54835 Results for: "Markery,+d\u0142ugopisy+i+grawery&pageNo=48"

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This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012].

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Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

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Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008].

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The synaptogyrin family of proteins are integral membrane proteins containing four transmembrane regions. Synaptogyrins are tyrosine-phosphorylated proteins with two neuronal (Synaptogyrins 1 and 3) and one ubiquitous (Synaptogyrin-2) isoform. Synaptophysin and synaptogyrin represent the major constituents of synaptic vesicles. The 26kDa protein Synaptogyrin-1 is associated with presynaptic vesicles in neuronal cells. Synaptogyrin-2, also known as Cellugyrin has a tyrosine phosphorylated C-terminal cytoplasmic tail, and is involved in the regulation of membrane traffic in non-neuronal cells. Synaptogyrin-3 is expressed mainly in brain and placenta. The SYNGR4 gene encodes for the 234 amino acid protein Synaptogyrin-4.

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CYP51A1 is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyse many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalysing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene.

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Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. [provided by RefSeq, Jul 2008].

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PCNP

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Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation.

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PBGD, also designated hydroxymethylbilane synthase, is a cytoplasmic enzyme found in the heme synthesis pathway. PBGD belongs to the HMBS (hydroxymethylbilane synthase) family. Deficiency of PBGD causes errors in pyrrole metabolism, which in turn leads to an inherited autosomal disorder called acute intermittent porphyria (AIP). AIP is characterized by acute attacks of neurological dysfunctions with hypertension, tachycardia, peripheral neurologic disturbances, abdominal pain and excessive amounts of aminolevulinic acid and porphobilinogen in the urine.

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The single-stranded-DNA-binding proteins (SSBs) are essential for DNA function in prokaryotic and eukaryotic cells, mitochondria, phages and viruses. Replication protein A (RPA), a highly conserved eukaryotic protein, is a heterotrimeric SSB. RPA plays an important role in DNA replication, recombination and repair. The binding of human RPA (hRPA) to DNA involves molecular polarity in which initial hRPA binding occurs on the 5' side of an ssDNA substrate and then extends in the 3' direction to create a stably bound hRPA. RPA is a major damage-recognition protein involved in the early stages of nucleotide excision repair. It can also play a role in telomere maintenance. The RPA 70 kDa subunit binds to ssDNA and mediates interactions with many cellular and viral proteins. The DNA binding domain lies in the middle of RPA 70 kDa subunit and comprises two structurally homologous subdomains oriented in tandem. RPA contains a conserved four cysteine-type zinc-finger motif, which mediates the transition of RPA-ssDNA interaction to a stable RPA-ssDNA complex in a redox-dependent manner.

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Provides the precursors necessary for DNA synthesis. catalyses the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.

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Septin 14, also known as SEPT14, is a 432 amino acid protein that belongs to the septin family. The highly conserved septin family of GTP-binding cytoskeletal proteins is implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis and other cellular functions. Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. Septin 14 has a GTPase domain followed by a C-terminal coiled-coil domain characteristic of group II septins. Septin 14 interacted with all septins except those that are members of its phylogenetic cluster, including itself. Septin 14 shares highest identity (67%) with Septin 10. Expressed in testis and more weakly in fetal liver, tonsil and thymus, the Septin 14 protein is not detected in testicular cancer or other normal or cancer cell lines. The Septin 14 gene is conserved in chimpanzee, dog, cow, mouse and rat, and maps to human chromosome 7p11.2.

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E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2 through proteasomal degradation. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus. GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins.

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The Zyxin family of proteins contains five members: Ajuba, Limd1, LPP, TRIP6 and Zyxin. Limd1 (LIM domain-containing protein 1) is a ubiquitously expressed tumor suppressor containing 3 LIM zinc-binding domains. LIM domains consist of a cysteine-rich consensus sequence containing two distinct zinc-binding subdomains, which mediate protein-protein interactions. Limd1 interacts with the proteins SQSTM1, Rb, p62 and TRAF6. Limd1 was first identified when the deletion of its gene was noted in some cervical cancers. Limd1 blocks in vitro and in vivo tumor growth and is down-regulated in lung cancer. Limd1 may regulate osteoclast development under stressful conditions via its interactions with TRAF6 and p62.

