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Description:
DRGX is a transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain.
Description:
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. SLC25A14 has an N-terminal hydrophobic domain that is not present in other UCPs.
Description:
GAMT is a methyltransferase which belongs to the class I-like SAM-binding methyltransferase superfamily. It contains one RMT2 (arginine N-methyltransferase 2-like) domain and is expressed in liver. GAMT converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency, which is an autosomal recessive disorder characterised by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.
Description:
ERBB2 belongs to the protein kinase superfamily, Tyr protein kinase family and EGF receptor subfamily. It contains a protein kinase domain. ERBB2 is widely expressed in epithelial cells, and amplification and/or overexpression of ErbB2 has been reported associated with malignancy and a poor prognosis in numerous carcinomas, including breast, prostate and ovarian cancers. Rat ERBB2 is an essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. ErbB2 mediates signalling pathways which involve mitogen-activated protein kinase and phosphatidylinositol-3 kinase, this receptor plays a key role in development, cell proliferation and differentiation.
Description:
CSNK1G2 is a cytoplasmic protein which contains one protein kinase domain. It is amember of the CK1 Ser/Thr protein kinase family of the large casein kinase I (CKI) subfamily. CSNK1G2 participates in Wnt signalling, involves in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. It regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses.
Description:
FGF-23 (Fibroblast growth factor 23) is a regulator of phosphate homeostasis. It upregulates EGR1 expression in the presence of KLBy. Acts directly on the parathyroid to decrease PTH secretion. Regulates the vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralisation. Defects in FGF-23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) and of hyperphosphatemic familial tumoral calcinosis (HFTC).
Description:
CCT5 is a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
Description:
CDC42EP4 is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. The protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, the protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control.The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control.
Description:
FBXO8 is a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. FBXO8 belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor (s) (ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity.This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor (s) (ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity.
Description:
Akirin1 Antibody: The highly conserved, nuclear-localized Akirin1 and Akirin2 proteins critically regulate the transcription of NF-kappa B-dependent genes and are required for defense against Gram-negative bacteria in the immune deficiency and NF-kappa B pathways. Akirin1 is dispensable in the mouse, and neither knockout mice nor cells derived from them have obvious distinctive phenotypes. In contrast, Akirin2 is required for development in the mouse and knockout of both Akirin homologs in mice show that Akirin2 is required downstream of toll-like receptor (TLR), TNF-alpha and IL-1 beta signaling, and for the production of IL-6. Akirin2 is functionally closer to the single gene in Drosophila, as the homozygous null D. melanogaster Akirin mutants show a similar, mid-to-early embryonic death.
Description:
S1P1 Antibody: Movement of lymphocytes through lymphoid organs is required for generating immunity. Their migration into lymph nodes follows a series of events including integrin activation through chemokine signaling, adhesion and diapedis. The release of lymphocytes from lymph nodes is regulated by the phospholipid sphingosine-1-phosphate (S1P). One of its receptors S1P1 binds S1P with high specificity and affinity; agonism of this receptor by the immunosuppressive agent FTY720 inhibits the entry of tissue T cells into afferent lymphatics in homeostatic and inflammatory conditions. Recent experiments have indicated that CCR7-deficient T cells left lymph nodes more rapidly than wild-type cells did and these cells where also less effectively retained after treatment with FTY720, and that egress competence could be restored by inactivating G alpha i-protein-coupled receptor signaling. These results suggest that S1P1 acts in the lymphocyte to promote lymph node egress by overcoming retention signals mediated by CCR7 and G alpha i-protein-coupled receptor signaling.
Description:
RBM34 belongs to the RRM RBM34 family. It contains 2 RRM (RNA recognition motif) domains. The function of the RBM34 protein remains unknown.
Description:
ADROPIN is a recently identified protein that has been implicated in the maintenance of energy homeostasis and insulin resistance. ADROPIN expression is regulated by energy status and dietary nutrient content and is altered by obesity and regulates the expression of hepatic lipogenic genes and adipose tissue peroxisome proliferator-activated receptor gamma (PPAR-gamma). ADROPIN levels increase with dietary fat content. ADROPIN has also been proposed to play a role in the regulation of endothelial function.
UOM:
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