56517 Results for: "Bioss"

Supplier: Bioss

DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation.

Supplier: Bioss

Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface.

Supplier: Bioss

OVCA1 is required for the first step in the synthesis of diphthamide, a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. OVCA1 is one of several enzymes involved in synthesis of diphthamide in EEF2.

Supplier: Bioss

Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties.

Supplier: Bioss

DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation.

Supplier: Bioss

Promotes cell adhesion and matrix assembly.Tissue specificity: Expressed in dermal papilla and dermal fibroblasts (at protein level). Expressed in heart, thymus, placenta, pancreas, colon, epithelium, spleen and osteoblasts.

Supplier: Bioss

SYAP1 (synapse-associated protein 1) is a 352 amino acid protein that is ubiquitously expressed in adult tissues. SYAP1 contains one BSD domain which is a novel domain that is present in basal transcription factors, synapse-associated proteins and several hypothetical proteins. The BSD domain is characterized by three predicted alpha helices and by conserved tryptophan and phenylalanine residues, located at the C-terminus of the domain. The gene that encodes SYAP1 in humans is located on chromosome X. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.

Supplier: Bioss

Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene, which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (originally Dyrk), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Two isoforms of human fetal brain Dyrk2 exist: a deduced 528-amino acid protein and a protein containing 73 additional amino acids at the amino terminus. Dyrk3 is strongly expressed in testis, only after the onset of spermatogenesis, and very weakly expressed in spleen and adrenal gland. The genes which encode Dyrk2 and Dyrk3 map to human chromosomes 12 and 1q32, respectively.

Supplier: Bioss

Severe acute respiratory syndrome (SARS) is a viral respiratory illness caused by a coronavirus, called SARS-associated coronavirus (SARS-CoV). Human coronaviruses (HCoVs) were previously only associated with mild diseases. The SARS-CoV genome contains five major open reading frames (ORFs) that encode the replicase polyprotein; the spike (S), envelope (E), and membrane (M) glycoproteins; and the nucleocapsid protein (N).

Supplier: Bioss

Serine-threonine kinase which transduces inflammatory and cell-death signals (programmed necrosis) following death receptors ligation, activation of pathogen recognition receptors (PRRs), and DNA damage. Upon activation of TNFR1 by the TNF-alpha family cytokines, TRADD and TRAF2 are recruited to the receptor. Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade. Ubiquitination by TRAF2 via 'Lys-63'-link chains acts as a critical enhancer of communication with downstream signal transducers in the mitogen-activated protein kinase pathway and the NF-kappa-B pathway, which in turn mediate downstream events including the activation of genes encoding inflammatory molecules. Polyubiquitinated protein binds to IKBKG/NEMO, the regulatory subunit of the IKK complex, a critical event for NF-kappa-B activation. Interaction with other cellular RHIM-containing adapters initiates gene activation and cell death. RIPK1 and RIPK3 association, in particular, forms a necrosis-inducing complex.

Supplier: Bioss

Dystrobrevin beta is a component of the dystrophin-associated protein complex and interacts with dystrophin short form DP71, syntrophins SNTG1 and SNTG2. It localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. 4 isoforms produced by alternative splicing have been identified.

Supplier: Bioss

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Ubiquitination is an important mechanism through which three classes of enzymes act in concert to target short-lived or abnormal proteins for destruction. The three classes of enzymes involved in ubiquitination are the ubiquitin-activating enzymes (E1s), the ubiquitin-conjugating enzymes (E2s) and the ubiquitin-protein ligases (E3s). MARCH9 (membrane-associated ring finger (C3HC4) 9), also known as RNF179, is a 346 amino acid multi-pass membrane protein that localizes to the golgi apparatus and contains one RING-CH-type zinc finger. Expressed ubiquitously, MARCH9 exists as a homodimer and functions as an E3 ubiquitin-protein ligase that accepts a ubiquitin residue from an E2 ubiquitin-conjugating enzyme and is thought to promote the degradation of target proteins, such as CD4 and MHC-I. Multiple isoforms of MARCH9 exist due to alternative splicing events.

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CCDC147.

Supplier: Bioss

This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined.

