41242 Results for: "Iodic+acid&pageNo=67"

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The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.

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WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008].

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Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010].

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Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. The gene encoding human ELL, which maps to chromosome 19p13.1, is one of several genes that undergo translocation with the MLL gene on chromosome 11q23 in acute myeloid leukemia. MLL (myeloid/lymphoid leukemia, also designated ALL-1 and HRX) regulates embryonal and hematopoietic development.

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C9orf46 is a 147 amino acid transmembrane protein. The gene encoding C9orf46 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

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The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009].

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Humanin, an endogenous anti-apoptotic peptide against Alzheimer disease-related insults, consists of 24 amino acids. The secreted protein is a neuroprotective factor against death induced by several different types of Alzheimer's disease genes. Humanin protects neuronal cells from damage caused by Alzheimer's disease genes, specifically APP (amyloid precursor protein). Humanin acts as a ligand for formyl peptide receptor-like 1 (FPRL1) with APP and utilizes its neuroprotective effects by inhibiting FPRL1 access to APP. The peptide prevents Bax translocation from cytosol to mitochondria. Humanin expression levels may be dependent on defects in energy production in muscles with mitochondrial abnormalities. The peptide has been detected in muscles of patients with the mitochondrial disease chronic progressive external ophthalmoplegia (CPEO). Humanin is mainly expressed in the kidney, heart, liver, testis and skeletal muscles.

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TSPEAR, also known as C21orf9, is a 669 amino acid secreted protein. Expressed as two isoforms produced by alternative splicing, TSPEAR contains one Thrombospondin N-terminal domain and seven EAR (epilepsy-associated repeat) domains. EAR domains are found in several proteins, including TSPEAR, encoded by genes that map within chromosome regions associated with seizure disorders. It is thought that the EAR domain plays a role in the pathogenesis of epilepsy by either binding to an unknown epileptic ligand or interfering with axon synaptogenesis.

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SERPINI2 is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. It may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. Two alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene.

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Lass5, or LAG1 longevity assurance homolog 5, is thought to be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donnor ceramide) in a fumonisin B1-independent manner.

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Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.

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5-aminolevulinate synthase 1 (ALAS-H) and 2 (ALAS-E) are two isoforms of ALAS, an enzyme catalyzing the first step of the heme biosynthetic pathway in mammals. The erythroid-specific isoenzyme, ALAS-E, regulates the first step of hematopoietic cell differentation and iron metabolism in the liver. ALAS-H is a housekeeping protein which mediates synthesis of early heme in the mitochondria of most cells. Succinyl CoA associates with ALAS-E in protein conformation change and translocation of ALAS-E into the mitochondria and does not interact with ALAS-H. The ALAS-E 5'-flanking region contains binding sites for nuclear activators such as GATA-1, NF-E2 and EKLF. Since the ALAS gene maps to the X chromosome, mutation of the gene leads to the pyridoxine-refractory X-linked sideroblastic anemia.

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This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

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ATF1 (Activating Transcription Factor 1, TREB-36) is a member of the ATF/CREB family of basic region leucine-zipper (bZip) DNA-binding proteins that regulates transcription by binding to a consensus cAMP response element (CRE) in the promoter of various viral and cellular genes. Many of these genes are important in cell growth and differentiation, and in stress and immune responses. The activation function of CRE-binding proteins may be modulated by phosphorylation of several kinases and is mediated by coactivators such as CREB-binding protein (CBP) and p300. ATF1 is a nuclear protein that binds DNA as a homodimer or as heterodimers with the inducible transcription factors CREB1 or CREM. Heterodimers appear to be stronger transcriptional activators than the homodimers. Tissue expression of ATF1 mRNA is widespread. Several isoforms of ATF1 arise by differential splicing. ATF1 mediates both Ca2+ and cAMP responses at several levels. It binds to the Tax-responsive element (TRE1) of the human T-cell lymphotropic virus type-I (HTLV1). ATF1 is detectable in metastatic melanoma cells and seems to contribute to their survival. A chimeric protein composed of the N-terminal domain of EWS (Ewing sarcoma oncogene) linked to the bZip domain of ATF1 is implicated in the rare malignant clear cell sarcoma of tendon sheath and aponeuroses (malignant melanoma of soft parts).

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ARID3B represents a member of a unique family of DNA-binding proteins that have roles in cell lineage gene regulation, cell cycle control, embryonic patterning and transcriptional regulation. ARID3B localizes to the nucleus and contains an AT-rich interactive domain (ARID) which has DNA-binding capabilities. Functioning as a transcription factor, ARID3B associates in a heterodimer with the related protein ARID3A and is believed to play an important role in neural crest survival during embryogenesis. In addition, ARID3B may participate in malignant transformation and neuroblastoma growth, suggesting a possible use of ARID3B as a tumor marker for neuroblastoma.

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PPM2C is a protein similar to members of the protein phosphatase 2C (PP2C) family. It is a catalytic subunit of the mitochondrial matrix phosphatase and is involved in reactivation of the pyruvate dehydrogenase complex.

