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Description:
Glucosamine 6-phosphate N-acetyltransferase (GNA1), also designated phosphoglucosamine transacetylase or phosphoglucosamine acetylase, belongs to the GNA1 subfamily of the larger acetyltransferase family of proteins. GNA1, a peripheral membrane protein containing one N-acetyltransferase domain, is expressed in the colon and maps to cytoband 14q22.1. The protein localizes to the Golgi apparatus and the endosome. It is important for UDP-GlcNAc biosynthesis pathway. GNA1 catalyzes the synthesis of GlcNAc6P from AcCoA and GlcN6P, a step in the UDP-GlcNAc6P formation pathway.
Description:
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].
Description:
Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix.
Description:
VAV2 is a ubiquitously expressed structural homolog of the VAV protooncogene that is expressed preferentially in hematopoetic cells. Both proteins are comprised of a Dbl homology (DH) domain with guanosine nucleotide exchange (GEF) activity exclusively directed towards Rho/Rac GTPases, a pleckstrin homology (PH) domain, a calponin-homology (CH) region, an acidic domain (AD) a zinc finger butterfly motif, two SH3 regions and one SH2 domain. GEF activity of RhoA family G proteins is induced by tyrosine phosphorylation in wild type VAV2, and is constitutively activated in N terminus deleted oncogene forms. Constitutive expression of a VAV2 oncoprotein may result in morphological alterations including highly enlarged cells in which karyokinesis and cytokinesis frequently are uncoupled.
Description:
This protein is part of the THO complex (THOC). The THO complex is recruited to transcribed genes and travels with the RNA polymerase during elongation. It may physically link proteins that function in transcription and in RNA export and RNA processing.
Description:
This protein is part of the THO complex (THOC). The THO complex is recruited to transcribed genes and travels with the RNA polymerase during elongation. It may physically link proteins that function in transcription and in RNA export and RNA processing.
Description:
HHV8 has been found to be associated with three different diseases observed in AIDS patients; kaposi's sarcoma, primary effusion lymphoma (which is a rare type of non-Hodgkin lymphoma affecting the body cavities) and multicentric Castleman's disease. To date there is much evidence to support a direct role for HHV8 in kaposi's sarcoma.
Description:
May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake.
Description:
This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor.
Description:
The Golgi apparatus consists of a series of stacked, flattened membrane stacks called cisternae that are involved in the transport of lipids and proteins in the secretory pathway and are important for Golgi-microtubule interaction. Golgin 160 is a 1,498 amino acid protein that localizes to both the cytoplasm and to the Golgi apparatus and contains a series of coiled-coil domains. Expressed in a variety of tissues, including heart, liver, testis, kidney, lung and salivary gland, golgin 160 functions as a homodimer that interacts with GOLGA7 and is thought to be involved in maintaining Golgi structure and may play a role in nuclear transport and Golgi apparatus localization. Multiple isoforms of golgin 160 exist due to alternative splicing events.
Description:
This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. The protein encoded by this gene is highly expressed in leukocytes, but its exact function is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Description:
The regulators of G protein signaling (RGS) proteins inhibit heterotrimeric G protein signaling. RGS proteins work by functioning as GTPase-activators (which increase the GTPase activity of G protein a-subunits) thereby driving G proteins into their inactive GDP-bound form. RGS21 (regulator of G-protein signaling 21) is a 152 amino acid protein that is ubiquitously expressed and contains one RGS domain. The gene encoding RGS21 maps to human chromosome 1q31.2 and mouse chromosome 1 F. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome 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.
Description:
Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity).
Description:
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.
Description:
Members of the RTP (receptor transporter proteins) family have recently been discovered to influence bitter taste receptor expression in addition to inducing the expression of mammalian odorant receptors. RTP3 is a 232 amino acid single-pass type III membrane protein belonging to the TMEM7 family. Unlike other RTP proteins, RTP3 is not expressed in olfactory neurons but is expressed predominantly in liver. RTP3 is involved in the functional expression of bitter taste receptors and suppresses cell proliferation, and is also found in human circumvallate papillae and testis (regions where bitter taste receptors are expressed). The gene encoding RTP3 maps to human chromosome 3p21.31 within C3CER1 (chromosome 3 common eliminated region 1), which is frequently eliminated in chromosomal deletions of solid tumors.
Description:
Transcription regulator of hematopoietic cell differentiation. Binds gamma-satellite DNA. Binds with higher affinity to gamma satellite A. Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (terminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs).Tissue specificity:Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine.
UOM:
1 * 100 µl
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,BOSSBS-8172R-CY5.5EA
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