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

Supplier: Bioss

C4orf3

Supplier: Bioss

ABIN-3 is a member of the A20-binding inhibitor of NF-kappaB activation (ABIN) protein family. Similar to the previously characterized human ABINs (ABIN-1 and ABIN-2), ABIN-3 can bind to A20 and inhibit NF-kappaB activation. In contrast, mouse ABIN-3 is incapable of inhibiting NF-kappaB activation by proinflammatory stimuli because the protein lacks a complete ABIN homology domain, which is required for the funcitonal activity of human ABIN-3.

Supplier: Bioss

May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. SLITRK3 (SLIT and NTRK-like family, member 3) is a 977 amino acid single-pass type I membrane protein that contains 20 LRR repeats and belongs to the SLITRK family. Expressed at highest levels in cerebral cortex, SLITRK3 is also found in adult and fetal neural tissues and some astrocytic brain tumors. SLITRK3 functions to suppress neurite outgrowth and plays a role in the regulation of neuronal function. SLITRK3 is encoded by a gene that maps to human chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci.

Supplier: Bioss

Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.

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Leupaxin is a 386 amino acid cytoplasmic protein and member of the paxillin family. Leupaxin is highly expressed in lymphoid tissues such as spleen, lymph node, thymus and appendix, with low expression in bone marrow and fetal liver. Consisting of four leucine-rich LD-motifs at the N-terminus and four LIM domains at the C-terminus, leupaxin associates with a member of the focal adhesion kinase family, PYK2, in lymphoid cells. The leupaxin and PYK2 complex is involved in cell type-specific signaling in which it regulates signaling at sites of adhesion. Leupaxin is a substrate for tyrosine kinase in lymphoid cells and is suggested to participate in and be regulated by tyrosine kinase activity. Leupaxin may be a potential progression marker for a subset of prostate cancer and may act as a novel coactivator of the androgen receptor.

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The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].

Supplier: Bioss

P2Y purinoceptor 11 (P2Y11) is a 374 amino acid protein belonging to the G-protein coupled receptor one family. P2Y11 is a multi-pass cell membrane protein that acts as a receptor for both ATP and ATD coupled to G proteins. Due to these interactions, P2Y11 is involved in phosphatidylinositol-calcium and adenylyl cyclase pathways. Induced by DMSO and retinoic acid, P2Y11 is highly expressed in spleen tissue. A putative trans-splicing event involving the gene that encodes P2Y11 and an upstream gene encoding PPAN has been found to result in a fusion protein, designated PPAN-P2RY11.

Supplier: Bioss

May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.

Supplier: Bioss

Connexin 29 belongs to the connexin family and is a member of the epsilon-type subfamily. Connexin 29 is a membrane bound, multi-pass protein also known as gap junction epsilon-1 protein. A connexon, consisting of connexin hexamers, is a membrane bound structure that is integral in the formation of a gap junction. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low molecular weight diffuse from one cell to a neighboring cell. Connexin 29 expression is restricted to the central nervous system and is present in brain, spinal cord, and sciatic nerve samples. It has been suggested that connexin 29 in the mature CNS contributes minimally to gap junctional intercellular communication in oligodendrocyte cell bodies. Rather, connexin 29 is targeted to myelin where it, along with connexin 32, may contribute to connexin-mediated communication between adjacent layers of uncompacted myelin.

Supplier: Bioss

Integrin alpha-6/beta-4 is a receptor for laminin. It plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility (By similarity).

Supplier: Bioss

AADACL3 is a 350 amino acid protein that belongs to the 'GDXG' lipolytic enzyme family and participates in hydrolase activity. Existing as two alternatively spliced isoforms, AADACL3 is encoded by a gene that maps to human chromosome 1p36.21. Chromosome 1, the largest human chromosome, makes up 8% of the human genome and contains about 260 million base pairs, which encode 3,000 genes. Chromosome 1 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. 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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Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. Required for NXF1 localization to the nuclear rim.

Supplier: Bioss

Insulin receptor substrates (IRS) are responsible for several insulin related activities, such as glucose homeostasis, cell growth, cell transformation, apoptosis and insulin signal transduction. Serine/threonine phosphorylation of IRS1 has been demonstrated to be a negative regulator of insulin signaling and is responsible for its degradation, although IRS1 degradation pathways are not well understood. IRS1 has also been shown to be constitutively activated in cancers such as breast cancer, Wilm's tumors, and adrenal cortical carcinomas, thus making IRS1 phosphorylation and subsequent degradation an attractive therapeutic target. To date there have been four subtypes identified: IRS1, 2, 3 and 4, with IRS1 being widely expressed.

Supplier: Bioss

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 C1orf53 gene product has been provisionally designated C1orf53 pending further characterization.

Supplier: Bioss

YAP1 (also known as Yes associated protein 1) was originally identified as a transcription factor that binds to the SH3 domain of the YES kinase (a Src protein kinase). More recently it has been identified as a candidate oncogene that promotes tumorigenesis in many different types of cancer.

Supplier: Bioss

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, ZNF532 is a 1301 amino acid nuclear protein that contains twelve C2H2-type zinc fingers. The gene encoding ZNF532 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases, representing about 2.5% of total DNA in cells. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.

Supplier: Bioss

Regulates eIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways.

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The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

Supplier: Bioss

Hemangioblast MarkerVascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009].

Supplier: Bioss

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. There have been at least 12 different PKC isoforms identified in humans to date including alpha, beta I, beta II, gamma, delta, epsilon, zeta, eta, theta, iota, lambda, and mu. PKC gamma is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14).

Supplier: Bioss

Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes.

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The sense of taste is essential for the survival of organisms. For example, the ability to identify sweet-tasting foods enables animals to seek out food with high nutritive value, whereas the ability to identify bitter substances enables them to avoid the ingestion of potentially harmful substances. A family of integral membrane proteins are involved in taste perception and include T1R, which is involved in sweet taste perception and T2R, which is involved in bitter taste perception. Both types of taste receptors couple to various G proteins to initiate signal transduction cascades. Specifically, T2R50 is expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells.

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The PHEX a 749 amino acid protein that putatively consists of an intracellular, transmembrane and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. The PHEX protein, which is a single-pass membrane protein, is also designated HYP, X-linked hypophosphatemia protein or metalloendopeptidase homolog PEX. PHEX plays an active role in bone and dentin mineralization and renal phosphate re-absorption. X-linked hypophosphatemic rickets, also designated HYP, is an X-linked dominant disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood.

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No data available.

Supplier: Bioss

NDUFA10 protein belongs to the complex I 42kDa subunit family. Mammalian complex I is the first enzyme complex in the electron transport chain of mitochondria. It is composed of 45 different subunits. This protein is a component of the hydrophobic protein fraction and has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain.

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Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal.

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The long terminal repeat binding protein-1 (LBP-1) mammalian family of transcription factors are proteins that stimulate transcription in HeLa cells from the major late promoter of simian virus 40 in vitro. The two related human LBP-1 genes are TFCP2A, which encodes the alternatively spliced transcripts LBP-1a and LBP-1b, and TFCP2C, which encodes LBP-1c and LBP-1d. LBP-9, also designated transcription factor CP2-like 1 (TFCP2L1), is a protein of 479 amino acids. LBP-9 shows 83% sequence homology with LBP-1b and acts as a suppressor factor inhibiting the stimulation effect of LBP-1b. LBP-9 may regulate the P450scc reporter activity through the -155/-131 element.

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This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].

Supplier: Bioss

The Src family of protein tyrosine kinases (Src-PTKs) is important in the regulation of growth and differentiation of eukaryotic cells. The activity of Src-PTKs in cells of different types is negatively controlled by Csk. Csk binding protein (Cbp), also designated phosphoprotein associated with glycosphingo-lipid-enriched microdomains (GEMs) or PAG, is a ubiquitously expressed transmembrane phosphoprotein that binds specifically to the SH2 domain of Csk. Cbp is involved in the membrane localization of Csk and in Csk-mediated inhibition of c-Src. In the plasma membrane, Cbp is exclusively localized in the GM1 ganglioside-enriched detergent-insoluble membrane domain, which is important in receptor-mediated signaling. Cbp is a component of the regulatory mechanism controlling the activity of membrane-associated Src-PTKs.