45971 Results for: "1-Methylindol-3-ylacetic+acid&pageNo=88"

Supplier: Bioss

Bloom’s syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth deficiencies, sun sensitivity, immunodeficiency and a predisposition to various cancers. The gene responsible for Bloom’s syndrome, BLM, encodes a protein homologous to the RecQ helicase of E. coli and is mutated in most Bloom’s syndrome patients. One characteristic of Bloom’s syndrome is an increased frequency of sister chromatid exchange (SCE). BLM has been shown to unwind G4 DNA, and a failure of this function is thought to be responsible for the increased rate of SCE. BLM is known to be translocated to the nucleus, where its ATPase activity is stimulated by both single- and double-stranded DNA. Mutations in the yeast SGS1, a homolog of BLM, are known to cause mitotic hyperrecombination similiar to that observed in Bloom’s cells.

Supplier: Bioss

AMP deaminase plays a critical role in energy metabolism.Involvement in diseaseDefects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE); also known as erythrocyte AMP deaminase deficiency. AMPDDE is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.

Supplier: Bioss

The MAGUK (membrane-associated guanylate kinase homologs) family of proteins contain multiple protein-binding domains and are involved in cell junction organization, tumor suppression, and signaling. CASK (also designated LIN-2) belongs to a MAGUK subfamily which is characterized by a novel domain structure that consists of a calcium/calmodulin- dependent protein kinase domain followed by PDZ, SH3 and guanylate kinase-like (GUK) domains. CASK is expressed in rat brain where it binds to cell-surface proteins, such as neurexin and syndecan, and is thought to be involved in signaling at neuronal synapses. CASK translocates to the nucleus and interacts with Tbr-1 to form a complex, which binds to a specific DNA sequence (the T-element), and induces the expression of specific genes, including Reelin. CASK displays a transcription regulation function, which appears crucial for cerebrocortical development.

Supplier: Bioss

Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD50 (ankyrin repeat domain 50) is a 1,429 amino acid phosphoprotein that contains nineteen ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly and mosquito, ANKRD50 is encoded by a gene that maps to human chromosome 4q28.1. Chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which encodes an expanded glutamine tract in cases of Huntington's disease, is located on chromosome 4. FGFR-3 is also encoded by a gene that maps to human chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also linked to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Supplier: Bioss

DOM3Z, also known as NG6 or DOM3L, is a 396 amino acid ubiquitously expressed protein belonging to the Dom3Z family. The gene encoding DOM3Z maps to human chromosome 6 in the major histocompatibility complex (MHC) class III region. Chromosome 6 contains 170 million base pairs and comprises nearly 6% of the human genome. 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. Additionally, Porphyria cutanea tarda, Parkinson's disease and Stickler syndrome are all associated with genes that map to chromosome 6.

Supplier: Bioss

GAD-65 and GAD-67, glutamate decarboxylases, function to catalyze the production of GABA (gamma-aminobutyric acid). In the central nervous system GABA functions as the main inhibitory transmitter by increasing a Cl- conductance that inhibits neuronal firing. GABA has been shown to activate both ionotropic (GABAA) and metabotropic (GABAB) receptors as well as a third class of receptors called GABAC. Both GABAA and GABAC are ligand-gated ion channels, however, they are structurally and functionally distinct. Members of the GABAA receptor family include GABAA R alpha 1-6, GABAA R beta 1-3, GABAA R gamma 1-3, GABAA R gamma , GABAA R delta. The GABAB family is composed of GABAB R1 alpha and GABAB R1 beta. GABA transporters have also been identified and include GABA T-1, GABA T-2 and GABA T-3 (also designated GAT-1, -2, and -3). The GABA transporters function to terminate GABA action.

Supplier: Bioss

C18orf1 is a 306 amino acid single-pass membrane protein that contains one LDL-receptor class A domain and belongs to the PMEPA1 family. C18orf1 exists as five alternatively spliced isoforms that display selective expression and are 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-localized 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

DR1, also known as NC2∫ (negative cofactor 2 subunit ∫), is a TFIID (TATA box-binding protein)-associated protein. DR1 localizes to the nucleus and contains an N-terminal histone fold motif, a TFIID-binding domain and an alanine and glutamine rich region. Via its histone fold motif, DR1 forms a heterodimer with NC2å (DRAP1) to comprise the conserved eukaryotic complex, NC2 (negative cofactor 2). The NC2 complex can both positively and negatively regulate transcription by RNA Pol II. More specifically, NC2 acts as a repressor of TATA-dependent transcription and acts as an activator for DPE-dependent transcription. NC2 represses RNA Pol II transcription by binding to TFIID and inhibiting association of the transcription factors TFIIA and TFIIB. NC2 activity is regulated by phosphorylation. Both subunits, NC2å and DR1, are phosphorylated in vivo.

Supplier: Bioss

Papillomavirus Regulatory Factor 1/HDBP2 is a novel transcription factor shuttling between nucleus and cytoplasm and binds to the specific GCCGGCG, which is an essential cis-element for Huntington's disease gene expression.

