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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. This gene encodes the 85 kD regulatory subunit. 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. Alternative splicing of this gene results in three transcript variants encoding different isoforms. Clinical significance Mutations in ''PIK3R1'' are implicated in cases of breast cancer. Mutations in PIK3R1 are associated to SHORT syndrome. Interactions PIK3R1 has been shown to interact with: * ADAM12, * BCAR1, * CBLB, * CD117, * CD28, * CD7, * CENTG1, * CBL, * EPHA2, * EPOR, * ERBB3, * EZR, * FCGR2A, * GAB1, * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SHORT Syndrome
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975. Presentation SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly and teething delay. Other characteristics common in SHORT syndrome are a triangular face, a prominent forehead, small chin with a dimple, a loss of fat under the skin (lipodystrophy), prominent ears (but no low implantation or posterior localisation), hearing loss and delayed speech. Facial lipodystrophy may be evident during birth and later on in the chest and higher extremities, but it usually won't affect buttocks and legs. Diabetes has been observed in ⅔ of the affected after they turn 15. Diagnosis Diagnosis is based on facial characteristics and molecular genetic testing that will show a mutation on gene ''PIK3R1'' (5q13.1), which codifies the regulating alpha subunit of phosphatidyl ... [...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. The e .... References Further reading * * * * * * * * * * * * Tyrosine kinase receptors {{gene-15-st ... [...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. The e .... 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% that of ... [...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 * Interleukin 1 receptor, type II Interleukin 1 receptor, type II (IL-1R2) also known as CD121b (Cluster of Differentiation 121b) is an ... [...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 position. The e ... [...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 ''IRS-1'' gene. It is a 131 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 and insulin-like growth factor-1 (IGF-1) receptors 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 domain, such as PI3K, Grb- ... [...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. GAB1 is involved also in the tonic pAKT activity in malignant B cells, and induces PI3K activation irrespectively of BCR stimulation by antigen. Interactions GAB1 has been shown to Protein-protein interaction, interact with: * CRKL, * Grb2, * MAP3K3, * PIK3R1, * PLCG1 and * PTPN11. 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 Fragm ... 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 contain 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. 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 allostery). This binding can happen only when ezrin is in its active state. The activation of ezrin occurs in synergism of the two factors: 1) binding of the N-terminal domain to phosphatidylinositol(4,5)bis-phosphate (PIP2) and 2) phosphorylation of threonine T5 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erythropoietin Receptor
The erythropoietin receptor (EpoR) is a protein that in humans is encoded by the ''EPOR'' gene. EpoR is a 52kDa peptide with a single carbohydrate chain resulting in an approximately 56-57 kDa protein found on the surface of EPO responding cells. It is a member of the cytokine receptor family. EpoR pre-exists as dimers. These dimers were originally thought to be formed by extracellular domain interactions, however, it is now assumed that it is formed by interactions of the transmembrane domain and that the original structure of the extracellular interaction site was due to crystallisation conditions and does not depict the native conformation. Binding of a 30 kDa ligand erythropoietin (Epo), changes the receptor's conformational change, resulting in the autophosphorylation of Jak2 kinases that are pre-associated with the receptor (i.e., EpoR does not possess intrinsic kinase activity and depends on Jak2 activity). At present, the most well-established function of EpoR is to promote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |