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PIK3R1
Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the ''PIK3R1'' gene. Function Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. The ''Pik3r1'' gene locus encodes the 85 kD regulatory subunit, as well as 55 and 50 kD regulatory subunits. It used to be thought that alternative splicing of this gene resulted in three transcript variants encoding different isoforms. In fact, it has since been shown that the 55 and 50kD subunits have their own promotors within the gene locus ''Pik3r1''. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Suppression specifically of the 85kD subunit in early murine embryoid body development results in a transient cell-cell adhe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SHORT Syndrome
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975. Signs and symptoms The acronym SHORT, which stands for characteristic traits seen in the majority of patients, is incorporated into the name of the condition. These features include the following: Short stature. Hyperextensibility of the joints and/or inguinal hernias. Ocular depression. Rieger anomaly. Delayed teething. Additional clinical features include intrauterine growth restriction, facial dysmorphism (deep-set eyes, prominent forehead, hypoplastic or thin alae nasi, small chin, large low-set ears, border, and downturned mouth), wrinkled and thin skin emphasizing a progeroid appearance, and mild midface hypoplasia. Lipodystrophy, or the absence of adipose tissue beneath the skin, is another common characteristic of the condition that primarily affects the fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phosphatidylinositol 3-kinase
Phosphoinositide 3-kinases (PI3Ks), also called phosphatidylinositol 3-kinases, are a family of enzymes involved in cellular functions such as cell growth, proliferation, differentiation, motility, survival and intracellular trafficking, which in turn are involved in cancer. PI3Ks are a family of related intracellular signal transducer enzymes capable of phosphorylating the 3 position hydroxyl group of the inositol ring of phosphatidylinositol (PtdIns). The pathway, with oncogene PIK3CA and tumor suppressor gene PTEN, is implicated in the sensitivity of cancer tumors to insulin and IGF1, and in calorie restriction. Discovery The discovery of PI3Ks by Lewis Cantley and colleagues began with their identification of a previously unknown phosphoinositide kinase associated with the polyoma middle T protein. They observed unique substrate specificity and chromatographic properties of the products of the lipid kinase, leading to the discovery that this phosphoinositide kinase had ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LTK (gene)
Leukocyte receptor tyrosine kinase is an enzyme that in humans is encoded by the ''LTK'' gene. Function The protein encoded by this gene is a member of the ALK/LTK receptor family of receptor tyrosine kinases (RTKs) whose ligand is unknown. Closely related to the insulin receptor family of RTKs. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Interactions LTK has been shown to interact with IRS-1, Shc, and PIK3R1 Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the ''PIK3R1'' gene. Function Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. .... References Further reading * * * * * * * * * * * * Tyrosine kinase receptors {{gene-15- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CENTG1
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 is a protein that in humans is encoded by the ''AGAP2'' gene. Interactions CENTG1 has been shown to interact with: * EPB41L1, * HOMER1 and * PIK3R1 Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the ''PIK3R1'' gene. Function Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. .... References External links * Further reading * * * * * * * * * * * * * * * * * {{gene-12-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Janus Kinase 2
Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase. It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family ( IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g., IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R). The distinguishing feature between janus kinase 2 and other JAK kinases is the lack of Src homology binding domains ( SH2/ SH3) and the presence of up to seven JAK homology domains (JH1-JH7). Nonetheless the terminal JH domains retain a high level of homology to tyrosine kinase domains. An interesting note is that only one of these carboxy-terminal JH domains retains full kinase function (JH1) while the other (JH2), previously thought to have no kinase functionality and accordingly termed a pseudokinase domain, has since been found to be catalytically active, albeit at only 10% ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Interleukin 1 Receptor, Type I