Supplier: Bioss

The aldo-keto reductase 7 (AKR7) family includes AKR7A2, AKR7A3 and AKR7A4 in human, AKR7A5 in mouse and AKR7A2 in rat, all of which function in the metabolism of aflatoxin B(1) and other dicarbonyl-containing compounds. More specifically, AKR7A proteins are involved in the metabolism of compounds with ketone groups on adjacent carbon atoms in a broad range of tissues, notably the liver. The human AKR7A2 gene maps to human chromosome 1p35-36, a region frequently deleted in sporadic colorectal cancer. The functional significance of this correlation lies in the constitutive expression of AKR7A2 in human liver to eliminate aflatoxin (an environmental carcinogen), thus acting as an endogenous chemo-preventative agent.

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 C1orf50 gene product has been provisionally designated C1orf50 pending further characterization.

Supplier: Bioss

Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Supplier: Bioss

ppGpp hydrolyzing enzyme involved in starvation response.

Supplier: Bioss

Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.

Supplier: Bioss

Linker for activation of T cells (LAT) is an integral membrane protein (36 to 38 kD), which plays an important role in linking engagement of the TCR to the biochemical events of T cell activation. LAT antibody stains thymus and peripheral lymphoid tissues such as T cell areas in lymph nodes and spleen. LAT is expressed in T lymphocytes in interstitial spaces, platelets and megakaryocytes. LAT is not expressed in B cells, macrophages, plasma cells, monocytes, epithelial histiocytes and dendritic cells.

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). Ubr2 (Ubiquitin-protein ligase E3-alpha-2), also known as N-recognin-2, is a 1755 amino acid protein that contains one UBR-type zinc finger and one RING-type zinc finger. Participating in protein modification events within the N-end rule pathway, Ubr2 functions as an E3 ubiquitin-protein ligase that recognizes and binds proteins that contain destabilizing N-terminal residues, thereby leading to their ubiquitination and subsequent degradation. Mice lacking Ubr2 are infertile due to defects in male meiosis.

Supplier: Bioss

The steady state of protein tyrosyl phosphorylation in cells is regulated by the opposing action of tyrosine kinases and protein tyrosine phosphatases (PTPs). Several groups have independently identified a non transmembrane PTP, designated SHPTP1 (also known as PTP1C, HCP and SHP), which is primarily expressed in hematopoietic cells and characterized by the presence of two SH2 domains N terminal to the PTP domain. A second and much more widely expressed PTP with SH2 domains, SHPTP2 (also designated PTP1D and Syp), has been identified. SHP2 is a protein tyrosine phosphatase that is widely expressed and plays a regulatory role in various cell signaling events that are important for many cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration.

Supplier: Bioss

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein kinase is highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2. It is a catalytic subunit of the cyclin-dependent protein kinase complex, whose activity is restricted to the G1-S phase, and essential for cell cycle G1/S phase transition. This protein associates with and regulated by the regulatory subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A) and p27Kip1 (CDKN1B). Its activity is also regulated by its protein phosphorylation. Two alternatively spliced variants and multiple transcription initiation sites of this gene have been reported. cdk2 is a cell cycle protein closely related to Cdc2 (cdk1) that has proved useful as a marker of proliferation. cdk2 binds cyclin type A and E proteins and controls progression into S-phase.

Supplier: Bioss

SMC4 is a central component of the condensin complex, which is required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.

Supplier: Bioss

May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation.

Supplier: Bioss

This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq].

Supplier: Bioss

Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. May also mediate the development of insulin resistance by regulating activation of transcription factors. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease. May be involved in the regulation of replication in pancreatic beta-cells. Is necessary for the establishment of neuronal polarity and axon outgrowth. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation.

Supplier: Bioss

The BTB (Broad-Complex, Tramtrack and Bric a brac) domain, also known as the POZ (Poxvirus and Zinc finger) domain, is an N-terminal homodimerization domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. Proteins that contain BTB domains are thought to be involved in transcriptional regulation via control of chromatin structure and function. The Kelch domain-containing protein 9 (KLHDC9), also designated Kelch/ankyrin repeat-containing cyclin A1-interacting protein (KARCA1), contains 3 Kelch repeats and interacts with CCNA1. The gene encoding KLHDC9 maps to chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene of human chromosome 1, which encodes lamin A. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Supplier: Bioss

Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is required for correct intracellular transport and degradation of CDKN1B.

Supplier: Bioss

C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded by a gene that is located on chromosome 4, and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Supplier: Bioss

WNK1 controls sodium and chloride ion transport by inhibiting the activity of WNK4, potentially by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide sensitive Na/Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization.

Supplier: Bioss

Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription.

Supplier: Bioss

TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP free TAFII complex (TFTC). TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I.

Supplier: Bioss

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin.

Supplier: Bioss

CAB39L