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GNAQ
Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the ''GNAQ'' gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit. Function Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230). upplied by OMIM Mutations in this gene have been found associated to cases of Sturge–Weber syndrome and port-wine stains. Interactio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gq Alpha Subunit
Gq protein alpha subunit is a family of heterotrimeric G protein alpha subunits. This family is also commonly called the Gq/11 (Gq/G11) family or Gq/11/14/15 family to include closely related family members. G alpha subunits may be referred to as Gq alpha, Gαq, or Gqα. Gq proteins couple to G protein-coupled receptors to activate beta-type phospholipase C (PLC-β) enzymes. PLC-β in turn hydrolyzes phosphatidylinositol 4,5-bisphosphate (PIP2) to diacyl glycerol (DAG) and inositol trisphosphate (IP3). IP3 acts as a second messenger to release stored calcium into the cytoplasm, while DAG acts as a second messenger that activates protein kinase C (PKC). Family members In humans, there are four distinct proteins in the Gq alpha subunit family: * Gαq is encoded by the gene GNAQ. * Gα11 is encoded by the gene GNA11. * Gα14 is encoded by the gene GNA14. * Gα15 is encoded by the gene GNA15. Function The general function of Gq is to activate intracellular signaling p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sturge–Weber Syndrome
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). Sturge–Weber syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Normally, only one side of the brain is affected. This type is the most common. Type 2 involvement includes a facial angioma (port wine stain) with a possibility of glaucoma developing. There is no evidence of brain involvement. Symptoms can show at any time beyond the initial diagnosis of the facial angioma. The symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. More research is needed on this type of Sturge–Weber syndrome. Type 3 h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GNA11
Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the ''GNA11'' gene. Together with GNAQ (its paralogue), it functions as a Gq alpha subunit. at . Retrieved January 1, 2015. See also *Gq alpha subunit
Gq protein alpha subunit is a family of heterotrimeric G protein alpha subunits. This family is also commonly called the Gq/11 (Gq/G11) family or Gq/11/14/15 family to include closely related family members. G alpha subunits may be referre ...
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Port-wine Stain
A port-wine stain (''nevus flammeus'') is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). They are so named for their coloration, which is similar in color to port wine, a fortified red wine from Portugal. A port-wine stain is a capillary malformation, seen at birth. Port-wine stains persist throughout life. The area of skin affected grows in proportion to general growth. Port-wine stains occur most often on the face but can appear anywhere on the body, particularly on the neck, upper trunk, arms and legs. Early stains are usually flat and pink in appearance. As the child matures, the color may deepen to a dark red or purplish color. In adulthood, thickening of the lesion or the development of small lumps may occur. Port-wine stains may be part of a syndrome such as Sturge–Weber syndrome or Klippel–Trénaunay–Weber syndrome. Types Nevus flammeus may be divided as follows:James, William; Berger, Timothy; Elston, D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta Adrenergic Receptor Kinase
G-protein-coupled receptor kinase 2 (GRK2) is an enzyme that in humans is encoded by the ''ADRBK1'' gene. GRK2 was initially called Beta-adrenergic receptor kinase (βARK or βARK1), and is a member of the G protein-coupled receptor kinase subfamily of the Ser/Thr protein kinases that is most highly similar to GRK3(βARK2). Functions G protein-coupled receptor kinases phosphorylate activated G protein-coupled receptors, which promotes the binding of an arrestin protein to the receptor. Arrestin binding to phosphorylated, active receptor prevents receptor stimulation of heterotrimeric G protein transducer proteins, blocking their cellular signaling and resulting in receptor desensitization. Arrestin binding also directs receptors to specific cellular internalization pathways, removing the receptors from the cell surface and also preventing additional activation. Arrestin binding to phosphorylated, active receptor also enables receptor signaling through arrestin partner protein ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bruton's Tyrosine Kinase
Bruton's tyrosine kinase (abbreviated Btk or BTK), also known as tyrosine-protein kinase BTK, is a tyrosine kinase that is encoded by the ''BTK'' gene in humans. BTK plays a crucial role in B cell development. Structure BTK contains five different protein interaction domains. These domains include an amino terminal pleckstrin homology (PH) domain, a proline-rich TEC homology (TH) domain, SRC homology (SH) domains SH2 and SH3, as well as a kinase domain with enzymatic activity. Function BTK plays a crucial role in B cell development as it is required for transmitting signals from the pre-B cell receptor that forms after successful immunoglobulin heavy chain rearrangement. It also has a role in mast cell activation through the high-affinity IgE receptor. Btk contains a PH domain that binds phosphatidylinositol (3,4,5)-trisphosphate (PIP3). PIP3 binding induces Btk to phosphorylate phospholipase C, which in turn hydrolyzes PIP2, a phosphatidylinositol, into two second mess ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RGS16
Regulator of G-protein signaling 16 is a protein that in humans is encoded by the ''RGS16'' gene. Function The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. Interactions RGS16 has been shown to interact with GNAQ Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the ''GNAQ'' gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit. Function Guanine nucleotide-binding proteins are a fam ... and GNAI3. References Further reading * * * * * * * * * * * * * * * * * * * * * * * * * {{PDB Gallery, geneid=6004 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RGS4
Regulator of G protein signaling 4 also known as RGP4 is a protein that in humans is encoded by the ''RGS4'' gene. RGP4 regulates G protein signaling. Function Regulator of G protein signalling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain which conveys GAP activity. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulates signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Clinical significance A number of studies associate the RGS4 gene with schizophrenia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RIC8A
Resistance to inhibitors of cholinesterase-8A (Ric-8A), also known as Synembryn-A, is a protein that in humans is encoded by the ''RIC8A'' gene. Interactions RIC8A has been shown to interact with GNAO1, GNA13, GNAQ, GNAS complex locus, GNAI2, GNAI1 and GNAI3 Guanine nucleotide-binding protein G(k) subunit alpha is a protein that in humans is encoded by the ''GNAI3'' gene. Interactions GNAI3 has been shown to interact with: * RGS10 * RGS12, * RGS14, * RGS16, * RGS18, * RGS19, * RGS5, * RIC8A, .... References Further reading * * * * * * * * * * * * * * {{gene-11-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sodium-hydrogen Antiporter 3 Regulator 1
Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. It is encoded by the gene ''SLC9A3R1''. It is also known as ERM Binding Protein 50 (EBP50) or Na+/H+ Exchanger Regulatory Factor (NHERF1). It is believed to interact via long-range allostery, involving significant protein dynamics. Mechanism Members of the ezrin (VIL2; MIM 123900)-radixin (RDX; MIM 179410)-moesin (MSN; MIM 309845) (ERM) protein family are highly concentrated in the apical aspect of polarized epithelial cells. These cells are studded with microvilli containing bundles of actin filaments, which must attach to the membrane to assemble and maintain the microvilli. The ERM proteins, together with merlin, the NF2 (MIM 607379) gene product, are thought to be linkers between integral membrane and cytoskeletal proteins, and they bind directly to actin in vitro. Actin cytoskeleton reorganization requires the activation of a sodium/hydrogen exchanger (SLC9A3; MIM 182307). SLC9A3R1 is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
