Search results

GDP Dissociation Inhibitor 1 (GDI1) is expressed mainly in neural and sensory tissues. GDI1 regulates the GDP/GTP exchange reaction of nearly all Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. GDI1 is also promoting the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Mutations in GDI1 have been associated with X-linked nonspecific mental retardation.

Mitogen-activated protein kinase 1 (MAPK1) is also known as "extracellular signal-regulated kinase 2" (ERK2). Two similar (85% sequence identity) protein kinases were originally called ERK1 and ERK2. They were found during a search for protein kinases that are rapidly phosphorylated after activation of cell surface tyrosine kinasessuch as the epidermal growth factor receptor. Phosphorylation of ERKs leads to the activation of their kinase activity. The molecular events linking cell surface receptors to activation of ERKs are complex. It was found that RasGTP-binding proteins are involved in the activation of ERKs. Another protein kinase, Raf-1, was shown to phosphorylate a "MAPK kinase", thus qualifying as a "MAPK kinase kinase". The MAPK kinase was named "MAPK/ERK kinase" (MEK). Receptor-linked tyrosine kinases, Ras, Raf, MEK and MAPK could be fitted into a signaling cascade linking an extracellular signal to MAPK activation. Transgenic gene knockoutmice lacking MAPK1 have major defects in early development.

Programmed cell death 1 ligand 2 (PDCD1LG2) which takes part in the costimulatory signal, is necessary for T-cell proliferation. PDCD1LG2 is also involved in IFNG production in a PDCD1-independent way. The interaction with PDCD1 inhibits T-cell proliferation by preventing cytokine production and cell cycle progression.

DNAL4 is a member of the dynein light chain family. DNAL4 is a component of the dynein motor complex in cells that converts the chemical energy contained in ATP into the mechanical energy of movement. Dynein transports various cellular cargos by moving the length of cytoskeletal microtubules towards the minus-end of the microtubule, which is typically oriented towards the cell center.

SDF-1 (stromal cell-derived factor-1) is small cytokine belonging to the chemokine family that is officially designated Chemokine (C-X-C motif) ligand 12 (CXCL12). It is produced in two forms, SDF-1?/CXCL12a and SDF-1?/CXCL12b, by alternate splicing of the same gene. Chemokines are characterized by the presence of four conserved cysteines, which form two disulfide bonds. The CXCL12 proteins belong to the group of CXC chemokines, whose initial pair of cysteines are separated by one intervening amino acid. CXCL12 is strongly chemotactic for lymphocytes and has been implicated as an important cell co-ordinator during development. During embryogenesis it directs the migration of hematopoietic cells from foetal liver to bone marrow. Mice which were knocked-out for CXCL12 gene were lethal before the birth or within just 1 hour of life. As another role, CXCL12a alters also the electrophysiology of neurons. CXCL12 was shown to be expressend in many tissues in mice (including brain, thymus, heart, lung, liver, kidney, spleen and bone marrow).
The receptor for this chemokine is CXCR4, which was previously called fusin. This CXCL12-CXCR4 interaction used to be considered exclusive (unlike for other chemokines and their receptors), but recently it was suggested that CXCL12 is also bound by CXCR7 receptor.
The gene for CXCL12 is located on human chromosome 10. In human and mouse both CXCL12 and CXCR4 show high identity of sequence: 99% and 90%, respectively.

Decorin (DCN) is a small cellular or pericellular matrix proteoglycan which is closely related in structure to biglycan protein. Decorin is a secreted protein which binds to collagen and fibronectin in extracellular matrix. Decorin appears in different glycoforms, substituted with chondroitin sulfate or dermatan sulfate consistent with the original tissue. DCN contains one attached glycosaminoglycan chain. Decorin influences the rate of fibril formation. Decorin is capable of suppressing the growth of various tumor cell lines. DCN gene defects cause corneal dystrophy. The DCN gene is a candidate gene for Marfan syndrome.

Retinol Binding Protein-2 (RBP2) which is present in the small intestinal epithelium takes part in the uptake and intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin essential for growth, reproduction, differentiation of epithelial tissues, and vision. RBP2 moderates the supply of retinoic acid to the nuclei of endometrial cells throughout the menstrual cycle.