Interleukin 1 receptor, type I (IL1R1) also known as CD121a (Cluster of Differentiation 121a), is an interleukin receptor. IL1R1 also denotes its human gene. The protein encoded by this gene is a cytokine receptor that belongs to the interleukin-1 receptor family. This protein is a receptor for interleukin 1 alpha (IL1A), interleukin 1 beta (IL1B), and interleukin 1 receptor antagonist (IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Interactions Interleukin 1 receptor, type I has been shown to interact with PIK3R1, Myd88 and IL1RAP. See also * Cluster of differentiation The cluster of differentiation (also known as cluster of designation or classification determinant and often abbreviated as CD) is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IRS2
Insulin receptor substrate 2 is a protein that in humans is encoded by the ''IRS2'' gene. Function This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. Mice lacking IRS2 have a diabetic phenotype as well as a 40% reduction in brain mass. Interactions IRS2 has been shown to interact with: * PLCG1, * SOCS1, and * PIK3R1 Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the ''PIK3R1'' gene. Function Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime positio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IRS1
Insulin receptor substrate 1 (IRS-1) is a signaling adapter protein that in humans is encoded by the ''IRS1'' gene. It is a 180 kDa protein with amino acid sequence of 1242 residues. It contains a single pleckstrin homology (PH) domain at the N-terminus and a PTB domain ca. 40 residues downstream of this, followed by a poorly conserved C-terminus tail. Together with IRS2, IRS3 (pseudogene) and IRS4, it is homologous to the ''Drosophila'' protein ''chico'', whose disruption extends the median lifespan of flies up to 48%. Similarly, Irs1 mutant mice experience moderate life extension and delayed age-related pathologies. Function Insulin receptor substrate 1 plays a key role in transmitting signals from the insulin receptor (IR) and insulin-like growth factor 1 receptor (IGF-1) to intracellular pathways PI3K / Akt and Erk MAP kinase pathways. Tyrosine phosphorylation of IRS-1 by insulin receptor (IR) introduces multiple binding sites for proteins bearing SH2 homology domai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Grb2
Growth factor receptor-bound protein 2, also known as Grb2, is an adaptor protein involved in signal transduction/ cell communication. In humans, the GRB2 protein is encoded by the ''GRB2'' gene. The protein encoded by this gene binds receptors such as the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the ''sem-5'' gene of ''Caenorhabditis elegans'', which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. Function and expression Grb2 is widely expressed and is essential for multiple cellular functions. Inhibition of Grb2 function impairs developmental processes in various organisms and blocks transformation and proliferation of various cell types. It is thus n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GAB1
GRB2-associated-binding protein 1 is a protein that in humans is encoded by the ''GAB1'' gene. Function The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. The encoded protein is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Interactions GAB1 has been shown to interact with: * CRKL, * Grb2, * MAP3K3, * PIK3R1, * PLCG1 and * PTPN11 Tyrosine-protein phosphatase non-receptor type 11 (PTPN11) also known as protein-tyrosine phosphatase 1D (PTP-1D), Src homology region 2 domain-containing phosphatase-2 (SHP-2), or protein-tyrosine phosphatase 2C (PTP-2C) is an enzyme that in hu .... References Further reading * * * * * * * * * * * * * * * * * * * {{refend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FCGR2A
Low affinity immunoglobulin gamma Fc region receptor II-a is a protein that in humans is encoded by the ''FCGR2A'' gene. Interactions FCGR2A has been shown to interact with PIK3R1 and Syk. See also * CD32 CD32 (cluster of differentiation 32), also known as FcγRII or FCGR2, is a surface receptor glycoprotein belonging to the Ig gene superfamily. CD32 can be found on the surface of a variety of immune cells. CD32 has a low-affinity for the Fc r ... References Further reading * * * * * * * * * * * * * * * * * * * External links * PDBe-KBprovides an overview of all the structure information available in the PDB for Human Low affinity immunoglobulin gamma Fc region receptor II-a (FCGR2A) Clusters of differentiation Fc receptors {{immunology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ezrin
Ezrin also known as cytovillin or villin-2 is a protein that in humans is encoded by the ''EZR'' gene. Structure The N-terminus of ezrin contains a FERM domain which is further subdivided into three subdomains. The C-terminus contains an ERM domain. Function The cytoplasmic peripheral protein encoded by this gene can be phosphorylated by protein- tyrosine kinase in microvilli and is a member of the ERM protein family. This protein serves as a linker between plasma membrane and actin cytoskeleton The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is compos .... It plays a key role in cell surface structure adhesion, migration, and organization. The N-terminal domain (also called FERM domain) binds sodium-hydrogen exchanger regulatory factor ( NHERF) protein (involving long-range ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |