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KIRREL
Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the ''KIRREL'' gene. Function NEPH1 is a member of the NEPH protein family, which includes NEPH2 (KIRREL3, MIMbr>607761 and NEPH3 (KIRREL2, MIMbr>607762. The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766). NEPH1 is expressed in filtration slits of kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration of blood (Sellin et al., 2003). upplied by OMIMref name="entrez" /> Interactions KIRREL has been shown to interact with Nephrin and Tight junction protein 1 Zonula occludens-1 ZO-1, also known as Tight junction protein-1 is a 220-kD peripheral membrane protein that is encoded by the ''TJP1'' gene in humans. It belongs to the family of ''zonula occludens proteins'' (ZO-1, ZO-2, and ZO-3), which are ti .... References Further reading * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KIRREL3
Kin of IRRE-like protein 3 (KIRREL3) also known as kin of irregular chiasm-like protein 3 or NEPH2 is a protein that in humans is encoded by the ''KIRREL3'' gene. NEPH2 is a member of the NEPH protein family of transmembrane proteins, which includes NEPH1 (KIRREL) and NEPH3 (KIRREL2). The NEPH proteins can interact with nephrin and CASK. Function NEPH2 has been implicated in synapse formation. Disruption of KIRREL3 gene function had been associated with abnormal brain function. NEPH1 and NEPH2 are involved in the blood filtration function of the kidney The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blo ... and are located in the slit diaphragm. References Further reading * * * * * * * * {{PDB Gallery, geneid=84623 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KIRREL2
Kin of IRRE-like protein 2, also known as NEPH3, is a protein that in humans is encoded by the ''KIRREL2'' gene. It is primarily expressed in β cells of the pancreatic islets. KIRREL2 is a member of the NEPH protein family, which includes NEPH1 (KIRREL) and NEPH2 (KIRREL3 Kin of IRRE-like protein 3 (KIRREL3) also known as kin of irregular chiasm-like protein 3 or NEPH2 is a protein that in humans is encoded by the ''KIRREL3'' gene. NEPH2 is a member of the NEPH protein family of transmembrane proteins, which includ ...). NEPH proteins bind the References Further reading * * * * * * * {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Filtration Slits
Podocytes are cells in Bowman's capsule in the kidneys that wrap around capillaries of the glomerulus. Podocytes make up the epithelial lining of Bowman's capsule, the third layer through which filtration of blood takes place. Bowman's capsule filters the blood, retaining large molecules such as proteins while smaller molecules such as water, salts, and sugars are filtered as the first step in the formation of urine. Although various viscera have epithelial layers, the name visceral epithelial cells usually refers specifically to podocytes, which are specialized epithelial cells that reside in the visceral layer of the capsule. One type of specialized epithelial cell is podocalyxin. The podocytes have long foot processes called ''pedicels'', for which the cells are named (''podo-'' + '' -cyte''). The pedicels wrap around the capillaries and leave slits between them. Blood is filtered through these slits, each known as a filtration slit, slit diaphragm, or slit pore. Several ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Podocytes
Podocytes are cells in Bowman's capsule in the kidneys that wrap around capillaries of the glomerulus. Podocytes make up the epithelial lining of Bowman's capsule, the third layer through which filtration of blood takes place. Bowman's capsule filters the blood, retaining large molecules such as proteins while smaller molecules such as water, salts, and sugars are filtered as the first step in the formation of urine. Although various viscera have epithelial layers, the name visceral epithelial cells usually refers specifically to podocytes, which are specialized epithelial cells that reside in the visceral layer of the capsule. One type of specialized epithelial cell is podocalyxin. The podocytes have long foot processes called ''pedicels'', for which the cells are named (''podo-'' + '' -cyte''). The pedicels wrap around the capillaries and leave slits between them. Blood is filtered through these slits, each known as a filtration slit, slit diaphragm, or slit pore. Several pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nephrin
Nephrin is a protein necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm. They are present on the tips of the podocytes as an intricate mesh and convey strong negative charges which repel protein from crossing into the Bowman's space. A defect in the gene for nephrin, NPHS1, is associated with congenital nephrotic syndrome of the Finnish type and causes massive amounts of protein to be leaked into the urine, or proteinuria. Nephrin is also required for cardiovascular development. Interactions Nephrin has been shown to interact with: * CASK, * CD2AP, * CDH3 and * CTNND1, * FYN, * KIRREL, and * NPHS2. See also * Podocyte Podocytes are cells in Bowman's capsule in the kidneys that wrap around capillaries of the glomerul ... [...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] |
Online Mendelian Inheritance In Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Podocin
Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus. Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood. Structure Podocin is a membrane protein of the band-7-stomatin family, consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP serving as an adaptor. Function Podocin is localized on the membranes of podocyte pedicels (foot-like long processes), where it oligomerizes in lipid rafts together with nephrin Nephrin is a protein necessary for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ultrafiltration (renal)
In renal physiology, ultrafiltration occurs at the barrier between the blood and the filtrate in the glomerular capsule (Bowman's capsule) in the kidneys. As in nonbiological examples of ultrafiltration, pressure (in this case blood pressure) and concentration gradients lead to a separation through a semipermeable membrane (provided by the podocytes). The Bowman's capsule contains a dense capillary network called the glomerulus. Blood flows into these capillaries through the afferent arterioles and leaves through the efferent arterioles. The high hydrostatic pressure forces small molecules in the tubular fluid such as water, glucose, amino acids, sodium chloride and urea through the filter, from the blood in the glomerular capsule across the basement membrane of the Bowman's capsule and into the renal tubules. This process is called ultrafiltration; the resulting fluid, virtually free of large proteins and blood cells, is referred to as glomerular filtrate, or ultrafiltrate. Fur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood
Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood in the circulatory system is also known as ''peripheral blood'', and the blood cells it carries, ''peripheral blood cells''. Blood is composed of blood cells suspended in blood plasma. Plasma, which constitutes 55% of blood fluid, is mostly water (92% by volume), and contains proteins, glucose, mineral ions, hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and blood cells themselves. Albumin is the main protein in plasma, and it functions to regulate the colloidal osmotic pressure of blood. The blood cells are mainly red blood cells (also called RBCs or erythrocytes), white blood cells (also called WBCs or leukocytes) and platelets (also called thrombocytes). The most abundant cells in vertebrate blo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
