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Description:
Activation of TAL1 characterizes up to 60% of cases of human T cell acute lymphoblastic leukemia, making it the most frequent gain-of-function mutation observed in this disorder. TAL1 (also designated SCL) is a serine phosphoprotein and basic helix-loop-helix transcription factor known to regulate embryonic hematopoiesis. This transcription factor binds as a heterodimer with E2A and HEB/HTF4 to a nucleotide sequence motif termed the E-box. In addition, leukemogenesis is accelerated dramatically by transgenic co-expression of TAL1 and the catalytic subunit of casein kinase IIalpha, a serine/ threonine protein kinase known to modulate the activity of other bHLH transcription factors.
Description:
Activation of TAL1 characterizes up to 60% of cases of human T cell acute lymphoblastic leukemia, making it the most frequent gain-of-function mutation observed in this disorder. TAL1 (also designated SCL) is a serine phosphoprotein and basic helix-loop-helix transcription factor known to regulate embryonic hematopoiesis. This transcription factor binds as a heterodimer with E2A and HEB/HTF4 to a nucleotide sequence motif termed the E-box. In addition, leukemogenesis is accelerated dramatically by transgenic co-expression of TAL1 and the catalytic subunit of casein kinase IIalpha, a serine/ threonine protein kinase known to modulate the activity of other bHLH transcription factors.
Description:
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].
Description:
Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL.
Description:
Cyclin G2 may play a role in growth regulation and in negative regulation of cell cycle progesssion. Cyclin G2 expression levels increase through the cell cycle to peak in the mid/late-S phase and decrease during G2/M phase. It may also contribute in maintaining the quiescent state of differentiated cells. Cyclin G2 is similar to cyclin A in the cyclin box, although no kinase activity is detected.
Description:
May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Involved in activation of androgen and glucocorticoid receptor in the presence of their cognate hormones. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA.Tissue specificity: Ubiquitously expressed, with highest levels in testes, placenta, heart, and muscle, and lowest levels in lung. Within the brain, expressed predominantly by neurons in the gray matter of cortex, the granular layer of cerebellum and the Purkinje cells.
Description:
Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex.
Description:
Neuropeptides are regulators of synaptic transmission and their effects are mediated by G-protein coupled receptors. NPS (Neuropeptide S) is a 20 amino acid peptide cleaved from a larger precursor that contains a hydrophobic signal peptide and proteolytic cleavage processing sites. The N-terminal residue of NPS is always a serine regardless of the species. NPS is predominantly found in the central nervous system and plays an important role regulating sleep/wake functions, locomotion, arousal/anxiety responses and food intake. NPS functions by binding and activating its receptor, NPSR, and increasing intracellular calcium levels thereby acting as an excitatory transmitter. In addition, NPS stimulates the hypothalamo-pituitary adrenal (HPA) axis via the release of corticotropin-releasing factor (CRF) and arginine vasopressin (AVP). NPS and its receptor NPSR may also play a role in asthma pathogenesis.
Description:
Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex.
Description:
Neuropeptides are regulators of synaptic transmission and their effects are mediated by G-protein coupled receptors. NPS (Neuropeptide S) is a 20 amino acid peptide cleaved from a larger precursor that contains a hydrophobic signal peptide and proteolytic cleavage processing sites. The N-terminal residue of NPS is always a serine regardless of the species. NPS is predominantly found in the central nervous system and plays an important role regulating sleep/wake functions, locomotion, arousal/anxiety responses and food intake. NPS functions by binding and activating its receptor, NPSR, and increasing intracellular calcium levels thereby acting as an excitatory transmitter. In addition, NPS stimulates the hypothalamo-pituitary adrenal (HPA) axis via the release of corticotropin-releasing factor (CRF) and arginine vasopressin (AVP). NPS and its receptor NPSR may also play a role in asthma pathogenesis.
Description:
May be the important intermediate by which p53/TP53 mediates its role as an inhibitor of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex.
Description:
C19orf18 is a 215 amino acid single-pass type I membrane protein that is encoded by a gene located on human chromosome 19. Chromosome 19 consists of approximately 63 million bases and makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fcα receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.
Description:
Involved with pre-mRNA processing. Forms complexes (ribonucleosomes) with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleous.
UOM:
1 * 100 µl
Promotion
,BOSSBS-9091R-CY5.5EA
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