118486 Results for: "Butelki+i+butle&pageNo=30"

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The Eph family of receptors comprises the largest known family of receptor tyrosine kinases. Ligands of Eph family receptors are structurally related membrane bound proteins that can be subdivided into two major subclasses, ephrin A and ephrin B. Expression of Eph receptors is tissue specific and appears to be tied to developmental events. Ligands in the ephrin A subclass, including the prototype family member ephrin A1 (B61), are membrane associated through glycosylphosphatidyl inositol linkages, whereas ephrin B subclass consists of ligands with transmembrane domains. The general role of the Eph family is in mediating repulsive cell-cell interaction.

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RIMS-binding proteins (RIM-BPs) serve as adaptors during vesicle fusion and release by forming links between synaptic-vesicle fusion apparatuses and calcium channels. Specifically, RIM-BP2 (RIMS binding protein 2), also known as RBP2, is a 1,052 amino acid protein that links L-type Ca++ CP Alpha1D, N-type Ca++ CP Alpha1B, Rim1 and Rim2 during synaptic transmission. RIM-BP2 contains three fibronectin type-III domains and three SH3 domains, which are used to mediate binding to a proline-rich motifs. Existing as three alternatively spliced isoforms, RIM-BP2 is encoded by a gene that maps to human chromosome 12q24.33 and mouse chromosome 5 G1.3.

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Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localises to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI).

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This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].

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Lingo-4 is a 593 amino acid single-pass type I membrane protein that contains eleven LRR (leucine-rich) repeats, one Ig-like C2-type (immunoglobulin-like) domain, one LRRCT domain and one LRRNT domain. The gene that encodes Lingo-4 consists of approximately 5,891 bases and maps to human chromosome 1q21.3. Comprising nearly 8% of the human genome, chromosome 1 spans 260 million base pairs, contains over 3,000 genes and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.

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Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA.

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf34 gene product has been provisionally designated C7orf34 pending further characterisation.

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Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells.

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Calcyon is a single transmembrane protein that interacts with D1 dopamine receptors. Dopamine is a neurotransmitter that regulates synaptic transmission involved in learning and memory. D1 receptors, the most abundant dopamine receptor in the central nervous system, appear to modulate the activity of D2 dopamine receptors, mediate various behavioural responses, and regulate neuron growth and differentiation. Calcyon is present in neuronal cell bodies and processes of the cortex and hippocampus, and it is especially abundant in pyramidal neurons. Interaction of Calcyon with D1 receptors results in a release of intracellular calcium.

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Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B and C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. Members of the ASB family include ASB-1 through ASB-18 and are involved in a variety of biological processes. ASB-17 is a 295 amino acid member of this family. ASB-17 contains one ankyrin repeat and one SOCS box domain. ASB-17 is thought to be a substrate-recognition subunit of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin protein ligase complex. This complex mediates the ubiquitination of target proteins and their subsequent proteasomal degradation.

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Mapping to chromosome 21, the FASP1 gene (FAPP1-associated protein 1) encodes a 233 amino acid protein that is homologous to the fission yeast protein Mis18. In yeast, Mis18 is localized to the centrosome and forms a complex with Mis16 to maintain the deacetylated state of histones specifically in the central core of centromeres. FASP1, also known as Protein Mis18-alpha and C21orf45, is required for the recruitment of CENP-A to centrosomes and is thereby essential for normal chromosome segregation during mitosis. With expression in testis, FASP1 exists as a homodimer, a heterodimer with MIS18B or is present in a complex containing other Mis18 family members. FASP1 has been shown to bind to pp5644 in Hela cells, where overexpression of pp5644 leads to inhibited growth and colony formation.

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Acute phase-regulated receptor involved in clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages and may thereby protect tissues from free hemoglobin-mediated oxidative damage. May play a role in the uptake and recycling of iron, via endocytosis of hemoglobin/haptoglobin and subsequent breakdown of heme. Binds hemoglobin/haptoglobin complexes in a calcium-dependent and pH-dependent manner. Exhibits a higher affinity for complexes of hemoglobin and multimeric haptoglobin of HP*1F phenotype than for complexes of hemoglobin and dimeric haptoglobin of HP*1S phenotype. Induces a cascade of intracellular signals that involves tyrosine kinase-dependent calcium mobilization, inositol triphosphate production and secretion of IL6 and CSF1. Isoform 3 exhibits the higher capacity for ligand endocytosis and the more pronounced surface expression when expressed in cells. After shedding, the soluble form (sCD163) may play an anti-inflammatory role, and may be a valuable diagnostic parameter for monitoring macrophage activation in inflammatory conditions.

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Increase in fetal surfactant synthesis and lung maturity is caused by the glucocorticoidal induction of enzymes required for phosphatidylcholine synthesis towards the end of gestation (1). The regulation of gestational age-dependent induction of phosphatidylcholine synthesis by glucocorticoids is still unclear (1). The rate-controlling enzyme in the phosphatidylcholine biosynthetic pathway is CTP-phosphocholine cytidylyltransferase A (CCT A) (2–4). In cultured eukaryotic cells, this enzyme is essential for survival (3). The alpha isoform is located in the nucleus and is regulated by reversible phosphorylation and membrane association (3). There is significant identity between the alpha-helical membrane-binding domains of CCT A and soybean oleosin (2). Expressed CCT A has lipid-dependent cytidylyltransferase activity (5). The gene which encodes CCT A maps to human chromosome 3q (4).