YEATS Domain Containing 4 (YEATS4) has a high sequence homology to the human MLLT1, and yeast and human MLLT3 proteins. MLLT1 and MLLT3 proteins, both belong to a group of transcription factors, which indicates that YEATS might also represent a transcription factor. YEATS is believed to be necessary for RNA transcription. The YEATS gene has been shown to be amplified in tumors.

Profilin1 (PFN1) is a ubiquitous actin monomer-binding protein which is a member of the profilin family. PFN1 significantly boosts skin wound healing in-vitro and in-vivo which may be mediated by purinergic receptors. PFN1 is also active in endothelial cell migration and vessel sprouting. PFN1 is thought to control actin polymerization in response to extracellular signals. PFN1 binds to actin and affects the formation of the cytoskeleton. In addition, PFN1 has an important role in the regulation of epithelial cell-cell adhesion. At high concentrations, profilin averts the polymerization of actin, while at low concentrations it enhances the polymerization. PFN1 gene deletion is linked to Miller-Dieker syndrome.

BRISC And BRCA1 A Complex Member 1, also known as BABAM1, is a part of the BRCA1-A complex. The BRCA1-A complex identifies 'Lys-63'- linked ubiquitinated histones H2A and H2AX at DNA lesions sites and also holds deubiquitinase activity which removes in particular 'Lys-63'-linked ubiquitin on histones H2A and H2AX. BABAM1 is necessary to preserve the stability of BRE/BRCC45 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component.

RDBP is a putative RNA binding protein. RDBP protein is one of the five components of the multisubunit NELF complex which collaborates with DSIF to repress RNA polymerase II elongation. Control of transcription elongation needs a complex interaction between positive transcription elongation factor b and negative transcription elongation factors, DSIF and NELF. DSIF and NELF, act as negative transcription elongation factors by increasing the time the polymerase spends at pause sites. RDBP has a functional RNA-binding domain, whose mutations impair transcription repression without affecting known protein-protein interactions.

PLCXD3, also referred to asphosphatidylinositol Specific Phospholipase C X Domain Containing 3, contains 1 PI-PLC X-box domain. Creutzfeldt-Jakob Disease, is one of the diseases linked with PLCXD3. It is related to Ectoderm Differentiation, obsolete signal transducer activity and phosphoric diester hydrolase activity.

RAB14 belongs to the RAB protein family, low molecular mass monomeric GTPases which is found on the cytoplasmic surfaces of distinct membrane bound organelles. RAB14 has a role in vesicular trafficking and neurotransmitter release throughout the body and is expressed at high levels in brain, lung, kidney, spleen and thymus. In addition, RAB14 takes part in the biosynthetic/recycling pathway between the Golgi and endosomal compartments.

Cholera Toxin B subunit (ctxB) Cholera is a protein complex secreted by the bacterium Vibrio cholerae. ctxB is responsible for the massive, watery diarrhea characteristic of cholera infection. The cholera toxin is an oligomeric complex made up of 6 protein subunits: a single copy of the A subunit and5 copies of the B subunit, denoted as AB5. Subunit B binds while subunit A activates the G protein which activates adenylate cyclase. The five B subunits form a five-membered ring. The A subunit has 2 important segments. The A1 portion of the chain (CTA1) is a globular enzyme payload that ADP-ribosylates G proteins, while the A2 chain (CTA2) forms an extended alpha helix which sits snugly in the central pore of the B subunit ring.

GFP or Green Fluorescent Protein, is a protein derivedfroma jellyfish (Aequorea Victoria) that produces bioluminescence in the green area of the seen spectrum. GFP is a helpful and very commontool for manufacturing chimeric proteins, where it acts as a fluorescent protein tag. Green Fluorescent Protein is expressed in most known cell types and is used as a noninvasive fluorescent indicator in living cells and tissues.

Thymic Stromal Lymphopoietin Receptor (TSLPR) is a member of the type I cytokine receptor family. TSLPR alongside the interleukin 7 receptor (IL7R) activate STAT3, STAT5, and JAK2 pathways, which is regulated processes such as cell proliferation and development of the hematopoietic system. Two transcript variants encoding dissimilar isoforms have been found for this gene. TSLPR is expressed in heart, skeletal muscle, kidney and adult and fetal liver.

