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Description:
GM130, a cis-Golgi matrix protein, interacts specifically with p115 and provides a membrane docking site. Both GM130 and p115 are involved in vesicle tethering to Golgi membranes. The protein p115 also binds p400, alternatively called giantin. Giantin, the majority of whose mass projects into the cytoplasm, is involved in the docking of COPI vesicles via p115 to the Golgi membrane. Giantin, which also is known as macrogolgin or Golgi complex-associated protein, is involved in cross-bridge formation in the Golgi complex. Giantin, which can form a homodimer, is a single-pass type I membrane protein that is an antigen in Sjoegren syndrome and in chronic rheumatoid arthritis.
Description:
ADRM1 is a 407 amino acid protein that localizes to both the nucleus and the cytoplasm and is thought to be involved in protein recruitment and cell adhesion. An integral membrane protein, ADRM1 functions to recruit UCH-L5, a deubiquitinating enzyme, to the 26S proteasome, and once at the proteasome it promotes the activity of UCH-L5. Additionally, ADRM1 is thought to mediate lymphocyte adhesion in endothelial cells and may thus play a role in lymphocyte homing. ADRM1 expression is induced by IFN-g in some cancer cell lines and its expression is upregulated in other metastatic cells, suggesting a role in carcinogenesis. Two isoforms of ADRM1 exist due to alternative splicing events.
Description:
The intracellular stimulation of guanylate cyclase (GC) by calcium, a key event in the recovery of the dark state of rod photoreceptors after exposure to light, is mediated by guanylate cyclase-activating proteins (GCAP). GCAPs are calcium-binding proteins belonging to the calmodulin superfamily and are specifically expressed in retina. GCAP3 (Guanylyl cyclase-activating protein 3), also known as GUCA1C (Guanylate cyclase activator 1C), is a 209 amino acid EF-hand calcium binding protein that is activated by the decrease in calcium from the absorption of light by rhodopsin. Activation of GCAP3 leads to stimulation of guanylate cyclase 1 and 2 (GC1 and GC2), which increases cGMP concentration. Calcium sensitive regulation of GC is essential in recovery of the rod receptor dark state following light exposure. There are two isoforms of GCAP3 that are produced as a result of alternative splicing events.
Description:
JAK2 (Janus Activating Kinase 2) is a tyrosine kinase of the non-receptor type, that associates with the intracellular domains of cytokine receptors; JAK2 is the predominant JAK kinase activated in response to several growth factors and cytokines such as IL-3, GM-CSF and erythropoietin; it has been found to be constitutively associated with the prolactin receptor and is required for responses to gamma interferon. Ligand binding to a variety of cell surface receptors (e.g., cytokine, growth factor, GPCRs) leads to an association of those receptors with JAK proteins, which are then activated via phosphorylation on tyrosines 1007 and 1008 in the kinase activation loop. Activated JAK proteins phosphorylate and activate STAT (signal transducers and activators of transcription) proteins, which then dimerize and translocate to the nucleus. Once in the nucleus, STAT proteins bind to DNA and modify the transcription of various genes.
Description:
GCDH is a 438 amino acid protein that localizes to the mitochondrial matrix and belongs to the acyl-CoA dehydrogenase family. Existing as a homotetramer, GCDH uses FAD as a cofactor to catalyze the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine and L-tryptophan metabolism. While GCDH exists as both a long and short isoform, only the long isoform is a functionally active protein. Defects in the gene encoding GCDH are the cause of glutaric acidemia type I (GA-I), an autosomal recessive disorder that is characterized by the accumulation of glutaconic acid and is associated with such symptoms as progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.
Description:
GTP cyclohydrolase I feedback regulatory protein (GFRP) is encoded by the gene GCHFR. GFRP mediates feedback inhibition of GTP cyclohydrolase I activity by tetrahydrobiopterin. GFRP also acts as a mediator for the stimulatory effect of phenylalanine on enzyme activity. L-phenylalanine reverses this inhibition. The molecular weight of GFRP is approximately 9.5kDa although cross-linking experiments have shown that GFRP is usually found as a homodimer or as a pentamer. 15q15.
Description:
GTP cyclohydrolase I feedback regulatory protein (GFRP) is encoded by the gene GCHFR. GFRP mediates feedback inhibition of GTP cyclohydrolase I activity by tetrahydrobiopterin. GFRP also acts as a mediator for the stimulatory effect of phenylalanine on enzyme activity. L-phenylalanine reverses this inhibition. The molecular weight of GFRP is approximately 9.5kDa although cross-linking experiments have shown that GFRP is usually found as a homodimer or as a pentamer. 15q15.
Description:
Glial cells missing homolog 2 (GCM2), also known as Chorion-specific transcription factor GCMb, is a 506 amino acid nuclear protein. GCM2 is a transcription factor that acts as an essential regulator of parathyroid development. GCM2 is also thought to mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. GCM2 contains one N-terminal GCM domain, which has DNA binding activity. Mutations of the gene that encodes GCM2 are associated with hypoparathyroidism, an autosomal recessive condition characterized by hypocalcemia and hyperphosphatemia.
Description:
Glial cells missing homolog 2 (GCM2), also known as Chorion-specific transcription factor GCMb, is a 506 amino acid nuclear protein. GCM2 is a transcription factor that acts as an essential regulator of parathyroid development. GCM2 is also thought to mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. GCM2 contains one N-terminal GCM domain, which has DNA binding activity. Mutations of the gene that encodes GCM2 are associated with hypoparathyroidism, an autosomal recessive condition characterized by hypocalcemia and hyperphosphatemia.
Description:
Downregulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance.
Description:
Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
Description:
GK2 is a 553 amino acid protein that belongs to the FGGY kinase family and is involved in the pathway of glycerol degradation. Localized to the outer membrane of the mitochondrion and expressed at high levels in testis, GK2 functions to catalyze the ATP-dependent conversion of glycerol to glycerol 3-phosphate. Via its catalytic activity, GK2 plays an essential role in the regulation of glycerol uptake and metabolism. The gene encoding GK2 maps to chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
UOM:
1 * 100 µl
Promotion
,BOSSBS-13366R-A350EA
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