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Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor.

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C20orf186

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Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion.

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf173 gene product has been provisionally designated C20orf173 pending further characterization.

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Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. Appears to operate in a calcium-independent manner. Isoform B is a putative inhibitory receptor. Isoform A may be its activating counterpart.

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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 RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. ZNRF1 (zinc and ring finger 1), also known as NIN283, is a 227 amino acid protein that contains one RING-type zinc finger and localizes to the lysosome and the endosome, as well as to cytoplasmic vesicles and the peripheral membrane. Expressed primarily in nervous system tissue, but also present in testis and thymus, ZNRF1 functions as an E3 ubiquitin-protein ligase that is thought to play a role in the establishment and maintenance of neuronal plasticity. Multiple isoforms of ZNRF1 exist due to alternative splicing events.

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AKT, also known as protein kinase B (PKB), is a 57 kDa serine/threonine protein kinase. There are three mammalian isoforms of Akt: AKT1 (PKB alpha), AKT2 (PKB beta) and AKT3 (PKB gamma) with AKT2 and AKT3 being approximately 82% identical with the AKT1 isoform. Each isoform has a pleckstrin homology (PH)domain, a kinase domain and a carboxy terminal regulatory domain. AKT was originally cloned from the retrovirus AKT8, and is a key regulator of many signal transduction pathways. Its tight control over cell proliferation and cell viability are manifold; overexpression or inappropriate activation of AKT has been seen in many types of cancer. AKT mediates many of the downstream events of phosphatidylinositol 3 kinase (a lipid kinase activated by growth factors, cytokines and insulin). PI3 kinase recruits AKT to the membrane, where it is activated by PDK1 phosphorylation. Once phosphorylated, AKT dissociates from the membrane and phosphorylates targets in the cytoplasm and the cell nucleus.

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Apolipoproteins are protein components of plasma lipoproteins (1). The apolipoprotein L gene family encodes six highly homologous proteins designated apoL-I to -VI, which are associated with large high density type lipoproteins (HDL) (2,3). The human apoL family maps to chromosome 22q12.1-13.1 within a 127,000-bp region (4). ApoL has been characterized as a pancreas specific, 383-amino acid protein that contains a 12-amino acid secretory signal peptide (4). The apoL genes have TATA-less promoters and contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol (3). ApoL homologs can undergo 10 fold changes in expression during atherosclerotic changes in vascular endothelial cells, which includes the inflammatory reaction of atherosclerotic lesions (5).

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Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008].

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The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012]

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CCT2 is one of eight largely unrelated subunit proteins found in a protein chaperone complex known as the chaperonin-containing TCP-1 (CCT) or TRiC complex. The CCT complex is an abundanct cytoslic component that is credited with helping newly synthesized polypeptides adopt the correct conformation (1). Proteins that fold and assemble with the help of CCT include the cytoskeletal proteins actin and tubulin as well as up to 15% of newly synthesized eukaryotic proteins (2). CCT2 is the β-subunit of the chaperone complex and is one of several CCT proteins that exhibit increased expression in response to stress. This implies that the CCT complex helps cells recover from protein damage by assisting in protein folding and assembly (3). CCT subunit levels also change throughout the cell cycle, with lower proteins levels (and reduced chaperone activity) found during induced cell cycle arrest during at M phase (4). Each CCT subunit is thought to perform a specific function during protein folding and assembly (5); CCT2 exhibits both actin and tubulin binding activities (6,3) but the exact molecular function on this subunit remains uncertain.

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TXNDC5 is a protein-disulfide isomerase. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. ERp19 and ERp46 are two newly discovered ER luminal proteins, related to protein disulphide isomerase. Western and Northern blot analyses have revealed that both ERp19 and ERp46 and their respective mRNAs are highly expressed in the liver as compared with other tissues. Both proteins are enriched in purified liver ER vesicles and were localized specifically to the ER in McA-RH7777 hepatocytes. See Knoblach et al. for details.

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HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions.

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Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

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Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.

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Clathrin-coated pits and vesicles are assembled for receptor-mediated endocytosis through interaction with Clathrin associated protein complexes. Vesicle transport is mediated from the trans-Golgi network by the adapter complex AP-1 and from the plasma membrane by the AP-2 complex. The AP-1 and AP-2 adapter protein complexes consist of Clathrin binding Adaptin proteins (g and b1 for AP-1, a and b2 for AP-2) and two smaller subunits known as AP50 and AP17. The a and b Adaptin chains have a similar two-domain organization with C-terminal domains that vary in both sequence and length. a-Adaptin splice variants A and C display variable relative expression levels and differential distribution in different tissues. AP-3 (also designated AP180 or F1-20) is a synapse-specific Clathrin assembly protein. The protein CALM (Clathrin assembly protein lymphoid myeloid leukemia) is highly homologous to AP180 and may also be involved in Clathrin assembly.

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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 C6orf57 gene product has been provisionally designated C6orf57 pending further characterisation.