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Unrip is part of the SMN complex that plays a role in snRNP assembly in the cytoplasm and pre mRNA splicing in the nucleus. Unrip interacts directly with Gemin 6 and Gemin 7 in the SMN complex. It is associated with the complex in the cytoplasm but not in the nucleus and thus is thought to play a role in it's subcellular localisation.It is a ubiquitously expressed protein that acts as an inhibitor of TGF-beta signaling and an important regulator of cell proliferation. Stable expression of STRAP results in activation of the mitogen-activated protein kinase/extracellular signal-regulated kinase pathway and in down-regulation of the cyclin-dependent kinase inhibitor p21 (Cip1), which results in retinoblastoma protein hyperphosphorylation. Upregulation of STRAP might play a role in tumor development as an early event for colorectal cancers. It is the first component of the U snRNP assembly machinery that associates with SMN complex in a compartment-specific way and plays a crucial role in the intracellular distribution of SMN1.

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Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF704 is a 412 amino acid nuclear protein that contains one C2H2-type zinc finger. The gene encoding ZNF704 maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

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The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009].

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4E-BP2; 4EBP2; eIF4E binding protein 2; eIF4E-binding protein 2; Eif4ebp2; Eukaryotic translation initiation factor 4E binding protein 1; Eukaryotic translation initiation factor 4E-binding protein 2; PHASII.

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Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione.

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Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane.

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Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) . EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement.

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Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3'. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Acts synergistically with ATF4 to suppress osteocalcin/BGLAP activity, increasing glucose levels and triggering glucose intolerance and insulin insensitivity. Also suppresses the transcriptional activity of RUNX2, an upstream activator of osteocalcin/BGLAP. In hepatocytes, promotes gluconeogenesis by acting together with PPARGC1A and CEBPA to activate the expression of genes such as IGFBP1, G6PC and PCK1. Important regulator of cell death acting downstream of CDK1, PKB/AKT1 and SKT4/MST1. Promotes neural cell death. Mediates insulin action on adipose tissue. Regulates the expression of adipogenic genes such as PPARG during preadipocyte differentiation and, adipocyte size and adipose tissue-specific gene expression in response to excessive calorie intake. Regulates the transcriptional activity of GADD45A and repair of nitric oxide-damaged DNA in beta-cells. Required for the autophagic cell death induction in response to starvation or oxidative stress in a transcription-independent manner.

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Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008].

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Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation.

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Membrane-associated guanylate kinase (MAGUK) family members function as molecular scaffolds for the assembly of multiprotein complexes localizing to the plasma membrane. Several mammalian proteins related to the Drosophila tumor suppressor discs-large (dlg) gene product belong to the MAGUK family. MAGUK family members include the postsynaptic proteins PSD-93, DLG5, Pals1, PSD-95 (SAP 90), densin-180, NE-dlg (SAP 120), dlg-1 (SAP 97), GKAP (GK-associated protein), p55, the tight junction associated proteins ZO-1-3 and the caspase-associated recruitment domain (CARD) proteins CARD6, CARD8-12 and CARD14. DLG5, a cell-cell junction peripheral membrane protein, plays an important role in maintaining the structure of epithelial cell plasma membranes. It also plays an important part in transmitting extracellular signals to the cytoskeleton and the membrane. DLG5 which can interact with MPP1 and CTNNB1, is primarily expressed in prostate and placenta.

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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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Growth/differentiation factors (GDFs) are members of the TGF superfamily (1,2). Members of the TGF superfamily are involved in embryonic development and adult tissue homeostasis (1). GDF-1 expression is almost exclusively restricted to the central nervous system and mediates cell differentiation events during embryonic development (3). Neither GDF-3 (Vgr-2) nor GDF-9 contains the conserved cysteine residue which is found in most other TGF superfamily members. GDF-3 is detectable in bone marrow, spleen, thymus and adipose tissue, whereas GDF-9 has only been detected in ovary (4). GDF-5 (also designated CDMP-1) has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. (5). GDF-5 mutations have been identified in mice with the mutation brachypodism (bp), a mutation which affects the length and number of bones in limbs (6). GDF-6 and GDF-7 are closely related to GDF-5 (6). GDF-8 has been shown to be a negative regulator of skeletal muscle mass (1).

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Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.

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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 C1orf114 gene product has been provisionally designated C1orf114 pending further characterization.

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May be involved in transcriptional regulation.