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KIAA1279
KIF1-binding protein, also known as Kinesin binding protein(KBP), is a protein that in humans is encoded by the ''KIAA1279'' gene. The interaction of KBP with Kif15 is necessary for the localization of Kif15 to the microtubule plus-end at the spindle equator. Interaction between Kif15 and KBP is essential for the perfect alignment of chromosomes at the metaphase plate, and any defect in their interaction leads to delay in chromosomal alignment during mitosis. Anything that perturb the interaction of KBP and Kif15 can block the cells at mitosis, and hence it can be therapeutically used to control Kif15 upregulated cancer cells. Clinical significance Defects may be associated with Goldberg–Shprintzen syndrome (OMIM 609460). Interactions KIAA1279 has been shown to interact with Retinal G protein coupled receptor and Dipeptidase 1 Dipeptidase 1 (DPEP1), or renal dipeptidase, is a membrane-bound glycoprotein responsible for Hydrolysis, hydrolyzing dipeptides. It is found ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Goldberg–Shprintzen Syndrome
Goldberg–Shprintzen is a very rare connective tissue condition associated with mutations in '' KIAA1279'' gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubule Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nm and have an inner diameter between 11 an ...s and actin filaments. KBP may play a key role in cytoskeleton formation and neurite growth. Hirschsprung's disease may be part of the presentation. Developmental abnormalities shown by people with Goldberg–Shprintzen syndrome may be ocular, cardiac, urogenital, and skeletal . It was first observed by Sugarman and Vogel in 1981 and later established as a separate clinical identity by R B Goldberg and R J Shprintzen in 1982. The sibling pair had microcephaly, hypertelorism, short stature, submucous cleft palate, learning problems, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinal G Protein Coupled Receptor
RPE-retinal G protein-coupled receptor also known as RGR-opsin is a protein that in humans is encoded by the ''RGR'' gene. RGR-opsin is a member of the rhodopsin-like receptor subfamily of GPCR. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. RGR-opsin comes in different isoforms produced by alternative splicing. Function RGR-opsin preferentially binds all-trans-retinal, which is the dominant form in the dark adapted retina, upon light exposure it is isomerized to 11-cis-retinal. Therefore, RGR-opsin presumably acts as a photoisomerase to convert all-trans-retinal to 11-cis-retinal, similar to retinochrome in invertebrates. 11-cis-retinal is isomerized back within rhodopsin and the iodopsins in the rods and cones of the retina. RGR-opsin is exclusively expressed in tissue close to the rods and cones, the retinal pigment epithelium (RPE) and Müller cells. Phylogeny The RGR-opsins are restricted to the ... [...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 resid ... [...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 g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein–protein Interaction
Protein–protein interactions (PPIs) are physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by interactions that include electrostatic forces, hydrogen bonding and the hydrophobic effect. Many are physical contacts with molecular associations between chains that occur in a cell or in a living organism in a specific biomolecular context. Proteins rarely act alone as their functions tend to be regulated. Many molecular processes within a cell are carried out by molecular machines that are built from numerous protein components organized by their PPIs. These physiological interactions make up the so-called interactomics of the organism, while aberrant PPIs are the basis of multiple aggregation-related diseases, such as Creutzfeldt–Jakob and Alzheimer's diseases. PPIs have been studied with many methods and from different perspectives: biochemistry, quantum chemistry, molecular dynamics, signal tr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
