinase Substrate), is a member of a family of calmodulin binding proteins and is a major substrate for phosphorylation by protein kinase C (PKC). The phosphorylation of Ser152/156 can be used as a measure of PKC activation. Phosphorylation of Ser152/156 modulates the binding of MARCKS to calmodulin.

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Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1.Tissue specificity: Highly expressed in placenta, lung, kidney, pancreas and ovary. Expressed at intermediate level in thymus, testes and colon.

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Neuronal Marker The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

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Growth hormone-releasing hormone (GHRH) stimulates secretion and synthesis of growth hormone (GH), causes somatotroph proliferation and may have direct actions in fetal/placental development, reproduction and immune function. It exerts its action through high-affinity GHRH receptors present in the anterior pituitary. GSH-1 (GS homeobox 1) is a 264 amino acid hypothalamic nuclear protein that functions as a transcription factor responsible for maintaining GHRH expression as well as playing an important role in pituitary development. Coexpression of CBP leads to significantly enhanced GSH-1-induced GHRH expression, which suggest that CBP may function as a co-activator. Knockdown of GSH-1 mRNA in mice causes a dwarf phenotype, which suggests that certain cases of familial dwarfism may be caused by a mutation of the GSH-1 gene.

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Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1.Tissue specificity: Ubiquitous. Highest in testis.