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Description:
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).
Description:
Protein kinases are enzymes that transfer a phosphate group from a phosphate donor onto an acceptor amino acid in a substrate protein. By this basic mechanism, protein kinases mediate most of the signal transduction in eukaryotic cells, regulating cellular metabolism, transcription, cell cycle progression, cytoskeletal rearrangement and cell movement, apoptosis, and differentiation. The protein kinase family is one of the largest families of proteins in eukaryotes, classified in 8 major groups based on sequence comparison of their tyrosine (PTK) or serine/threonine (STK) kinase catalytic domains. Epidermal Growth factor receptor (EGFR) is the prototype member of the type 1 receptor tyrosine kinases. EGFR overexpression in tumors indicates poor prognosis and is observed in tumors of the head and neck, brain, bladder, stomach, breast, lung, endometrium, cervix, vulva, ovary, esophagus, stomach and in squamous cell carcinoma.
Description:
Protein kinases are enzymes that transfer a phosphate group from a phosphate donor onto an acceptor amino acid in a substrate protein. By this basic mechanism, protein kinases mediate most of the signal transduction in eukaryotic cells, regulating cellular metabolism, transcription, cell cycle progression, cytoskeletal rearrangement and cell movement, apoptosis, and differentiation. The protein kinase family is one of the largest families of proteins in eukaryotes, classified in 8 major groups based on sequence comparison of their tyrosine (PTK) or serine/threonine (STK) kinase catalytic domains. Epidermal Growth factor receptor (EGFR) is the prototype member of the type 1 receptor tyrosine kinases. EGFR overexpression in tumors indicates poor prognosis and is observed in tumors of the head and neck, brain, bladder, stomach, breast, lung, endometrium, cervix, vulva, ovary, esophagus, stomach and in squamous cell carcinoma.
Description:
Protein kinases are enzymes that transfer a phosphate group from a phosphate donor onto an acceptor amino acid in a substrate protein. By this basic mechanism, protein kinases mediate most of the signal transduction in eukaryotic cells, regulating cellular metabolism, transcription, cell cycle progression, cytoskeletal rearrangement and cell movement, apoptosis, and differentiation. The protein kinase family is one of the largest families of proteins in eukaryotes, classified in 8 major groups based on sequence comparison of their tyrosine (PTK) or serine/threonine (STK) kinase catalytic domains. Epidermal Growth factor receptor (EGFR) is the prototype member of the type 1 receptor tyrosine kinases. EGFR overexpression in tumors indicates poor prognosis and is observed in tumors of the head and neck, brain, bladder, stomach, breast, lung, endometrium, cervix, vulva, ovary, esophagus, stomach and in squamous cell carcinoma.
Description:
Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity).
Description:
The cerebral and vascular plaques associated with Alzheimer's disease are mainly composed of Amyloid beta peptides. beta Amyloid is derived from cleavage of the Amyloid precursor protein and varies in length from 39 to 43 amino acids. beta Amyloid [1-40], beta Amyloid [1-42], and beta Amyloid [1-43] peptides result from cleavage of Amyloid precursor protein after residues 40, 42, and 43, respectively. The cleavage takes place by gamma-secretase during the last Amyloid precursor protein processing step. beta Amyloid [1-40], beta Amyloid [1-42], and beta Amyloid [1-43] peptides are major constituents of the plaques and tangles that occur in Alzheimer's disease. beta Amyloid and peptides have been developed as tools for elucidating the biology of Alzheimer's disease.
Description:
GTP cyclohydrolase I (also designated dopa-responsive dystonia) catalyzes the conversion of GTP to D-erythro-7,8-dihydroneopterin triphosphate, the first and rate-limiting step in tetrahydrobiopterin (BH4) biosynthesis. Tetrahydrobiopterin is an essential cofactor for 3 aromatic amino acid monooxygenases: phenylalanine, tyrosine, and tryptophan hydroxylases. Animals can synthesize tetrahydrobiopterin in vivo from GTP through several enzymatic reactions.
Description:
This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008].
Description:
Amines, including those present on proteins, spontaneously react with glucose to make fructosamines in a reaction termed glycation. Fructosamine 3-kinase (FN3K), a 309-amino acid enzyme initially identified in erythrocytes, catalyzes the ATP-dependent phosphorylation of the third carbon on both D- and L-fructosamines, leading to their destabilization and eventually, their removal from the protein. FN3K is a monomer that is ubiquitously expressed in mammalian tissue and phosphorylates both low molecular mass and protein-bound fructosamines which are formed as a result of glycation of glucose with primary amines. FN3K protects proteins from the harmful effects of nonenzymatic glycation, and may also be involved in peptide repair and cell metabolism. FN3KRP (fructosamine-3-kinase-related protein) is a 309 amino acid protein that is expressed in erythrocytes, bone marrow, spleen, brain and kidney and belongs to the fructosamine kinase family. FN3KRP functions to phosphorylate psicoamines and ribulosamines on the third carbon of their sugar moiety, thereby leading to the deglycation of the target amines.
Description:
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.
Description:
The FOX family of transcription factors share a common DIUA binding domain termed a winged-helix or forkhead domain. Many FOX proteins play important roles in development, metabolism, cancer and aging. Development of the vertebrate gut is controlled by paracrine crosstalk between the endodermal epithelium and the associated splanchnic mesoderm. FOXF2 (forkhead box F2), also known as FKHL or FREAC2, is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. FOXF2 interacts with transcription factors TFIIB and TBP, and may be involved in regulating transcription in embryogenesis and pattern formation in multicellular organisms. FOXF2-deficient mice develop cleft palate and an abnormal tongue, which suggests that FOXF2 may be critical for palatogenesis.
Description:
HoxB6 is cytoplasmically expressed throughout fetal epidermal development, but displays nuclear expression in normal adult skin. HoxB6 protein also has nuclear expression in hyperproliferative skin conditions, but appears to be localized in the cytoplasm in basal and squamous cell carcinomas. HoxB6 genes are also expressed in normal adult lung.
Description:
UTF1 is a 341 amino acid protein that localizes to the nucleus and is subject to post-translational phosphorylation. Associating with the TFIID complex via an interaction with the TATA box binding protein (TFIID), UTF1 binds to the N-terminal region of ATF-2 and, via this binding, acts as a transcriptional coactivator of ATF-2, thereby enhancing transcriptional activity. Human UTF1 shares 64% homology with its mouse counterpart, suggesting a similar role between species. The gene encoding UTF1 maps to human chromosome 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
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