Supplier: Apollo Scientific

Methyl 6,7-dihydro-4H-thieno[3,2-c]pyran-2-carboxylate

Supplier: Apollo Scientific

6,7-Dihydro-4H-thieno[3,2-c]pyran-2-carboxylic acid

Supplier: Bioss

Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (Phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tumors.

Supplier: Bioss

The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. The mammalian HOX gene complex consists of 39 genes that are located on four linkage groups, which are dispersed over four chromosomes. HOX genes that occupy the same relative position along the 5’ to 3’ coordinate (trans-paralogous genes) are more similar in sequence and expression pattern than adjacent HOX genes on the same chromosome. HoxA3, in conjunction with Pax1, mediates the development of the thymus, parathyroid gland, and carotid body. Its expression in the third pharyngeal arch and pouch is required for development of the third arch artery, and homozygous null HoxA3 mutants lack the carotid body. HoxA3 also regulates hindbrain development by controlling the axon projection pattern of motor neurons and sensory neurons of the proximal and distal ganglia.

Supplier: Bioss

Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs.

Supplier: Bioss

C2orf80

Supplier: Bioss

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].

Supplier: Apollo Scientific

N-(tert-Butyl)-1-methyl-1H-pyrazolo[3,4-d]pyrimidin-4-amine

Supplier: Bioss

Polycystin-1L3 is a 1,732 amino acid multi-pass membrane protein that contains one PLAT domain, one GPS domain and one C-type lectin domain. Expressed at high levels in placenta and present at lower levels in lung and heart, Polycystin-1L3 is thought to function as an ion-channel regulator that may interact with Polycystin-L and play a role in heteromeric taste channels. The gene encoding Polycystin-1L3 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.

Supplier: Bioss

The Tenascin family of extracellular matrix proteins includes Tenascin (also designated cytotactin or Tenascin-C), Tenascin-R (also designated Restrictin or Janusin) and Tenascin-X. Tenascin proteins function as substrate-adhesion molecules (SAMs) and are involved in regulating numerous developmental processes, such as morphogenetic cell migration and organogenesis. The Tenascin family proteins arise from various splicing events in the region of coding for FNIII repeats. Tenascin and Tenascin-X are expressed in several tissues during embryogenesis, and in adult tissues undergoing active remodel-ing such as healing wounds and tumors. Tenascin-R (TN-R) is expressed on the surface of neurons and glial cells.

Supplier: Bioss

Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me).

Supplier: Bioss

Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.

Supplier: Bioss

The steroid receptor superfamily acts through direct association with DNA sequences known as hormone response elements (HREs) and binds DNA as either homo- or heterodimers. The promiscuous mediator of heterodimerization, RXR, is the receptor for 9-cis retinoic acid, and dimerizes with VDR, TR, PPAR, and several novel receptors including LXR (also referred to as RLD-1) and FXR. FXR and LXR fall into a category of proteins termed “orphan receptors” because of their lack of a defined function, and in the case of LXR, the lack of a defined ligand. FXR has been shown to bind a class of lipid molecules called farnesoids. LXR/RXR heterodimers have highest affinity for DR-4 DNA elements while FXR/RXR heterodimers bind IR-1 elements. Both LXR/RXR and FXR/RXR heterodimers retain their responsiveness to 9-cis retinoic acid.

Supplier: Bioss

NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Supplier: Bioss

Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis.

Supplier: Bioss

E2-like enzyme involved in autophagy and mitochondrial homeostasis. Catalyzes the conjugation of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A) to phosphatidylethanolamine (PE). PE-conjugation to ATG8-like proteins is essential for autophagy. Preferred substrate is MAP1LC3A. Also acts as an autocatalytic E2-like enzyme, catalyzing the conjugation of ATG12 to itself, ATG12 conjugation to ATG3 playing a role in mitochondrial homeostasis but not in autophagy. ATG7 (E1-like enzyme) facilitates this reaction by forming an E1-E2 complex with ATG3.

Supplier: Bioss

SERBP1 (Plasminogen activator inhibitor 1 RNA-binding protein) may play a role in the regulation of mRNA stability. SERBP1 binds to the 3’-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay. SERBP1 interacts with CHD3 and is localized in cytoplasmic and nuclear. It is expressed at high level in the heart, skeletal muscle and kidney, and at low levels in placenta, liver and brain.

Supplier: Bioss

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq].

Supplier: Bioss

Neurexophilin family (Neurexophilin-1-4) of neuropeptide-like glycoproteins that are proteolytically processed after synthesis. Neurexophilin-1-3 are secreted proteins that are thought to function as signaling molecules which specifically bind to target proteins, such as neurexin I?(a protein that promotes adhesion between dendrites and axons), and are essential for proper neurotransmitter release. While Neurexophilin-1 is located primarily in spleen tissue, Neurexophilin-2 is expressed primarily in kidney and both Neurexophilin-2 and Neurexophilin-3 are highly expressed in brain. Defects in the gene encoding Neurexophilin-1 may be associated with schizophrenia, a mental disorder characterized by an abnormal perception of reality.

Supplier: Bioss

CCDC96

Supplier: Bioss

spindle microtubules. The checkpoint works by inhibiting the activity of the anaphase promoting complex, thereby preventing the degradation of several cell cycle regulators. Like other spindle checkpoint mutants, MAD1 loss-of-function mutants are sensitive to benomyl and cannot delay cell division in response to spindle depolymerization. Mad1p becomes hyperphosphorylated upon spindle depolymerization.

Supplier: Bioss

Involved in histone 3'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases.

Supplier: Bioss

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Supplier: Bioss

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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 characterised 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. The C9orf84 gene product has been provisionally designated C9orf84 pending further characterisation. There are two isoforms of C9orf84 that are produced as a result of alternative splicing events.

Supplier: Bioss

NCoR2_Nuclear receptor corepressor 2_mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 5 have different affinities for different nuclear receptors.

Supplier: Bioss

KLHL31

Supplier: Bioss

ALKB protects DNA and RNA against damage from methylating compounds from the environment by directly reversing 1-methyladenine (1-meA) and 3-methylcytosine (3-meC) cytotoxic alkylation lesions in DNA and RNA. The enzymes act by oxidative demethylation, utilizing ferrous iron and alpha-ketoglutarate as cofactors, 2-oxoglutarate as a co-substrate, and molecular oxygen as the oxidizing agent. Deficiencies in DNA and RNA repair in mammals are associated with cancer, neurological disease and developmental defects. ALKB plays a role in resistance to anti-cancer drugs which attempt to damage tumor DNA. Escherichia coli ALKB protein belongs to the superfamily of 2-oxoglutarate- and iron(II)-dependent oxygenases.

Supplier: Bioss

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene.

Supplier: Bioss

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012]