Supplier: Bioss

Playing a essential role in the fission of tubules that serve as transport intermediates during endosome sorting, the WASH complex is present at the surface of endosomes and functions to recruit and activate the Arp2/3 complex for induction of actin polymerization. FAM21, Putative WASH complex subunit FAM21, is a component of the WASH complex. Having undergone evolutionary duplication, four highly homologous family members exist including FAM21A, FAM21B, FAM21C and FAM21D. FAM21 links the WASH complex to endosomes and is required for WASM-dependent retromer-mediated sorting. Also, by directly interacting with CapZ, FAM21 inhibits its anti-capping activity, thereby regulating actin dynamics.

Supplier: Bioss

CCDC12, also known as FLJ39430, FLJ40801 or MGC23918, is a 166 amino acid protein encoded by a gene mapping to human chromosome 3. Chromosome 3 is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

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The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion and drug extrusion and delivery. CCDC38 (coiled-coil domain containing 38) is a 563 amino acid protein encoded by a gene that maps to human chromosome 12q23.1. Encoding over 1,100 genes, chromosome 12 comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.

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CCDC147.

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Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis.

Supplier: Bioss

May forms part of a complex of membrane proteins attached to acetylcholinesterase (AChE).Tissue specificity:Ubiquitous. Widely expressed in brain.

Supplier: Bioss

DCAKD belongs to the coaE family. It contains one DPCK (dephospho CoA kinase) domain. There are two isoforms.Coenzyme A (CoA) is an essential cofactor used in numerous biochemical pathways. It plays a critical role in the synthesis and oxidation of fatty acids and is vital to the citric acid cycle. The biosynthesis pathway of CoA from pantothenic acid (also known as vitamin B5) is essential and universal in prokaryotes and eukaryotes. In humans, the final steps of the biosynthesis pathway are carried out by the bifunctional enzyme COASY. The sequence of these enzymes are highly conserved between different bacterial species. The phosphopantetheine adenylyltransferase and decoenzyme A kinase activities of COASY are evolutionarily conserved activities. DCAKD (deCoA kinase domain containing protein) is a 231 amino acid protein that consists of a deCoA kinase domain and an ATP nucleotide binding motif. Localizing to mitochondria and the cytosol, DCAKD belongs to the coaE family which suggests that it may play a role in the biosynthesis of CoA.

Supplier: Bioss

May be involved in transcriptional regulation.

Supplier: Bioss

The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported.

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Vgl-2, also known as VITO-1, is a 317 amino acid protein that contains a domain through which it interacts with TEF-1, a protein that plays a role in controlling the expression of numerous genes. Specific to skeletal muscle, Vgl-2 is expressed highly in adult fast muscle and is expressed at lower levels in adult slow muscle and fetal skeletal muscle. During muscle differentiation, Vgl-2 mRNA levels increase and Vgl-2 translocates from the cytoplasm to the nucleus. Overexpression of Vgl-2 in MYOD-transfected 10T1/2 mouse embryonic fibroblasts increases expression of myosin heavy chain (MHC), which is a marker of terminal muscle differentiation. This evidence suggests that Vgl-2 is essential for muscle gene expression. There are two isoforms of Vgl-2 that are produced as a result of alternative splicing events.

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This gene belongs to the chemokine-like factor gene superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.

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C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

Supplier: Bioss

MARCH5 is a member of the E3 ubiquitin-protein ligase family. This mitochonrial E3 ubiquitin-protein ligase plays an importnat role in controlling the morphology of the mitochondria. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. MARCH5 has been shown to interact with MTFN2 and ubiquitinated forms of DRP1.

Supplier: Bioss

VGLL1 is a specific coactivator for the mammalian TEFs. The mammalian TEF and the Drosophila scalloped genes belong to a conserved family of transcriptional factors that possesses a TEA/ATTS DNA binding domain.

Supplier: Bioss

Schlafen family members are preferentially expressed in lymphoid tissues and are differentially regulated during thymocyte maturation. Schlafen proteins function as suppressors of cell growth and are thought to play a role in the maintenance of T cell quiescence. The prototype member of the Schlafen family, Slfn1, is transcriptionally unregulated during thymocyte positive selection, and the induction of Slfn1 induces a G0/G1 arrest, suggesting that Slfn1 participates in the regulation of cell cycle and potentially acts as a determining factor for apoptosis. These proteins all contain a largely conserved core domain within the center of the sequence, and yet they are substantially diversified at the N terminus. Slfn14 (Schlafen family member 14) is a 912 amino acid protein belonging to the Schlafen family. Slfn14 exists as two alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 17q12.