MAPRE1 (EB1) is a member of the intermediate/early gene family. MAPRE1 was first identified by its binding to the APC protein, which is often mutated in familial and sporadic, forms of colorectal cancer. MAPRE1 localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, MAPRE1 is associated with the centrosomes and spindle microtubules. MAPRE1 is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes.

Sjogren syndrome/scleroderma autoantigen 1, SSSCA1 is involved in mitosis. SSSCA1 is a centromere-associated protein which can induce anti-centromere antibodies. In addition SSSCA1 is recognized by a subset of anti-centromere antibodies from patients with sclerodermaand Sjogren's syndrome.

CRK belongs to the signaling adapter protein family which binds to several tyrosine-phosphorylated proteins. CRK is involved in many cellular processes such as apoptosis, proliferation, and differentiation. CRK has a modular domain architecture consisting of an SH2 followed by two SH3 domains (src-homology domains). The N-terminal SH2 domain of the CRK protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation.

TAX1BP3 holds one PDZ domain, which uses for interactions with other proteins like the interaction with the C-terminus of Rhotekin that facilitates Rho-mediated activation of the FOS serum response element. In addition, PDZ domain interacts with beta-catenin to inhibit the transcriptional activity of beta-catenin. TAX1BP3 exists in several cell lines, such as HeLa, and is expressed in small quantities in peripheral blood leukocytes.

Cytoplasmic Polyadenylation Element Binding Protein 1 (CPEB1) belongs to the cytoplasmic polyadenylation element (CPE) binding protein family, whose members regulate translation of cyclin B1 during embryonic cell divisions. The CPEB1 is a highly conserved protein which binds to a specific RNA sequence called the CPE found in the 3' UTR of some mRNAs. Analogous proteins in Xenopus and mouse function to stimulate cytoplasmic polyadenylation of dormant mRNAs with short polyA tails, resulting in their translation.

Plasma protease C1 inhibitor (SERPING1) is a part of the serpin superfamily of serine protease inhibitors. SERPING1 takes part in regulating activation of both the complement and contact systems. That isdue to the fact that SERPING1 regulates the activation of complement factor C1 in addition to the activity of activated C1 by coupling with the active catalytic site at the light chains of C1r and C1s. Lack of SERPING1 results in hereditary angioedema, which is characterized by recurrent episodes of localized angioedema of the skin, gastrointestinal mucosa or upper respiratory mucosa.

Recombinant Hirudin is a potent thrombin inhibitor originally derived from the medicinal leech. Hirudin acts directly on thrombin rather than through other clotting factors. The mechanism of Hirudin-thrombin appears to be unique. The conversion of fibrinogen into fibrin by the serine protease enzyme thrombin is a major event in the final stages of blood coagulation. In the final stages of coagulation prothrombinase converts prothrombin into thrombin. Fibrin is subsequently cross linked by factor XIII to form a blood clot. The primary inhibitor of thrombin in normal blood circulation is antithrombin III. The anticoagulatant activity of hirudin is derived from its ability to inhibit the pro-coagulant activity of thrombin (similar to antithrombin III activity). Hirudin is the strongest natural inhibitor of thrombin. Hirudin binds to and inhibits only the activity of thrombin forms with a specific activity on fibrinogen contrasting to antithrombin III activity. Therefore, hirudin has a thrombolytic activity since it prevents or dissolves the formation of clots and thrombi. Hirudin also has therapeutic significance in blood coagulation disorders, in the treatment of skin hematomas and of superficial varicose veins. Hirudin does not hinder with the biological activity of other serum proteins and can also act on complexed thrombin, thus having an advantage over more common anticoagulants and thrombolytics. It is complicated to extract large quantities of hirudin from natural sources; therefore a method for producing and purifying hirudin using recombinant biotechnology has been developed.

Growth/differentiation factors (GDF1-GDF15) belong to the BMP family of TGF-beta superfamily proteins. These factors are produced as inactive preproproteins which are subsequently cleaved and assembled into active secreted homodimers. BMP13 is a growth factor which controls proliferation and cellular differentiation in the retina and bone formation. BMP13 has a central role in regulating apoptosis during retinal development. GDF proteins are vital during embryonic development, particularly in the skeletal, nervous, and muscular systems. BMP13 gene mutations result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation.