40390 Results for: "2-Methoxypyrimidine-4-carbaldehyde&pageNo=68"

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. As a member of the Kr_ppel C2H2-type zinc-finger protein family, ZNF323 (zinc finger protein 323) is a 406 amino acid protein containing six C2H2-type zinc fingers and one SCAN box domain. Specifically, C2H2-type zinc fingers function to bind DNA, while SCAN box domains are thought to participate in protein-protein interactions. Therefore, it is probable that ZNF323 functions as a transcription factor. With highest expression in kidney, liver and lung and weaker expression in brain, heart, intestine, muscle, cholecyst and pancreas, ZNF323 is localized to the nucleus. It is also suggested that ZNF323 may play a role in the development of multiple embryonic organs.

Supplier: Bioss

PTD015 is a 122 amino acid protein that belongs to the UPF0366 family. Existing as three alternatively spliced isoforms, the PTD015 gene is conserved in dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 11q14.1. With approximately 135 million base pairs and 1400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations. Wilms' tumours, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The PTD015 gene product has been provisionally designated PTD015 pending further characterisation.

Supplier: Bioss

Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesised CENPA into centromeres. CENP-T is one of the basic inner kinetochore proteins with most further proteins binding downstream, suggesting a fundamental role of CENP-T in kinetochore function.

Supplier: Bioss

Several mammalian kinases have been identified with sequence similarity to the Saccharomyces cerevisiae serine/threonine kinase STE20. STE20 is involved in relaying signals from G-protein coupled receptors to cytosolic MAP kinase cascades, and it lies upstream of a MAP kinase kinase kinase. Mammalian STE20-like kinases include KHS, GLK, NIK, YSK1, HPK1, Krs-1, Krs-2 and GC kinase. KHS (for kinase homologous to SPS1/STE20) is a protein that is most closely related to GC kinase. The KHS kinase has been shown to activate a variety of substrates, including JNK, suggesting a role in stress response.

Supplier: Bioss

Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2.

Supplier: Bioss

C11orf24, also known as DM4E3, is a 449 amino acid single-pass type I membrane protein that is expressed in brain, lung, skeletal muscle, kidney, spleen, prostate, testis, ovary and small intestine, with highest expression in heart, placenta, liver, pancreas and colon, and low expression in thymus and leukocytes. C11orf24 is encoded by a gene located on human chromosome 11, which consists of approximately 135 million base pairs and 1400 genes. Chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and _ thalassemia are caused by HBB gene mutations. Wilms' tumours, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20 to 30 amino acid motif that forms a hydrophobic ?/ 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. SLITRK6 (SLIT and NTRK-like family, member 6) is an 841 amino acid single-pass type I membrane protein that contains 16 LRR repeats and belongs to the SLITRK family. Expressed at high levels in select brain tissue, as well as in both adult and fetal lung, SLITRK6 functions to suppress neurite outgrowth, playing a role in the regulation of neuronal function. Multiple isoforms of SLITRK6 exist due to alternative splicing events.

Supplier: Bioss

Involved in cell motility. When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity.

Supplier: Bioss

IFI44L.

Supplier: Bioss

FBXL17.

Supplier: Bioss

Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene.

Supplier: Bioss

Belonging to the UPF0667 family, C1orf55 is a 451 amino acid protein that is phosphorylated upon DNA damage, likely by Atm or ATR. There are three different isoforms of C1orf55 that are produced as a result of alternative splicing events. The gene encoding C1orf55 maps to human chromosome 1, 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.

Supplier: Bioss

The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described.

Supplier: Bioss

This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

MUC1 is a large cell surface mucin glycoprotein expressed by most glandular and ductal epithelial cells and some hematopoietic cell lineages. It is expressed on most secretory epithelium, including mammary gland and some hematopoietic cells. It is expressed abundantly in lactating mammary glands and overexpressed abundantly in >90% breast carcinomas and metastases. Transgenic MUC1 has been shown to associate with all four cebB receptors and localise with erbB1 (EGFR) in lactating glands. The MUC1 gene contains seven exons and produces several different alternatively spliced variants. The major expressed form of MUC1 uses all seven exons and is a type 1 transmembrane protein with a large extracellular tandem repeat domain. The tandem repeat domain is highly O glycosylated and alterations in glycosylation have been shown in epithelial cancer cells.

Supplier: Bioss

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20 to 30 amino acid motif that forms a hydrophobic / 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. The primary function of these motifs is to provide a versatile structural framework to mediate the formation of protein-protein interactions. LRRs are present in a variety of proteins with diverse structure and function, including innate immunity and nervous system development. Several human diseases are associated with mutations in genes encoding LRR-containing proteins. The leucine-rich repeat-containing protein 39 (LRRC39) is a 335 amino acid protein that contains nine LRR repeats and exists as two alternatively spliced isoforms.

Supplier: Bioss

COMMD9.

Supplier: Bioss

Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.

Supplier: Bioss

APOD occurs in the macromolecular complex with lecithin-cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts.

Supplier: Bioss

Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity.

Supplier: Bioss

Chromosome 3 is made up of about 214 million bases encoding over 1100 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 tumour 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. The C3orf59 gene product has been provisionally designated C3orf59 pending further characterisation.

Supplier: Bioss

IFIT3.

Supplier: Bioss

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

Supplier: Bioss

Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression.

Supplier: Bioss

SLITRK family proteins are integral membrane proteins that have a C-terminal domain that is partially similar to TRK neurotrophin receptor proteins and two leucine-rich repeat (LRR) domains that are similar to those of SLIT proteins. SLITRK2 (SLIT and NTRK-like protein 2) is a 845 amino acid single-pass type I membrane protein that contains 14 LRR (leucine-rich) repeats and is expressed in neural tissues, with highest levels found in adult cerebral cortex. Overexpression of SLITRK2 leads to inhibition of unipolar neurites in cultured cells, suggesting that it suppresses neurite outgrowth. Inhibitory activity of SLITRK2 is localised to its C-terminal intracellular domain and without this region the protein induces neurite outgrowth. Variants in the gene encoding SLITRK2 may contribute to the development of bipolar disorder, autism spectrum disorder and schizophrenia. There are two isoforms of SLITRK2 that are produced as a result of alternative splicing events.

Supplier: Bioss

The protein encoded by this gene is a type I transmembrane protein that localises 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.

Supplier: Bioss

SETBP1 (SET binding protein 1), also known as SEB, is a 1,542 amino acid nuclear protein that contains three AT hook DNA-binding domains, one SKI homology region and a C-terminal SET-binding domain, which is followed by three PPLPPPPP repeats. SETBP1 may be involved in SET-related tumorigenesis and leukemogenesis by regulating the transforming activity of SKI in the nucleus or suppressing SET function. As a widely expressed protein, SETBP1 is encoded by a gene that maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localised genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.

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 C1orf54 gene product has been provisionally designated C1orf54 pending further characterization.