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PTPRT
Receptor-type tyrosine-protein phosphatase T is an enzyme that in humans is encoded by the ''PTPRT'' gene. PTPRT is also known as PTPrho, PTPρ and human accelerated region 9. The human accelerated regions are 49 regions of the human genome that are conserved among vertebrates, but in humans show significant distinction from other vertebrates. This region may, therefore, have played a key role in differentiating humans from apes. Function The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. PTPrho has been proposed to function during development of the nervous system and as a tumor suppressor in cancer. Structure This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDH2
Cadherin-2 also known as Neural cadherin (N-cadherin), is a protein that in humans is encoded by the ''CDH2'' gene. CDH2 has also been designated as CD325 (cluster of differentiation 325). Cadherin-2 is a transmembrane protein expressed in multiple tissues and functions to mediate cell–cell adhesion. In cardiac muscle, Cadherin-2 is an integral component in adherens junctions residing at intercalated discs, which function to mechanically and electrically couple adjacent cardiomyocytes. Alterations in expression and integrity of Cadherin-2 has been observed in various forms of disease, including human dilated cardiomyopathy. Variants in ''CDH2'' have also been identified to cause a syndromic neurodevelopmental disorder. Structure Cadherin-2 is a protein with molecular weight of 99.7 kDa, and 906 amino acids in length. Cadherin-2, a classical cadherin from the cadherin superfamily, is composed of five extracellular cadherin repeats, a transmembrane region and a highly conserve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDH1 (gene)
Cadherin-1 or Epithelial cadherin (E-cadherin), (not to be confused with the APC/C activator protein CDH1) is a protein that in humans is encoded by the ''CDH1'' gene. Mutations are correlated with gastric, breast, colorectal, thyroid, and ovarian cancers. CDH1 has also been designated as CD324 ( cluster of differentiation 324). It is a tumor suppressor gene. History The discovery of cadherin cell-cell adhesion proteins is attributed to Masatoshi Takeichi, whose experience with adhering epithelial cells began in 1966. His work originally began by studying lens differentiation in chicken embryos at Nagoya University, where he explored how retinal cells regulate lens fiber differentiation. To do this, Takeichi initially collected media that had previously cultured neural retina cells (CM) and suspended lens epithelial cells in it. He observed that cells suspended in the CM media had delayed attachment compared to cells in his regular medium. His interest in cell adherence was ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakoglobin
Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the ''JUP'' gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic component of desmosomes and adherens junctions structures located within intercalated discs of cardiac muscle that function to anchor sarcomeres and join adjacent cells in cardiac muscle. Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. Structure Human plakoglobin is 81.7 kDa in molecular weight and 745 amino acids long. The ''JUP'' gene contains 13 exons spanning 17 kb on chromosome 17q21. Plakoglobin is a member of the catenin family, since it contains a distinct repeating amino acid motif called the armadillo repeat. Plakoglobin is highly similar to β-catenin; both have 12 armadillo repeats as well as N-terminal and C-terminal globular domains of unknown structure. Plakoglobin was originally identifie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-catenin
Catenin beta-1, also known as beta-catenin (β-catenin), is a protein that in humans is encoded by the ''CTNNB1'' gene. Beta-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 γ-catenin, also known as plakoglobin. Beta-catenin is widely expressed in many tissues. In cardiac muscle, beta-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 ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BCR (gene)
The breakpoint cluster region protein (BCR) also known as renal carcinoma antigen NY-REN-26 is a protein that in humans is encoded by the ''BCR'' gene. ''BCR'' is one of the two genes in the ''BCR-ABL'' fusion protein, which is associated with the Philadelphia chromosome. Two transcript variants encoding different isoforms have been found for this gene. Function Although the BCR- ABL fusion protein has been much studied, the function of the normal BCR gene product is still not clear. The protein has serine/threonine kinase activity and is a guanine nucleotide exchange factor for the Rho family of GTPases including RhoA. Clinical significance A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the ''BCR'' gene. The translocation produces a fusion protein that is encoded by sequence from both ''B ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Accelerated Regions
Human accelerated regions (HARs), first described in August 2006, are a set of 49 segments of the human genome that are conserved throughout vertebrate evolution but are strikingly different in humans. They are named according to their degree of difference between humans and chimpanzees (HAR1 showing the largest degree of human-chimpanzee differences). Found by scanning through genomic databases of multiple species, some of these highly mutated areas may contribute to human-specific traits. Others may represent loss of functional mutations, possibly due to the action of biased gene conversion rather than adaptive evolution. Several of the HARs encompass genes known to produce proteins important in neurodevelopment. HAR1 is a 106-base pair stretch found on the long arm of chromosome 20 overlapping with part of the RNA genes HAR1F and HAR1R. HAR1F is active in the developing human brain. The HAR1 sequence is found (and conserved) in chickens and chimpanzees but is not present in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTPRU
Receptor-type tyrosine-protein phosphatase PCP-2 (also known as PTP-pi, PTP lambda, hPTP-J, PTPRO and PTP psi), is an enzyme that in humans is encoded by the ''PTPRU'' gene. Function The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic tyrosine phosphatase domains, and thus represents a receptor-type PTP (RPTP). The extracellular region contains a meprin-A5 antigen-PTPmu (MAM) domain, one Ig-like domain and four fibronectin type III-like repeats, and thus is a member of the type R2B RPTP family. It was cloned by many groups and given different names, including PCP-2, PTP pi, PTP lambda, hPTP-J, PTPRO, and PTP psi. Other type R2B RPTPs include PTPRM, PTPRK, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurexins
Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain. The extracellular domain interacts with proteins in the synaptic cleft, most notably neuroligin, while the intracellular cytoplasmic portion interacts with proteins associated with exocytosis. Neurexin and neuroligin "shake hands," resulting in the connection between the two neurons and the production of a synapse. Neurexins mediate signaling across the synapse, and influence the properties of neural networks by synapse specificity. Neurexins were discovered as receptors for α-latrotoxin, a vertebrate-specific toxin in black widow spider venom that binds to presynaptic receptors and induces massive neurotransmitter release. In humans, alterations in genes encoding neurexins are implicated in autism and other cognitive diseases, such as Tourette syndrome and schiz ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmoglein
The desmogleins are a family of desmosomal cadherins consisting of proteins DSG1, DSG2, DSG3, and DSG4. They play a role in the formation of desmosomes that join cells to one another. Pathology Desmogleins are targeted in the autoimmune disease pemphigus. Desmoglein proteins are a type of cadherin, which is a transmembrane protein that binds with other cadherins to form junctions known as desmosomes between cells. These desmoglein proteins thus hold cells together, but, when the body starts producing antibodies against desmoglein, these junctions break down, and this results in subsequent blister A blister is a small pocket of body fluid ( lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled ... or vesicle formation.Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. 3rd ed. Philadelphia: Elsevier Saunders; 2012 Ref ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CTNND1
p120, and called catenin delta-1 is a protein that in humans is encoded by the CTNND1 gene. 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: * Beta-catenin, * CDH1, * CDH2, * Collagen, type XVII, alpha 1, * Cortactin, * FYN, * MUC1, * Nephrin, * PSEN1, * PTPN6, * PTPRJ, * PTPRM, * VE-cadherin, * YES1, and * ZBTB33 See also * Delta catenin * Catenin Catenins are a family of proteins found in complexes with cadherin cell adhesion molecules of animal cells. The f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha-catenin
Alpha-catenin functions as the primary protein link between cadherins and the actin cytoskeleton. It has been reported that the actin binding proteins vinculin and alpha-actinin can bind to alpha-catenin. It has been suggested that alpha-catenin does not bind with high affinity to both actin filaments and the E-cadherin-beta-catenin complex at the same time. It has been observed that when alpha-catenin is not in a molecular complex with beta-catenin, it dimerizes and functions to regulate actin filament assembly, possibly by competing with Arp2/3 protein. Alpha catenin exhibits significant protein dynamics. However, a protein complex including a cadherin, actin, beta-catenin and alpha-catenin has not been isolated. The amino acid sequence of alpha-catenin has sequence similarity to that of vinculin. Types Three alpha-catenin genes are expressed in humans: * CTNNA1, alpha-1-catenin (also called alpha-E-catenin) * CTNNA2, alpha-2-catenin (also called alpha-N-catenin) * CTNNA3, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
