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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. It is present on the tips of the podocytes as an intricate mesh connecting adjacent foot processes. Nephrin contributes to the strong size selectivity of the slit diaphragm, however, the relative contribution of the slit diaphragm to exclusion of protein by the glomerulus is debated. The extracellular interactions, both homophilic and heterophilic—between nephrin and NEPH1—are not completely understood. In addition to eight immunoglobulin G–like motifs and a fibronectin type 3 repeat, nephrin has a single transmembrane domain and a short intracellular tail. Tyrosine phosphorylation at different sites on the intracellular tail contribute to the regul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Podocyte
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. The podocytes have long primary processes called ''trabeculae'' that form secondary processes known as ''pedicels'' or foot processes (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 sl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CD2AP
CD2-associated protein is a protein that in humans is encoded by the ''CD2AP'' gene. Function This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. Interactions CD2AP has been shown to interact with: * Cbl gene, * NPHS2, * Nephrin, and * RAB4A Ras-related protein Rab-4A is a protein that in humans is encoded by the ''RAB4A'' gene. Interactions RAB4A has been shown to interact with: * CD2AP, * KIF3B, * RAB11FIP1, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NPHS2
Podocin is a protein that in humans is encoded by the ''NPHS2'' gene. Interactions NPHS2 has been shown to Protein-protein interaction, interact with Nephrin and CD2AP. See also * Focal segmental glomerulosclerosis References Further reading * * * * * * * * * * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 Tight junction protein ZO-1 also known as Zonula Occludens-1 (ZO-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 .... References Further reading * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Podocin
Podocin is a protein component of the filtration slits of podocytes. Glomerulus (kidney), Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney Glomerulus (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 Stomatin, band-7-stomatin Protein family, 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 foot processes (pedicels) where it oligomerizes in lipid rafts ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine (proteinuria), low levels of protein in the blood, and swelling. This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space. Signs and symptoms Urine protein loss leads to total body swelling (generalized edema) and abdominal distension in the first several weeks to months of life. Fluid retention may lead to cough (from pulmonary edema), ascites, and widened cranial sutures and fontanelles. High urine protein loss can lead to foamy appearance of urine. Infants may be born prematurely with low birth weight, and have meconium stained amniotic fluid or a large placenta. Complications * Frequent, severe infections: urinary loss of immunoglobulins * Malnutrition and poor gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CTNND1
p120 catenin, or simply p120, also called catenin delta-1, is a protein that in humans is encoded by the ''CTNND1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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: protei .... Function This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Clinical significance Either loss or cytoplasmic localization of p120 is a common feature in the progression of several types of carcinoma. Interactions CTNND1 has been shown to interact with: * β-Catenin, * CDH1, * CDH2, * Collagen, type XVII, alpha 1, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDH3 (gene)
Cadherin-3, also known as P-Cadherin, is a protein that in humans is encoded by the ''CDH3'' gene. Function This gene is a classical cadherin Cadherins (named for "calcium-dependent adhesion") are cell adhesion molecules important in forming adherens junctions that let cells adhere to each other. Cadherins are a class of type-1 transmembrane proteins, and they depend on calcium (Ca2+) ... from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein composed of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Clinical significance Mutations in this gene have been associated with congenital hypotrichosis with juvenile ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
