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Presenilin-1
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the ''PSEN1'' gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease. Structure Presenilin possesses a 9 transmembrane domain topology, with an extracellular C-terminus and a cytosolic N-terminus. Presenilin undergoes endo-proteolytic processing to produce ~27-28 kDa N-terminal and ~16-17 kDa C-terminal fragments in humans. Furthermore, presenilin exists in the cell mainly as a heterodimer of the C-terminal and N-terminus fragments. When presenilin 1 is overexpressed, the full length protein accumulates in an inactive form. Based on evidence that a gamma-secretase inhibitor binds to the fragments, the cleaved presenilin complex is considered to be the active form. Function ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Presenilin
Presenilins are a family of related multi-pass transmembrane proteins which constitute the catalytic subunits of the gamma-secretase intramembrane protease protein complex. They were first identified in screens for mutations causing early onset forms of familial Alzheimer's disease by Peter St George-Hyslop. Vertebrates have two presenilin genes, called ''PSEN1'' (located on chromosome 14 in humans) that codes for presenilin 1 (PS-1) and ''PSEN2'' (on chromosome 1 in humans) that codes for presenilin 2 (PS-2). Both genes show conservation between species, with little difference between rat and human presenilins. The nematode worm '' C. elegans'' has two genes that resemble the presenilins and appear to be functionally similar, sel-12 and hop-1. Presenilins undergo cleavage in an alpha helical region of one of the cytoplasmic loops to produce a large N-terminal and a smaller C-terminal fragment that together form part of the functional protein. Cleavage of presenilin 1 can ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-catenin
Catenin beta-1, also known as β-catenin (''beta''-catenin), is a protein that in humans is encoded by the ''CTNNB1'' gene. β-Catenin is a dual function protein, involved in regulation and coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the ''CTNNB1'' gene. In ''Drosophila'', the homologous protein is called ''armadillo''. β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway. It is a member of the catenin protein family and homologous to Plakoglobin, γ-catenin, also known as plakoglobin. β-Catenin is widely expressed in many tissues. In cardiac muscle, β-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocytes. Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma, colorectal cance ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ICAM5
Intercellular adhesion molecule 5 is a protein that in humans is encoded by the ''ICAM5'' gene. The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. Studies mentioned a role for ICAM5 in cell adhesion and cell signalling and dysregulation and disfunction of it will increase the risk of breast cancer. Study of the association between polymorphisms and breast cancer has been shown that ICAM5 rs1056538 and ICAM5 rs281439 variants might cont ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Delta Catenin
Delta commonly refers to: * Delta (letter) (Δ or δ), the fourth letter of the Greek alphabet * D (NATO phonetic alphabet: "Delta"), the fourth letter in the Latin alphabet * River delta, at a river mouth * Delta Air Lines, a major US carrier Delta may also refer to: Places Canada * Delta, British Columbia ** Delta (federal electoral district), a federal electoral district ** Delta (provincial electoral district) * Delta, Ontario United States * Mississippi Delta * Arkansas Delta * Delta, Alabama * Delta Junction, Alaska * Delta, Colorado * Delta, Illinois * Delta, Iowa * Delta, Kentucky * Delta, Louisiana * Delta, Missouri * Delta, North Carolina * Delta, Ohio * Delta, Pennsylvania * Sacramento–San Joaquin River Delta, California * Delta, Utah * Delta, Wisconsin, a town and an unincorporated community * Delta County (other) Elsewhere * Delta Island, Antarctica * Delta Stream, Antarctica * Delta, Minas Gerais, Brazil * Nile Delta, Egypt * Delta, Thessalon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glial Fibrillary Acidic Protein
Glial fibrillary acidic protein (GFAP) is a protein that is encoded by the ''GFAP'' gene in humans. It is a type III intermediate filament (IF) protein that is expressed by numerous cell types of the central nervous system (CNS), including astrocytes and ependymal cells during development. GFAP has also been found to be expressed in glomeruli and peritubular fibroblasts taken from rat kidneys, Leydig cells of the testis in both hamsters and humans, human keratinocytes, human osteocytes and chondrocytes and stellate cells of the pancreas and liver in rats. GFAP is closely related to the other three non- epithelial type III IF family members, vimentin, desmin and peripherin, which are all involved in the structure and function of the cell's cytoskeleton. GFAP is thought to help to maintain astrocyte mechanical strength as well as the shape of cells, but its exact function remains poorly understood, despite the number of studies using it as a cell marker. The protein wa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FLNB
Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a cytoplasmic protein which in humans is encoded by the ''FLNB'' gene. FLNB regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development. Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I. Interactions FLNB has been shown to interact with GP1BA, Filamin, FBLIM1, PSEN1, CD29 and PSEN2. See also * Larsen syndrome Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients.Mitra, N., Kannan, N., Kumar, V.S., Kavita, G. "Larsen Syndrom ... References External links GeneReview/NIH/UW entry on FLNB-Related Disor ... [...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] |
Beta-catenin
Catenin beta-1, also known as β-catenin (''beta''-catenin), is a protein that in humans is encoded by the ''CTNNB1'' gene. β-Catenin is a dual function protein, involved in regulation and coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the ''CTNNB1'' gene. In ''Drosophila'', the homologous protein is called ''armadillo''. β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway. It is a member of the catenin protein family and homologous to Plakoglobin, γ-catenin, also known as plakoglobin. β-Catenin is widely expressed in many tissues. In cardiac muscle, β-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocytes. Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma, colorectal cance ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bcl-2
Bcl-2, encoded in humans by the ''BCL2'' gene, is the founding member of the Bcl-2 family of regulator proteins. BCL2 blocks programmed cell death (apoptosis) while other BCL2 family members can either inhibit or induce it. It was the first apoptosis regulator identified in any organism. Bcl-2 derives its name from ''B-cell lymphoma 2'', as it is the second member of a range of proteins initially described in chromosomal translocations involving chromosomes 14 and 18 in follicular lymphomas. Orthologs (such as ''Bcl2'' in mice) have been identified in numerous mammals for which complete genome data are available. Like BCL3, BCL5, BCL6, BCL7A, BCL9, and BCL10, it has clinical significance in lymphoma. Isoforms The two isoforms of Bcl-2, Isoform 1, and Isoform 2, exhibit a similar fold. However, results in the ability of these isoforms to bind to the BAD and BAK proteins, as well as in the structural topology and electrostatic potential of the binding groove, sugge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABCC1
Multidrug resistance-associated protein 1 (MRP1) is a protein that in humans is encoded by the ''ABCC1'' gene. Function The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutathione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternative splicing by exon deletion results in several splice variants but maintains the original open reading frame in all forms. Structure ABCC1 is a 190 kDa protein that contains two membrane-spanning domains ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanoma
Melanoma is the most dangerous type of skin cancer; it develops from the melanin-producing cells known as melanocytes. It typically occurs in the skin, but may rarely occur in the mouth, intestines, or eye (uveal melanoma). In very rare cases melanoma can also happen in the lung which is known as primary pulmonary melanoma and only happens in 0.01% of primary lung tumors. In women, melanomas most commonly occur on the legs; while in men, on the back. Melanoma is frequently referred to as malignant melanoma. However, the medical community stresses that there is no such thing as a 'benign melanoma' and recommends that the term 'malignant melanoma' should be avoided as redundant. About 25% of melanomas develop from nevus, moles. Changes in a mole that can indicate melanoma include increaseespecially rapid increasein size, irregular edges, change in color, itchiness, or nevus#Classification, skin breakdown. The primary cause of melanoma is ultraviolet light (UV) exposure in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
