39754 Results for: "Ethoxyacetic+acid&pageNo=67"

Supplier: Bioss

ErbB3 is a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. ErbB3 is a membrane-bound protein which has a neuregulin binding domain but not an active kinase domain. It can therefore bind this ligand but cannot convey a signal into the cell via protein phosphorylation. However it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers including prostate, bladder and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. Isoform 2 lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported but they have not been thoroughly characterized. Defects in ERBB3 are the cause of lethal congenital contracture syndrome type 2 (LCCS2); also called Israeli Bedouin multiple contracture syndrome type A. LCCS2 is an autosomal recessive neurogenic form of a neonatally lethal arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord.

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Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

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Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PYY >NPY >PYY (3-36) >NPY (2-36) >[Ile-31, Gln-34] PP >[Leu-31, Pro-34] NPY >PP, [Pro-34] PYY and NPY free acid.

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Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity).

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Fyn is a membrane-associated, non-receptor protein tyrosine kinase approximately 59kDa, which belongs to the Src family of cytoplasmic tyrosine kinases. Fyn is very strongly similar to mouse Fyn, v-yes and c-src. Fyn is expressed predominately in tissues of neuronal and hematopoietic origin. Neuronal Fyn and hematopoietic Fyn differ at the junction of the SH2 and kinase domains due to tissue specific alternative splicing. Fyn has been shown to be involved in B cell and T cell activation as well as keratinocyte differentiation. In T cells, Fyn associates with the T-cell antigen receptor and Thy1.The unique N terminal domain of Fyn interacts with the CD3 and eta chains of the TcR. Fyn can bind to other proteins (p82 and p116) through its SH2 and SH3 domains, which may act as substrates or regulators of Fyn activity. Fyn is highly expressed in brain suggesting that it may have a role in the sensory nervous network and in myelination at early stages of CNS formation.

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DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.

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E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

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Ficolin B is the designation in mouse and rat of a protein also known as L-ficolin, ficolin-2, collagen/fibrinogen domain-containing protein 2, serum lectin p35, EBP-37 or hucolin. Ficolin B is a 313 amino acid member of the ficolin lectin family. It is a secreted innate immunity pattern recognition molecule expressed in liver and plasma that forms a disulfide-linked homopolymer. This extensive N-terminal disulfide bridge formation can lead to a functional dodecamer polypeptide. Ficolin B binds to DNA ligands expressed by late apoptotic and necrotic cells to increase attachment and engulfment. Variation in ficolin B concentrations amongst individuals is associated with polymorphisms in the promoter and structural portion of the FCN2 gene. In patients with Beh鏴t's disease (BD), there exists a significant difference in allele frequency for FCN2 gene single nucleotide polymorphisms (SNPs) within the -557 and -64 promoter sites within HLA-B51 positive and HLA-B51 negative subgroups.

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Estrogen and progesterone receptor are members of a family of transcription factors that are regulated by the binding of their cognate ligands. The interaction of hormone-bound estrogen receptors with estrogen responsive elements(EREs) alters transcription of ERE-containing genes. The carboxy terminal region of the estrgen receptor contains the ligand binding domain, the amino terminus serves as the transactivation domain, and the DNA binding domain is centrally located. Two forms of estrogen receptor have been identified, ER Alpha and ER Beta. ER Alpha and ER Beta have been shown to be differentially activated by various ligands. The biological response to progesterone is mediated by two distinct forms of the human progesterone receptor (hPR-A and hPR-B), which arise from alternative splicing. In most cells, hPR-B functions as a transcriptional activator of progesterone-responsive gene, whereas hPR-A function as a transcriptional inhibitor of all steroid hormone receptors.

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MTP18 (Mitochondrial protein 18 kDa) is a downstream target of the phosphatidylinositol 3-kinase signaling pathway and is essential for cell viability. It may have a role in maintaining the integrity of the mitochondrial network. Loss of function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis.

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Ethanolamine kinase 2, also known as EKI2, ETNK2 or HMFT1716, is a 386 amino acid protein that belongs to the choline/ethanolamine kinase family. Via the cytidine diphosphate (CDP) ethanolamine pathway, Ethanolamine kinase 2 catalyses the initial step of phosphatidylethanolamine (PtdEtn) biosynthesis. Ethanolamine kinase 2 is expressed in kidney, liver, testis, ovary and prostate, and is highly specific for ethanolamine phosphorylation. Upregulated during testis development, Ethanolamine kinase 2 may play an essential role in regulating placental hemostasis. Existing as three alternatively spliced isoforms, the gene encoding Ethanolamine kinase 2 maps to human and mouse chromosome 1. 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.

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Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The FAM135B gene product has been provisionally designated FAM135B pending further characterization.

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Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined.

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Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

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This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein has been shown to function as a glutathione-dependent antioxidant in vivo. It is highly expressed in proliferating myoblasts and suggested to be involved in muscle growth and differentiation by protecting the developing myoblasts from oxidative stress. [provided by RefSeq].

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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 5q and 12q. [provided by RefSeq, Jul 2008].

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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.

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C19orf38

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Receptor for TNFSF12/APO3L/TWEAK. Interacts directly with the adapter TRADD. Mediates activation of NF-kappa-B and induces apoptosis. May play a role in regulating lymphocyte homeostasis.

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Receptor for gastrin and cholecystokinin. The CKK-B receptors occur throughout the central nervous system where they modulate anxiety, analgesia, arousal, and neuroleptic activity. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism.

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This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.

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Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

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Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.

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TRPM6 is an essential ion channel and serine/threonine-protein kinase, and is crucial for magnesium homeostasis. TRPM6 also has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. The various isoforms of the type M6-kinase lack the ion channel region.

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Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity).

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The specific function of this protein remains unknown.

Supplier: Bioss

Adenosine deaminase is an enzyme that is present in most tissues and exists predominantly as a monomer, although in some tissues it is associated with adenosine deaminase-binding protein. Adenosine deaminase degrades extracellular adenosine, which is toxic for lymphocytes. A novel family of growth factors that share sequence similarity to adenosine deaminase has been identified. The cat eye syndrome critical region protein (CECR) family includes CECR1, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8 and CECR9. The genes encoding CECR proteins are candidates for Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. CES is characterized by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. CECR family members are widely expressed. Specifically, CECR1 has the highest expression in adult heart, lung, lymphoblasts and placenta. CECR2 is also involved in neurulation and chromatin remodeling. Mutations in the CECR2 gene result in neural tube defects.

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C7orf69.

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SCGB3A1 is a potential growth inhibitory cytokine.

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NAD-dependent protein deacetylase. Has deacetylase activity towards histone H3K9Ac and H3K56Ac. Modulates acetylation of histone H3 in telomeric chromatin during the S-phase of the cell cycle. Deacetylates histone H3K9Ac at NF-kappa-B target promoters and may down-regulate the expression of a subset of NF-kappa-B target genes. Acts as a corepressor of the transcription factor HIF1A to control the expression of multiple glycolytic genes to regulate glucose homeostasis. Required for genomic stability. Regulates the production of TNF protein. Has a role in the regulation of life span (By similarity). Deacetylation of nucleosomes interferes with RELA binding to target DNA. May be required for the association of WRN with telomeres during S-phase and for normal telomere maintenance. Required for genomic stability. Required for normal IGF1 serum levels and normal glucose homeostasis. Modulates cellular senescence and apoptosis. On DNA damage, promotes DNA end resection via deacetylation of RBBP8. Has very weak deacetylase activity and can bind NAD(+) in the absence of acetylated substrate.