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Sox genes comprise a family of genes that are related to the mammalian sex determining gene SRY. These genes similarly contain sequences that encode for the HMG-box domain, which is responsible for the sequence-specific DNA-binding activity. Sox genes encode putative transcriptional regulators implicated in the decision of cell fates during development and the control of diverse developmental processes. The highly complex group of Sox genes cluster at least 40 different loci that rapidly diverged in various animal lineages. At present, 30 Sox genes have been identified. Members of this family have been shown to be conserved during evolution and to play key roles during animal development. Some are involved in human diseases, including sex reversal.

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This gene encodes neutrophil cytosolic factor 2, the67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq].

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This protein functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) (by similariy). There are 2 isoforms produced by alternative splicing.

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Sm and Sm-like (LSm) proteins form donut-shaped, ubiquitously expressed heptameric complexes that are involved in various steps of RNA metabolism, including RNA-protein interactions and structural changes that are required during ribosomal subunit assembly. LSm14B, also known as C20orf40, FAM61B or LSM13, is a 385 amino acid protein that exists as multiple alternatively spliced isoforms and may play a role in RNA-related events. The gene encoding LSm14B maps to human chromosome 20. Comprising approximately 2% of the human genome, chromosome 20 contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome.

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Has E3 ubiquitin protein ligase activity. Regulates the levels of CASP8 and CASP10 by targeting them for proteasomal degradation. Has anti-apoptotic activity. May bind phosphatidylinositol phosphates.

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Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7).

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Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it mediates the interaction with microtubules.

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Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression.

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Crystallins are the major proteins of the vertebrate eye lens, where they maintain the transparency and refractive index of the lens. Crystallins are divided into a, b, and g families, and the b- and g-crystallins also comprise a superfamily. Crystallins usually contain seven distinctive protein regions, including four homologous motifs, a connecting peptide, and N- and C-terminal extensions. b-crystallins constitute the major lens structural proteins. They associate into dimers, tetramers, and higher order aggregates. The b-crystallin subfamily is composed of several gene products, including bA1-, bA2-, bA3-, bA4-, bB1-, bB2- and bB3-crystallin. The bA1- and bA3-crystallin proteins are encoded by a single mRNA. They differ by only 17 amino acids, and bA1-crystallin is generated by use of an alternate translation initiation site. The genes for bA4-, bB1-, bB2- and bB3-crystallin are clustered on human chromosome 22q11, while the genes for bA3/A1- and bA2-crystallin map to human chromosomes 17q11 and 2q34, respectively.

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Complexin 1 and Complexin 2, also designated Synaphin 1 and Synaphin 2, contain an a-helical middle domain of approximately 58 amino acids. Complexin 1 and Complexin 2 are expressed in presynaptic terminals of inhibitory and excitatory hippocampal neurons, respectively, and in cytoplasmic pools during early stages of development. Complexins promote SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) precomplex formation by binding to synaxin with its a-helical domain. Complexins are important regulators of transmitter release at a late step in calcium dependent neurotransmitter release or immediately after the calcium-triggering step of fast synchronous transmitter release and preceding vesicle fusion. Neurons lacking complexins show reduced transmitter release efficiency due to decreased calcium sensitivity of the synaptic secretion process. Complexin 2 may play a role in LTP (long term potentiation) following tetanic stimulation. A progressive loss of Complexin 2 occurs in the brains of mice carrying the Huntington disease mutation, an autosomal dominant neurodegenerative disorder. Changes in the neurotransmitter release might contribute to the motor, emotional and cognitive dysfunctions seen in these mice.

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May have a function in cell adhesion and/or receptor signaling.

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The PDE4A8 is a testis germ cell-specific PDE4A variant. There are two PDE4A variants identified in rat testis (PDE4A8 and an un-characterized 76 kDa PDE4A protein). Spermatogenesis is accompanied by expression of a varied repertoire of PDE4 enzymes at different stages of cell differentiation that presumably perform specialized functions. Confocal microscopic examination revealed the presence of PDE4A8 in primary and secondary spermatids but not in mature spermatozoa. PDE4A8 inhibition results in increased apoptosis of the germ cells accompanied with reduction in the number of mature spermatozoa.

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Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN (By similarity). Dephosphorylates LYN, and thereby modulates LYN activity (By similarity).

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Members of the paired homeobox family play a role in regulating cell development and pattern formation during embryonic stages. UNCX (UNC homeobox), also known as UNCX4.1, is a 531 amino acid nuclear transcription factor involved in neurogenesis and somitogenesis. Containing one homeobox DNA-binding domain, UNCX belongs to the paired homeobox family and UNC4 subfamily. UNCX assists in the formation of connections between hypothalamic neurons and the pituitary, which is necessary for central neurons to deliver hormones into peripheral blood. UNCX also plays a role in maintaining differentiation of the axial skeleton and acts upstream of Pax-9. The gene encoding UNCX maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.